#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_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MIB2	142678	broad.mit.edu	37	1	1562553	1562554	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:1562553_1562554GG>TT	ENST00000357210.4	+	11	1730_1731	c.1514_1515GG>TT	c.(1513-1515)cGG>cTT	p.R505L	MIB2_ENST00000504599.1_Missense_Mutation_p.R461L|MIB2_ENST00000505820.2_Missense_Mutation_p.R562L|MIB2_ENST00000355826.5_Missense_Mutation_p.R548L|MIB2_ENST00000378708.1_Missense_Mutation_p.R411L|MIB2_ENST00000378712.1_Missense_Mutation_p.R382L|MIB2_ENST00000378710.3_Missense_Mutation_p.R469L|MIB2_ENST00000360522.4_Missense_Mutation_p.R470L|MIB2_ENST00000520777.1_Missense_Mutation_p.R558L|MIB2_ENST00000518681.1_Missense_Mutation_p.R497L	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	505					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R505L(1)		central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AACGCAGCCCGGGCTCTGGACC	0.683																																							uc001agg.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1513-1515)CGG>CTT		mindbomb homolog 2																																				SO:0001583	missense	142678				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:1562553_1562554GG>TT	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	30577	protein-coding gene	gene with protein product		611141	"""zinc finger, ZZ type with ankyrin repeat domain 1"", ""mindbomb homolog 2 (Drosophila)"""	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	Exception_encountered	1.37:g.1562553_1562554delinsTT	ENSP00000349741:p.Arg505Leu					MIB2_uc001agh.2_Missense_Mutation_p.R491L|MIB2_uc001agi.2_Missense_Mutation_p.R501L|MIB2_uc001agj.2_Missense_Mutation_p.R346L|MIB2_uc001agk.2_Missense_Mutation_p.R440L|MIB2_uc001agl.1_Missense_Mutation_p.R461L|MIB2_uc001agm.2_Missense_Mutation_p.R382L|MIB2_uc010nyq.1_Missense_Mutation_p.R461L|MIB2_uc009vkh.2_Missense_Mutation_p.R311L|MIB2_uc001agn.2_Missense_Mutation_p.R137L|MIB2_uc001ago.2_5'Flank	p.R505L	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	11	1641_1642	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	505					A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Missense_Mutation	DNP	ENST00000357210.4	37	c.1514_1515GG>TT																																																																																					0.683	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_080875		13	9	0	0	0	0.004672	0	13	9				
LRRC47	57470	broad.mit.edu	37	1	3703627	3703627	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:3703627T>A	ENST00000378251.1	-	2	890	c.863A>T	c.(862-864)aAg>aTg	p.K288M	RP1-286D6.5_ENST00000607459.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	288							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		ccgcctctgcttcctctccct	0.672																																							uc001akx.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(862-864)AAG>ATG		leucine rich repeat containing 47							94.0	59.0	71.0					1																	3703627		2202	4300	6502	SO:0001583	missense	57470				translation		phenylalanine-tRNA ligase activity|RNA binding	g.chr1:3703627T>A	AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.863A>T	1.37:g.3703627T>A	ENSP00000367498:p.Lys288Met						p.K288M	NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)	2	891	-	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)	288					Q9ULN5	Missense_Mutation	SNP	ENST00000378251.1	37	c.863A>T	CCDS51.1	.	.	.	.	.	.	.	.	.	.	T	12.20	1.868102	0.32977	.	.	ENSG00000130764	ENST00000378251	T	0.46819	0.86	5.07	-1.27	0.09347	.	0.345078	0.26334	N	0.024978	T	0.41811	0.1175	L	0.43923	1.385	0.32072	N	0.594255	D	0.57257	0.979	P	0.50231	0.635	T	0.51787	-0.8661	10	0.56958	D	0.05	-19.1324	6.9943	0.24774	0.0:0.2641:0.1183:0.6177	.	288	Q8N1G4	LRC47_HUMAN	M	288	ENSP00000367498:K288M	ENSP00000367498:K288M	K	-	2	0	LRRC47	3693487	0.861000	0.29849	0.107000	0.21349	0.068000	0.16541	-0.009000	0.12765	-0.522000	0.06417	-0.256000	0.11100	AAG		0.672	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009744.1	NM_020710		6	50	0	0	0	0.001984	0	6	50				
PRDM2	7799	broad.mit.edu	37	1	14106677	14106677	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:14106677G>T	ENST00000235372.7	+	8	3243	c.2387G>T	c.(2386-2388)aGc>aTc	p.S796I	PRDM2_ENST00000343137.4_Missense_Mutation_p.S595I|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.S595I|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.S796I|PRDM2_ENST00000503842.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	796					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S796I(2)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GAAACTGTGAGCCCTCCATGC	0.468																																							uc001avi.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2386-2388)AGC>ATC		retinoblastoma protein-binding zinc finger							61.0	60.0	60.0					1																	14106677		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14106677G>T	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.2387G>T	1.37:g.14106677G>T	ENSP00000235372:p.Ser796Ile					PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.S796I|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.S553I|PRDM2_uc001avk.2_Missense_Mutation_p.S595I|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	p.S796I	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	3243	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	796					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.2387G>T	CCDS150.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299540	0.40694	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01871	4.71;4.59;4.59;4.59	5.91	4.98	0.66077	.	0.233513	0.50627	D	0.000107	T	0.10078	0.0247	M	0.67953	2.075	0.47584	D	0.999464	D;P;D;D	0.67145	0.994;0.883;0.994;0.996	P;B;P;P	0.61533	0.779;0.312;0.779;0.89	T	0.01036	-1.1473	10	0.72032	D	0.01	.	15.737	0.77853	0.0:0.1369:0.8631:0.0	.	796;654;796;796	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	I	796;796;796;595;595	ENSP00000235372:S796I;ENSP00000312352:S796I;ENSP00000411103:S595I;ENSP00000341621:S595I	ENSP00000235372:S796I	S	+	2	0	PRDM2	13979264	1.000000	0.71417	0.993000	0.49108	0.974000	0.67602	4.442000	0.59988	1.459000	0.47892	0.655000	0.94253	AGC		0.468	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		54	66	1	0	9.72345e-25	0.00361	1.62853e-24	54	66				
PADI1	29943	broad.mit.edu	37	1	17548865	17548865	+	Missense_Mutation	SNP	G	G	A	rs141255010	byFrequency	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:17548865G>A	ENST00000375471.4	+	2	265	c.173G>A	c.(172-174)cGt>cAt	p.R58H		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	58					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	AACCGCACACGTGTGAAAGAG	0.552													g|||	5	0.000998403	0.0	0.0	5008	,	,		18509	0.003		0.0	False		,,,				2504	0.002				Esophageal Squamous(80;414 1257 4580 27746 50832)	Esophageal Squamous(80;414 1257 4580 27746 50832)	uc001bah.1		NA																	0					0						c.(172-174)CGT>CAT		peptidylarginine deiminase type I	L-Citrulline(DB00155)						134.0	125.0	128.0					1																	17548865		2203	4300	6503	SO:0001583	missense	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17548865G>A	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.173G>A	1.37:g.17548865G>A	ENSP00000364620:p.Arg58His						p.R58H	NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	2	265	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	58					A1L4K6|Q70SX6	Missense_Mutation	SNP	ENST00000375471.4	37	c.173G>A	CCDS178.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	g	4.041	0.005214	0.07866	.	.	ENSG00000142623	ENST00000375471	T	0.09073	3.02	3.87	-7.74	0.01241	Cupredoxin (1);Protein-arginine deiminase (PAD) N-terminal (1);	1.671480	0.04167	N	0.324210	T	0.04634	0.0126	L	0.39397	1.21	0.09310	N	1	B	0.22146	0.065	B	0.19148	0.024	T	0.29366	-1.0014	10	0.42905	T	0.14	-1.4403	8.089	0.30790	0.2733:0.0:0.6103:0.1164	.	58	Q9ULC6	PADI1_HUMAN	H	58	ENSP00000364620:R58H	ENSP00000364620:R58H	R	+	2	0	PADI1	17421452	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.515000	0.06290	-1.747000	0.01333	-1.013000	0.02462	CGT		0.552	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		6	214	0	0	0	0.001168	0	6	214				
AKR7L	246181	broad.mit.edu	37	1	19595787	19595787	+	RNA	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:19595787C>G	ENST00000429712.1	-	0	802				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						GATCTCTGCCCACTGAGTCCC	0.587																																							uc010ocx.1		NA																	0					0						c.(682-684)TGG>TCG		aflatoxin B1 aldehyde reductase 3 isoform 1							108.0	114.0	112.0					1																	19595787		692	1591	2283			246181							g.chr1:19595787C>G			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19595787C>G						AKR7L_uc010ocy.1_Intron	p.W228S	NM_201252	NP_957704					6	683	-								Q5U614	Missense_Mutation	SNP	ENST00000429712.1	37	c.683G>C		.	.	.	.	.	.	.	.	.	.	C	15.05	2.718799	0.48622	.	.	ENSG00000211454	ENST00000429712;ENST00000388886	.	.	.	3.88	0.665	0.17896	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.63236	0.2494	.	.	.	0.80722	D	1	D	0.55172	0.97	P	0.62089	0.898	T	0.57412	-0.7816	8	0.32370	T	0.25	.	6.5074	0.22202	0.3405:0.5681:0.0:0.0914	.	228	Q8NHP1	ARK74_HUMAN	S	228;193	.	ENSP00000373538:W193S	W	-	2	0	AKR7L	19468374	1.000000	0.71417	0.000000	0.03702	0.010000	0.07245	3.282000	0.51693	0.026000	0.15269	0.305000	0.20034	TGG		0.587	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		6	63	0	0	0	0.001168	0	6	63				
KIF17	57576	broad.mit.edu	37	1	21014281	21014281	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:21014281G>A	ENST00000247986.2	-	8	1848	c.1538C>T	c.(1537-1539)tCc>tTc	p.S513F	KIF17_ENST00000400463.3_Missense_Mutation_p.S513F|KIF17_ENST00000375044.1_Missense_Mutation_p.S413F|KIF17_ENST00000490034.1_Intron			Q9P2E2	KIF17_HUMAN	kinesin family member 17	513					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.S513F(2)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CTGAGTCTTGGAGACATCGTC	0.542																																							uc001bdr.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(1)	4						c.(1537-1539)TCC>TTC		kinesin family member 17 isoform a							85.0	81.0	83.0					1																	21014281		2203	4300	6503	SO:0001583	missense	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21014281G>A	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1538C>T	1.37:g.21014281G>A	ENSP00000247986:p.Ser513Phe					KIF17_uc001bdp.3_5'Flank|KIF17_uc001bdq.3_5'Flank|KIF17_uc009vpx.2_Intron|KIF17_uc001bds.3_Missense_Mutation_p.S513F	p.S513F	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	8	1656	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	513					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	c.1538C>T	CCDS213.1	.	.	.	.	.	.	.	.	.	.	G	0.486	-0.877527	0.02550	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.71461	-0.57;-0.47;-0.47	4.87	0.366	0.16136	.	1.551890	0.04736	U	0.422014	T	0.46678	0.1405	N	0.04203	-0.255	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.10450	0.005;0.002	T	0.36768	-0.9734	10	0.49607	T	0.09	.	3.1573	0.06509	0.098:0.3234:0.4127:0.1659	.	513;513	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	F	413;513;513	ENSP00000364184:S413F;ENSP00000383311:S513F;ENSP00000247986:S513F	ENSP00000247986:S513F	S	-	2	0	KIF17	20886868	0.006000	0.16342	0.009000	0.14445	0.008000	0.06430	0.402000	0.20965	0.198000	0.20407	-0.499000	0.04595	TCC		0.542	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		24	190	0	0	0	0.00333	0	24	190				
EPHA8	2046	broad.mit.edu	37	1	22903323	22903323	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:22903323G>T	ENST00000166244.3	+	3	845	c.773G>T	c.(772-774)gGc>gTc	p.G258V	EPHA8_ENST00000538803.1_Missense_Mutation_p.G258V|EPHA8_ENST00000374644.4_Missense_Mutation_p.G258V	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	258	Cys-rich.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.G258V(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GTGCCCATCGGCAAATGCGTG	0.682																																							uc001bfx.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13						c.(772-774)GGC>GTC		ephrin receptor EphA8 isoform 1 precursor							33.0	34.0	33.0					1																	22903323		2203	4299	6502	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22903323G>T	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.773G>T	1.37:g.22903323G>T	ENSP00000166244:p.Gly258Val					EPHA8_uc001bfw.2_Missense_Mutation_p.G258V	p.G258V	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	3	898	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	258			Extracellular (Potential).|Cys-rich.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.773G>T	CCDS225.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174138	0.78452	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;D;D	0.97553	-1.04;-4.43;-4.43	4.09	4.09	0.47781	Tyrosine-protein kinase, receptor class V, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98852	0.9612	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.99466	1.0944	10	0.87932	D	0	.	15.0354	0.71741	0.0:0.0:1.0:0.0	.	258;258	P29322;P29322-2	EPHA8_HUMAN;.	V	258	ENSP00000166244:G258V;ENSP00000363775:G258V;ENSP00000440274:G258V	ENSP00000166244:G258V	G	+	2	0	EPHA8	22775910	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.563000	0.98148	2.103000	0.63969	0.442000	0.29010	GGC		0.682	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		9	47	1	0	0.000442599	0.006214	0.000475707	9	47				
ATPIF1	93974	broad.mit.edu	37	1	28564412	28564412	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:28564412A>C	ENST00000335514.5	+	3	295	c.244A>C	c.(244-246)Aag>Cag	p.K82Q	ATPIF1_ENST00000468425.2_Intron|ATPIF1_ENST00000497986.1_3'UTR|ATPIF1_ENST00000465645.1_3'UTR|RP5-1092A3.4_ENST00000604716.1_RNA	NM_016311.4	NP_057395.1	Q9UII2	ATIF1_HUMAN	ATPase inhibitory factor 1	82	Antiparallel alpha-helical coiled coil region. {ECO:0000250}.				angiogenesis (GO:0001525)|erythrocyte differentiation (GO:0030218)|generation of precursor metabolites and energy (GO:0006091)|heme biosynthetic process (GO:0006783)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of nucleotide metabolic process (GO:0045980)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|reactive oxygen species metabolic process (GO:0072593)	cell surface (GO:0009986)|mitochondrion (GO:0005739)	angiostatin binding (GO:0043532)|ATPase binding (GO:0051117)|ATPase inhibitor activity (GO:0042030)|calmodulin binding (GO:0005516)|enzyme inhibitor activity (GO:0004857)|protein homodimerization activity (GO:0042803)	p.K82Q(2)		lung(4)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CGTTCATCATAAGAAGGAGAT	0.408																																							uc001bpq.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(244-246)AAG>CAG		ATPase inhibitory factor 1 isoform 1 precursor							103.0	94.0	97.0					1																	28564412		2203	4300	6503	SO:0001583	missense	93974				angiogenesis|generation of precursor metabolites and energy|negative regulation of endothelial cell proliferation|negative regulation of hydrolase activity|negative regulation of nucleotide metabolic process|protein homotetramerization	cell surface|mitochondrion	angiostatin binding|ATPase binding|ATPase inhibitor activity|calmodulin binding|protein homodimerization activity	g.chr1:28564412A>C	AL050386	CCDS319.1, CCDS320.1, CCDS44096.1	1p35.3	2011-07-04			ENSG00000130770	ENSG00000130770		"""Mitochondrial respiratory chain complex / Complex V"""	871	protein-coding gene	gene with protein product	"""ATPase inhibitor protein"", ""ATP synthase inhibitor protein"""	614981				10664857, 19559621	Standard	NM_016311		Approved	ATPI, IP, ATPIP, MGC1167, MGC8898	uc001bpq.3	Q9UII2	OTTHUMG00000003533	ENST00000335514.5:c.244A>C	1.37:g.28564412A>C	ENSP00000335203:p.Lys82Gln					ATPIF1_uc001bpp.2_3'UTR|ATPIF1_uc001bpr.2_3'UTR	p.K82Q	NM_016311	NP_057395	Q9UII2	ATIF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)	3	328	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	82			Potential.		Q5JXL8|Q6IAQ7|Q9BSL9	Missense_Mutation	SNP	ENST00000335514.5	37	c.244A>C	CCDS319.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.243928	0.39697	.	.	ENSG00000130770	ENST00000335514	D	0.91295	-2.82	5.59	-5.18	0.02840	.	0.651352	0.16434	N	0.214596	T	0.76863	0.4047	N	0.21194	0.64	0.09310	N	0.999999	B	0.24258	0.1	B	0.27608	0.081	T	0.64516	-0.6389	10	0.27785	T	0.31	1.4893	2.513	0.04661	0.3459:0.2829:0.2744:0.0968	.	82	Q9UII2	ATIF1_HUMAN	Q	82	ENSP00000335203:K82Q	ENSP00000335203:K82Q	K	+	1	0	ATPIF1	28436999	0.013000	0.17824	0.000000	0.03702	0.985000	0.73830	0.145000	0.16157	-0.851000	0.04147	0.459000	0.35465	AAG		0.408	ATPIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009841.1	NM_016311		28	49	0	0	0	0.004656	0	28	49				
ATPIF1	93974	broad.mit.edu	37	1	28564414	28564414	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:28564414G>T	ENST00000335514.5	+	3	297	c.246G>T	c.(244-246)aaG>aaT	p.K82N	ATPIF1_ENST00000468425.2_Intron|ATPIF1_ENST00000497986.1_3'UTR|ATPIF1_ENST00000465645.1_3'UTR|RP5-1092A3.4_ENST00000604716.1_RNA	NM_016311.4	NP_057395.1	Q9UII2	ATIF1_HUMAN	ATPase inhibitory factor 1	82	Antiparallel alpha-helical coiled coil region. {ECO:0000250}.				angiogenesis (GO:0001525)|erythrocyte differentiation (GO:0030218)|generation of precursor metabolites and energy (GO:0006091)|heme biosynthetic process (GO:0006783)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of nucleotide metabolic process (GO:0045980)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|reactive oxygen species metabolic process (GO:0072593)	cell surface (GO:0009986)|mitochondrion (GO:0005739)	angiostatin binding (GO:0043532)|ATPase binding (GO:0051117)|ATPase inhibitor activity (GO:0042030)|calmodulin binding (GO:0005516)|enzyme inhibitor activity (GO:0004857)|protein homodimerization activity (GO:0042803)	p.K82N(2)		lung(4)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		TTCATCATAAGAAGGAGATTG	0.418																																							uc001bpq.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(244-246)AAG>AAT		ATPase inhibitory factor 1 isoform 1 precursor							103.0	94.0	97.0					1																	28564414		2203	4300	6503	SO:0001583	missense	93974				angiogenesis|generation of precursor metabolites and energy|negative regulation of endothelial cell proliferation|negative regulation of hydrolase activity|negative regulation of nucleotide metabolic process|protein homotetramerization	cell surface|mitochondrion	angiostatin binding|ATPase binding|ATPase inhibitor activity|calmodulin binding|protein homodimerization activity	g.chr1:28564414G>T	AL050386	CCDS319.1, CCDS320.1, CCDS44096.1	1p35.3	2011-07-04			ENSG00000130770	ENSG00000130770		"""Mitochondrial respiratory chain complex / Complex V"""	871	protein-coding gene	gene with protein product	"""ATPase inhibitor protein"", ""ATP synthase inhibitor protein"""	614981				10664857, 19559621	Standard	NM_016311		Approved	ATPI, IP, ATPIP, MGC1167, MGC8898	uc001bpq.3	Q9UII2	OTTHUMG00000003533	ENST00000335514.5:c.246G>T	1.37:g.28564414G>T	ENSP00000335203:p.Lys82Asn					ATPIF1_uc001bpp.2_3'UTR|ATPIF1_uc001bpr.2_3'UTR	p.K82N	NM_016311	NP_057395	Q9UII2	ATIF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)	3	330	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	82			Potential.		Q5JXL8|Q6IAQ7|Q9BSL9	Missense_Mutation	SNP	ENST00000335514.5	37	c.246G>T	CCDS319.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929604	0.52759	.	.	ENSG00000130770	ENST00000335514	D	0.92299	-3.01	5.59	1.44	0.22558	.	0.651352	0.16434	N	0.214596	D	0.89413	0.6708	M	0.64997	1.995	0.40991	D	0.984855	P	0.36392	0.551	B	0.40901	0.343	D	0.83520	0.0085	10	0.49607	T	0.09	1.4893	5.1684	0.15098	0.2825:0.0:0.5784:0.1391	.	82	Q9UII2	ATIF1_HUMAN	N	82	ENSP00000335203:K82N	ENSP00000335203:K82N	K	+	3	2	ATPIF1	28437001	0.981000	0.34729	0.073000	0.20177	0.988000	0.76386	1.556000	0.36288	-0.002000	0.14469	0.561000	0.74099	AAG		0.418	ATPIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009841.1	NM_016311		26	49	1	0	1.64293e-13	0.00333	2.36686e-13	26	49				
ATPAF1	64756	broad.mit.edu	37	1	47131032	47131032	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:47131032C>A	ENST00000371937.4	-	2	375	c.271G>T	c.(271-273)Gac>Tac	p.D91Y	ATPAF1_ENST00000525633.1_5'UTR|ATPAF1_ENST00000576409.1_Missense_Mutation_p.D114Y|ATPAF1_ENST00000574428.1_Missense_Mutation_p.D91Y|ATPAF1_ENST00000329231.4_Missense_Mutation_p.D114Y|ATPAF1_ENST00000542495.1_5'UTR|EFCAB14_ENST00000544071.1_Missense_Mutation_p.Q375H|ATPAF1_ENST00000532925.1_Missense_Mutation_p.D3Y	NM_022745.4	NP_073582.3	Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	91					protein complex assembly (GO:0006461)	mitochondrion (GO:0005739)		p.D91Y(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					GCAGCTGGGTCTGACCTGATC	0.463																																					Melanoma(138;107 1777 21672 30337 52312)		uc010omh.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1123-1125)CAG>CAT		hypothetical protein LOC9813							50.0	52.0	51.0					1																	47131032		2203	4300	6503	SO:0001583	missense	9813						calcium ion binding	g.chr1:47131032C>A	AK026004	CCDS541.1, CCDS41327.1, CCDS541.2, CCDS41327.2, CCDS57997.1, CCDS57998.1	1p33-p32.3	2012-10-12			ENSG00000123472	ENSG00000123472		"""Mitochondrial respiratory chain complex assembly factors"""	18803	protein-coding gene	gene with protein product		608917				11410595	Standard	NM_022745		Approved	FLJ22351, Atp11p, ATP11	uc001cqh.4	Q5TC12	OTTHUMG00000007988	ENST00000371937.4:c.271G>T	1.37:g.47131032C>A	ENSP00000361005:p.Asp91Tyr					ATPAF1_uc001cqg.2_5'UTR|ATPAF1_uc009vyk.2_5'UTR|ATPAF1_uc010omg.1_Missense_Mutation_p.D3Y|ATPAF1_uc001cqh.2_Missense_Mutation_p.D91Y|ATPAF1_uc001cqi.2_Missense_Mutation_p.D91Y	p.Q375H	NM_014774	NP_055589	O75071	K0494_HUMAN			10	2102	-	Acute lymphoblastic leukemia(166;0.155)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B1AQW7|B7Z7D6|B7Z7I6|Q9H6E3	Missense_Mutation	SNP	ENST00000371937.4	37	c.1125G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.948750|3.948750	0.73787|0.73787	.|.	.|.	ENSG00000123472|ENSG00000159658	ENST00000371937;ENST00000526821;ENST00000329231;ENST00000532925|ENST00000544071	T|T	0.48522|0.43688	0.81|0.94	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.160375|.	0.52532|.	D|.	0.000075|.	T|T	0.38108|0.38108	0.1028|0.1028	L|L	0.48642|0.48642	1.525|1.525	0.20307|0.20307	N|N	0.999913|0.999913	D;D;D|P	0.76494|0.34546	0.975;0.999;0.993|0.456	P;D;P|B	0.71184|0.34301	0.832;0.972;0.889|0.179	T|T	0.40156|0.40156	-0.9578|-0.9578	10|9	0.59425|0.72032	D|D	0.04|0.01	-17.7915|-17.7915	10.6865|10.6865	0.45846|0.45846	0.0:0.9135:0.0:0.0865|0.0:0.9135:0.0:0.0865	.|.	3;91;91|375	B7Z7I6;A8MRA7;Q5TC12|F5H7K3	.;.;ATPF1_HUMAN|.	Y|H	91;5;91;3|375	ENSP00000361005:D91Y|ENSP00000442465:Q375H	ENSP00000330685:D91Y|ENSP00000442465:Q375H	D|Q	-|-	1|3	0|2	ATPAF1|KIAA0494	46903619|46903619	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	2.811000|2.811000	0.47986|0.47986	2.673000|2.673000	0.90976|0.90976	0.585000|0.585000	0.79938|0.79938	GAC|CAG		0.463	ATPAF1-201	KNOWN	basic	protein_coding	protein_coding		NM_022745		7	67	1	0	8.12818e-05	0.001984	8.96563e-05	7	67				
SLC5A9	200010	broad.mit.edu	37	1	48694626	48694626	+	Splice_Site	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:48694626C>T	ENST00000438567.2	+	3	391	c.339C>T	c.(337-339)aaC>aaT	p.N113N	RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000533824.1_Splice_Site_p.N113N|SLC5A9_ENST00000420136.2_Splice_Site_p.N106N|SLC5A9_ENST00000236495.5_Splice_Site_p.N113N	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	113					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.N106N(1)		breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						TCGAGTGGAACGTAAGGAAGC	0.582																																							uc001cro.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(337-339)AAC>AAT		solute carrier family 5 (sodium/glucose							76.0	77.0	77.0					1																	48694626		2203	4300	6503	SO:0001630	splice_region_variant	200010					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	g.chr1:48694626C>T	BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.339+1C>T	1.37:g.48694626C>T						SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Silent_p.N113N|SLC5A9_uc010omt.1_Silent_p.N106N|SLC5A9_uc001crp.2_Translation_Start_Site|SLC5A9_uc010omu.1_Translation_Start_Site	p.N113N	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN			3	391	+			113			Extracellular (Potential).		B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Silent	SNP	ENST00000438567.2	37	c.339C>T	CCDS30709.2																																																																																				0.582	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174	Silent	10	145	0	0	0	0.006214	0	10	145				
IL12RB2	3595	broad.mit.edu	37	1	67833708	67833708	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:67833708G>T	ENST00000262345.1	+	10	2099	c.1459G>T	c.(1459-1461)Gag>Tag	p.E487*	IL12RB2_ENST00000371000.1_Splice_Site_p.E487*|IL12RB2_ENST00000541374.1_Splice_Site_p.E487*|IL12RB2_ENST00000544434.1_Splice_Site_p.E487*	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	487	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)	p.E487*(2)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TCTGATTTCAGGTACCTAATT	0.502																																							uc001ddu.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(1459-1461)GAG>TAG		interleukin 12 receptor, beta 2 precursor							140.0	121.0	128.0					1																	67833708		2203	4300	6503	SO:0001630	splice_region_variant	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67833708G>T	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.1459+1G>T	1.37:g.67833708G>T						IL12RB2_uc010oqi.1_Nonsense_Mutation_p.E487*|IL12RB2_uc010oqj.1_Nonsense_Mutation_p.E487*|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Nonsense_Mutation_p.E487*|IL12RB2_uc010oqm.1_Nonsense_Mutation_p.E487*|IL12RB2_uc010oqn.1_RNA	p.E487*	NM_001559	NP_001550	Q99665	I12R2_HUMAN			10	2099	+			487			Fibronectin type-III 4.|Extracellular (Potential).		B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Nonsense_Mutation	SNP	ENST00000262345.1	37	c.1459G>T	CCDS638.1	.	.	.	.	.	.	.	.	.	.	G	38	6.941844	0.97952	.	.	ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434	.	.	.	5.02	5.02	0.67125	.	0.199035	0.52532	D	0.000067	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-16.5631	13.709	0.62656	0.0:0.0:1.0:0.0	.	.	.	.	X	487	.	ENSP00000262345:E487X	E	+	1	0	IL12RB2	67606296	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	4.476000	0.60216	2.607000	0.88179	0.655000	0.94253	GAG;GAG;GAG;GAA		0.502	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559	Nonsense_Mutation	20	99	1	0	8.34094e-07	0.008871	9.83618e-07	20	99				
FUBP1	8880	broad.mit.edu	37	1	78422351	78422351	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:78422351C>A	ENST00000370768.2	-	17	1692	c.1611G>T	c.(1609-1611)tgG>tgT	p.W537C	FUBP1_ENST00000436586.2_Missense_Mutation_p.W558C|FUBP1_ENST00000370767.1_Missense_Mutation_p.W537C	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	537	Pro-rich.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)	p.W537C(2)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AATAAGCAGCCCAAGCTGCTG	0.453			"""F, N"""		oligodendroglioma																																		uc001dii.2		NA		Rec	yes		1	1p13.1	8880		far upstream element (FUSE) binding protein 1			O					2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|lung(1)	3						c.(1609-1611)TGG>TGT		far upstream element-binding protein							145.0	139.0	141.0					1																	78422351		2203	4300	6503	SO:0001583	missense	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78422351C>A	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1611G>T	1.37:g.78422351C>A	ENSP00000359804:p.Trp537Cys					FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Missense_Mutation_p.W558C	p.W537C	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN			17	1700	-			537			Pro-rich.		Q12828	Missense_Mutation	SNP	ENST00000370768.2	37	c.1611G>T	CCDS683.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700100	0.68501	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	T;T;T	0.34667	1.35;1.35;1.35	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.55130	0.1901	M	0.73217	2.22	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.72338	0.977;0.977	T	0.53683	-0.8404	10	0.52906	T	0.07	-7.0616	19.9659	0.97266	0.0:1.0:0.0:0.0	.	558;537	B4DT31;Q96AE4	.;FUBP1_HUMAN	C	536;537;537;522;558	ENSP00000359803:W537C;ENSP00000359804:W537C;ENSP00000389536:W558C	ENSP00000294623:W536C	W	-	3	0	FUBP1	78194939	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.625000	0.83145	2.711000	0.92665	0.650000	0.86243	TGG		0.453	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		19	110	1	0	6.94344e-10	0.006122	9.02648e-10	19	110				
ZNF326	284695	broad.mit.edu	37	1	90470716	90470716	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:90470716G>T	ENST00000340281.4	+	4	265	c.122G>T	c.(121-123)gGa>gTa	p.G41V	ZNF326_ENST00000361911.5_Missense_Mutation_p.G41V|ZNF326_ENST00000370447.3_Missense_Mutation_p.G41V|ZNF326_ENST00000455342.2_Intron	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	41	Gly-rich.|Mediates transcriptional activation. {ECO:0000250}.				mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)	p.G41V(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TATGGCCATGGATCCTATGGG	0.408																																							uc001dnq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(121-123)GGA>GTA		zinc finger protein 326 isoform 1							116.0	118.0	117.0					1																	90470716		2203	4300	6503	SO:0001583	missense	284695				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding	g.chr1:90470716G>T	BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"""Zinc fingers, C2H2-type"""	14104	protein-coding gene	gene with protein product	"""ZNF-protein interacting with nuclear mRNPs and DBC1"""	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.122G>T	1.37:g.90470716G>T	ENSP00000340796:p.Gly41Val					ZNF326_uc001dnp.3_Missense_Mutation_p.G41V|ZNF326_uc009wda.1_Missense_Mutation_p.G41V|ZNF326_uc001dnr.2_Intron	p.G41V	NM_182976	NP_892021	Q5BKZ1	ZN326_HUMAN		all cancers(265;0.00728)|Epithelial(280;0.0265)	4	261	+		all_lung(203;0.0116)|Lung NSC(277;0.0417)	41			Mediates transcriptional activation (By similarity).|Gly-rich.		A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Missense_Mutation	SNP	ENST00000340281.4	37	c.122G>T	CCDS727.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018482	0.75275	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000361911;ENST00000370447	T;T	0.65364	-0.15;0.65	5.4	5.4	0.78164	.	0.428164	0.24291	N	0.039819	T	0.67021	0.2849	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.71159	-0.4674	10	0.87932	D	0	-14.181	17.331	0.87264	0.0:0.0:1.0:0.0	.	41;41	A8MYX1;Q5BKZ1	.;ZN326_HUMAN	V	41	ENSP00000340796:G41V;ENSP00000359476:G41V	ENSP00000340796:G41V	G	+	2	0	ZNF326	90243304	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.773000	0.62331	2.511000	0.84671	0.467000	0.42956	GGA		0.408	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781		58	96	1	0	1.4709e-25	0.00361	2.49413e-25	58	96				
KCNA2	3737	broad.mit.edu	37	1	111146880	111146880	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:111146880G>T	ENST00000485317.1	-	3	1198	c.525C>A	c.(523-525)atC>atA	p.I175I	KCNA2_ENST00000440270.1_Silent_p.I175I|KCNA2_ENST00000316361.4_Silent_p.I175I|KCNA2_ENST00000369770.3_Silent_p.I175I|KCNA2_ENST00000525120.1_Intron			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	175					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.I175I(2)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	TGACAATTGAGATCAGAATCA	0.463																																					Pancreas(18;568 735 10587 23710 36357)	Pancreas(18;568 735 10587 23710 36357)	uc001dzu.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(523-525)ATC>ATA		potassium voltage-gated channel, shaker-related							103.0	104.0	104.0					1																	111146880		2203	4300	6503	SO:0001819	synonymous_variant	3737					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111146880G>T	L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.525C>A	1.37:g.111146880G>T						KCNA2_uc009wfv.1_Silent_p.I175I|KCNA2_uc009wfw.2_Silent_p.I175I	p.I175I	NM_004974	NP_004965	P16389	KCNA2_HUMAN		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	2	1021	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	175			Helical; Name=Segment S1; (Potential).		Q86XG6	Silent	SNP	ENST00000485317.1	37	c.525C>A	CCDS827.1																																																																																				0.463	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974		58	74	1	0	4.96213e-28	0.00361	8.65599e-28	58	74				
CTTNBP2NL	55917	broad.mit.edu	37	1	112999276	112999276	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:112999276G>T	ENST00000271277.6	+	6	1387	c.1162G>T	c.(1162-1164)Gag>Tag	p.E388*		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	388					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)	p.E388*(2)|p.E388K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAACCAGTGGAGAATGGTGG	0.552																																							uc001ebx.2		NA																	3	Substitution - Nonsense(2)|Substitution - Missense(1)		lung(3)	central_nervous_system(2)|ovary(1)	3						c.(1162-1164)GAG>TAG		CTTNBP2 N-terminal like							102.0	110.0	108.0					1																	112999276		2203	4300	6503	SO:0001587	stop_gained	55917					actin cytoskeleton	protein binding	g.chr1:112999276G>T	AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.1162G>T	1.37:g.112999276G>T	ENSP00000271277:p.Glu388*					CTTNBP2NL_uc001ebz.2_5'Flank	p.E388*	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1390	+		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)	388					B3KMS5|Q96B40	Nonsense_Mutation	SNP	ENST00000271277.6	37	c.1162G>T	CCDS845.1	.	.	.	.	.	.	.	.	.	.	G	37	6.212873	0.97380	.	.	ENSG00000143079	ENST00000271277	.	.	.	5.69	4.77	0.60923	.	0.153883	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-28.1516	14.7337	0.69402	0.0716:0.0:0.9284:0.0	.	.	.	.	X	388	.	ENSP00000271277:E388X	E	+	1	0	CTTNBP2NL	112800799	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	4.721000	0.61951	2.678000	0.91216	0.563000	0.77884	GAG		0.552	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1	NM_018704		116	182	1	0	3.69185e-53	0.00361	7.4935e-53	116	182				
PIAS3	10401	broad.mit.edu	37	1	145578690	145578690	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:145578690C>T	ENST00000393045.2	+	3	586	c.496C>T	c.(496-498)Ccc>Tcc	p.P166S	PIAS3_ENST00000369299.3_Missense_Mutation_p.P157S|PIAS3_ENST00000369298.1_Missense_Mutation_p.P131S	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	166	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)	p.P157S(2)|p.P166S(2)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGCCCTCACACCCCAGCAAGT	0.527																																							uc001eoc.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(496-498)CCC>TCC		protein inhibitor of activated STAT, 3							205.0	179.0	188.0					1																	145578690		2203	4300	6503	SO:0001583	missense	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145578690C>T	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.496C>T	1.37:g.145578690C>T	ENSP00000376765:p.Pro166Ser					NBPF10_uc001emp.3_Intron|PIAS3_uc010oyy.1_Missense_Mutation_p.P157S|PIAS3_uc001eod.1_5'Flank	p.P166S	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN			3	587	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		166			PINIT.		Q9UFI3	Missense_Mutation	SNP	ENST00000393045.2	37	c.496C>T	CCDS920.2	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584736	0.86748	.	.	ENSG00000131788	ENST00000393046;ENST00000369299;ENST00000393045;ENST00000369298	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	4.22	4.22	0.49857	PINIT domain (1);	0.000000	0.48767	D	0.000173	T	0.55353	0.1915	M	0.70595	2.14	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.987;0.998	T	0.61613	-0.7027	10	0.87932	D	0	-12.2017	14.1387	0.65306	0.0:1.0:0.0:0.0	.	157;166	F8WA94;Q9Y6X2	.;PIAS3_HUMAN	S	157;157;166;131	ENSP00000376766:P157S;ENSP00000358305:P157S;ENSP00000376765:P166S;ENSP00000358304:P131S	ENSP00000358304:P131S	P	+	1	0	PIAS3	144290047	1.000000	0.71417	0.966000	0.40874	0.997000	0.91878	7.556000	0.82233	2.169000	0.68431	0.655000	0.94253	CCC		0.527	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		23	186	0	0	0	0.00278	0	23	186				
SELENBP1	8991	broad.mit.edu	37	1	151338093	151338093	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:151338093C>A	ENST00000368868.5	-	9	1081	c.990G>T	c.(988-990)ggG>ggT	p.G330G	SELENBP1_ENST00000435071.1_Silent_p.G266G|SELENBP1_ENST00000426705.2_Silent_p.G372G|SELENBP1_ENST00000473693.1_5'Flank|SELENBP1_ENST00000447402.3_Silent_p.G268G	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	330					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)	p.G330G(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCCTCAGGTCCCCATGCAGCC	0.592																																							uc001exx.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(988-990)GGG>GGT		selenium binding protein 1							126.0	137.0	133.0					1																	151338093		2203	4300	6503	SO:0001819	synonymous_variant	8991				protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	g.chr1:151338093C>A	U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.990G>T	1.37:g.151338093C>A						SELENBP1_uc010pcy.1_Silent_p.G372G|SELENBP1_uc001exy.2_Silent_p.G227G|SELENBP1_uc001exz.2_Silent_p.G227G|SELENBP1_uc010pcz.1_Silent_p.G268G|SELENBP1_uc009wms.2_Silent_p.G166G|SELENBP1_uc009wmt.2_Silent_p.G227G|SELENBP1_uc001eya.2_Silent_p.G266G|SELENBP1_uc009wmu.2_Silent_p.G227G	p.G330G	NM_003944	NP_003935	Q13228	SBP1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		9	1037	-	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		330					A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Silent	SNP	ENST00000368868.5	37	c.990G>T	CCDS995.1	.	.	.	.	.	.	.	.	.	.	C	8.412	0.844389	0.16963	.	.	ENSG00000143416	ENST00000424475	T	0.40756	1.02	5.24	0.427	0.16489	.	0.000000	0.85682	D	0.000000	T	0.32133	0.0819	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22173	-1.0224	7	0.87932	D	0	-14.2777	5.855	0.18714	0.2533:0.56:0.1115:0.0751	.	.	.	.	V	291	ENSP00000396209:G291V	ENSP00000396209:G291V	G	-	2	0	SELENBP1	149604717	0.105000	0.21958	0.981000	0.43875	0.864000	0.49448	-0.641000	0.05434	0.182000	0.20032	0.655000	0.94253	GGG		0.592	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4			159	210	1	0	1.56066e-67	0.00361	3.20347e-67	159	210				
TCHHL1	126637	broad.mit.edu	37	1	152058156	152058156	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:152058156G>A	ENST00000368806.1	-	3	2066	c.2002C>T	c.(2002-2004)Ctg>Ttg	p.L668L		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	668							calcium ion binding (GO:0005509)	p.L668L(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCTATTTCCAGGGACTTTCTA	0.507																																							uc001ezo.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(2002-2004)CTG>TTG		trichohyalin-like 1							157.0	162.0	160.0					1																	152058156		2203	4300	6503	SO:0001819	synonymous_variant	126637						calcium ion binding	g.chr1:152058156G>A		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.2002C>T	1.37:g.152058156G>A							p.L668L	NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	2067	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		668					B2RPK8|Q5VTJ9	Silent	SNP	ENST00000368806.1	37	c.2002C>T	CCDS30857.1																																																																																				0.507	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		53	293	0	0	0	0.00361	0	53	293				
FLG2	388698	broad.mit.edu	37	1	152323916	152323916	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:152323916C>A	ENST00000388718.5	-	3	6418	c.6346G>T	c.(6346-6348)Ggg>Tgg	p.G2116W	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2116					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G2116W(2)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGAGACCCCTGAGTGCACT	0.532																																							uc001ezw.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(6346-6348)GGG>TGG		filaggrin family member 2							475.0	438.0	450.0					1																	152323916		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152323916C>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6346G>T	1.37:g.152323916C>A	ENSP00000373370:p.Gly2116Trp					uc001ezv.2_Intron	p.G2116W	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6419	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2116					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.6346G>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.318175	0.40996	.	.	ENSG00000143520	ENST00000388718	T	0.03920	3.76	4.12	-2.84	0.05751	.	.	.	.	.	T	0.07324	0.0185	M	0.79258	2.445	0.09310	N	1	D	0.76494	0.999	D	0.76071	0.987	T	0.07986	-1.0744	9	0.72032	D	0.01	0.0847	5.4831	0.16735	0.0:0.2968:0.4318:0.2714	.	2116	Q5D862	FILA2_HUMAN	W	2116	ENSP00000373370:G2116W	ENSP00000373370:G2116W	G	-	1	0	FLG2	150590540	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.556000	0.05992	-0.506000	0.06558	0.551000	0.68910	GGG		0.532	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		123	664	1	0	3.58676e-45	0.00361	7.09555e-45	123	664				
PGLYRP4	57115	broad.mit.edu	37	1	153312856	153312856	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:153312856C>A	ENST00000359650.5	-	7	889		c.e7+1		PGLYRP4_ENST00000368739.3_Splice_Site	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4						defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.?(3)		breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GACCCACTCACTTATAACCAA	0.512																																							uc001fbo.2		NA																	3	Unknown(3)		lung(3)	ovary(3)|skin(1)	4						c.e7+1		peptidoglycan recognition protein-I-beta							94.0	92.0	93.0					1																	153312856		2203	4300	6503	SO:0001630	splice_region_variant	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153312856C>A	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.824+1G>T	1.37:g.153312856C>A						PGLYRP4_uc001fbp.2_Splice_Site_p.N271_splice	p.N275_splice	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		7	889	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)							A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Splice_Site	SNP	ENST00000359650.5	37	c.824_splice	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090251	0.36855	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	.	.	.	3.64	3.64	0.41730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9823	0.47501	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PGLYRP4	151579480	1.000000	0.71417	0.987000	0.45799	0.054000	0.15201	3.668000	0.54554	1.988000	0.58038	0.655000	0.94253	.		0.512	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393	Intron	56	80	1	0	1.53716e-24	0.00361	2.56663e-24	56	80				
S100A7	6278	broad.mit.edu	37	1	153430349	153430349	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:153430349C>A	ENST00000368723.3	-	3	349	c.239G>T	c.(238-240)gGa>gTa	p.G80V	S100A7_ENST00000368722.1_Missense_Mutation_p.G80V	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	80	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				angiogenesis (GO:0001525)|defense response to Gram-negative bacterium (GO:0050829)|epidermis development (GO:0008544)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of granulocyte chemotaxis (GO:0071624)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of T cell chemotaxis (GO:0010820)|response to lipopolysaccharide (GO:0032496)|response to reactive oxygen species (GO:0000302)|sequestering of metal ion (GO:0051238)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)	p.G80V(2)		breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCTATGTCTCCCAGCAAGGA	0.527																																							uc001fbv.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(238-240)GGA>GTA		S100 calcium binding protein A7							105.0	93.0	97.0					1																	153430349		2203	4300	6503	SO:0001583	missense	6278				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding	g.chr1:153430349C>A	BC034687	CCDS1039.1	1q21	2013-01-10	2006-09-11		ENSG00000143556	ENSG00000143556		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10497	protein-coding gene	gene with protein product		600353	"""S100 calcium-binding protein A7 (psoriasin 1)"", ""S100 calcium binding protein A7 (psoriasin 1)"""	PSOR1		1940442	Standard	NM_002963		Approved	S100A7c	uc001fbv.1	P31151	OTTHUMG00000013123	ENST00000368723.3:c.239G>T	1.37:g.153430349C>A	ENSP00000357712:p.Gly80Val						p.G80V	NM_002963	NP_002954	P31151	S10A7_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	310	-	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		80			EF-hand 2.		Q5SY67|Q6FGE3|Q9H1E2	Missense_Mutation	SNP	ENST00000368723.3	37	c.239G>T	CCDS1039.1	.	.	.	.	.	.	.	.	.	.	.	12.17	1.859060	0.32884	.	.	ENSG00000143556	ENST00000368723;ENST00000368722	T;T	0.06608	3.28;3.28	2.13	-1.53	0.08611	EF-hand-like domain (1);	.	.	.	.	T	0.08088	0.0202	M	0.69823	2.125	0.18873	N	0.999988	D	0.76494	0.999	D	0.63793	0.918	T	0.11518	-1.0584	9	0.40728	T	0.16	.	9.6556	0.39923	0.0:0.3412:0.6588:0.0	.	80	P31151	S10A7_HUMAN	V	80	ENSP00000357712:G80V;ENSP00000357711:G80V	ENSP00000357711:G80V	G	-	2	0	S100A7	151696973	0.001000	0.12720	0.001000	0.08648	0.227000	0.25037	0.120000	0.15647	-0.331000	0.08501	0.173000	0.16961	GGA		0.527	S100A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036789.1	NM_002963		25	136	1	0	1.1804e-14	0.003954	1.73252e-14	25	136				
FCRL2	79368	broad.mit.edu	37	1	157737060	157737060	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:157737060C>A	ENST00000361516.3	-	6	1171	c.1123G>T	c.(1123-1125)Ggg>Tgg	p.G375W	FCRL2_ENST00000469986.1_Missense_Mutation_p.G122W|FCRL2_ENST00000392274.3_Missense_Mutation_p.G375W|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	375	Ig-like C2-type 4.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.G375W(2)|p.G122W(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACTGGGCCCCCAGGCCGTTG	0.577																																							uc001fre.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)|pancreas(1)	2						c.(1123-1125)GGG>TGG		Fc receptor-like 2 precursor							60.0	64.0	63.0					1																	157737060		2203	4300	6503	SO:0001583	missense	79368				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	g.chr1:157737060C>A	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.1123G>T	1.37:g.157737060C>A	ENSP00000355157:p.Gly375Trp					FCRL2_uc001frd.2_Missense_Mutation_p.G122W|FCRL2_uc010phz.1_Missense_Mutation_p.G375W|FCRL2_uc009wsp.2_Intron	p.G375W	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		6	1182	-	all_hematologic(112;0.0378)		375			Ig-like C2-type 4.|Extracellular (Potential).		A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	ENST00000361516.3	37	c.1123G>T	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	C	8.461	0.855277	0.17106	.	.	ENSG00000132704	ENST00000361516;ENST00000392274;ENST00000469986	T;T;T	0.04234	3.67;3.67;3.67	3.99	1.09	0.20402	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.097220	0.07092	N	0.838892	T	0.10508	0.0257	M	0.91196	3.185	0.09310	N	1	D;D;P	0.64830	0.982;0.994;0.82	P;P;P	0.59357	0.71;0.856;0.665	T	0.08638	-1.0712	10	0.87932	D	0	.	5.4709	0.16670	0.0:0.6402:0.0:0.3598	.	375;375;122	B4DVJ9;Q96LA5;Q96LA5-2	.;FCRL2_HUMAN;.	W	375;375;122	ENSP00000355157:G375W;ENSP00000376100:G375W;ENSP00000417393:G122W	ENSP00000355157:G375W	G	-	1	0	FCRL2	156003684	0.000000	0.05858	0.007000	0.13788	0.066000	0.16364	-0.861000	0.04268	0.454000	0.26884	-0.218000	0.12543	GGG		0.577	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764		82	97	1	0	4.78148e-37	0.00361	9.16032e-37	82	97				
OR10T2	128360	broad.mit.edu	37	1	158368914	158368914	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:158368914G>T	ENST00000334438.1	-	1	342	c.343C>A	c.(343-345)Ctc>Atc	p.L115I		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L115I(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					ACAGCAATGAGGAGGCAGTTG	0.498																																							uc010pih.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(343-345)CTC>ATC		olfactory receptor, family 10, subfamily T,							122.0	121.0	121.0					1																	158368914		2203	4300	6503	SO:0001583	missense	128360				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158368914G>T	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"""GPCR / Class A : Olfactory receptors"""	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.343C>A	1.37:g.158368914G>T	ENSP00000334115:p.Leu115Ile						p.L115I	NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN			1	343	-	all_hematologic(112;0.0378)		115			Helical; Name=3; (Potential).		Q6IF98	Missense_Mutation	SNP	ENST00000334438.1	37	c.343C>A	CCDS30895.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.378503	0.24944	.	.	ENSG00000186306	ENST00000334438	T	0.06371	3.31	4.56	4.56	0.56223	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35262	U	0.003329	T	0.05181	0.0138	M	0.64997	1.995	0.23727	N	0.997002	P	0.41041	0.736	B	0.40741	0.339	T	0.07424	-1.0773	10	0.52906	T	0.07	.	16.2659	0.82579	0.0:0.0:1.0:0.0	.	115	Q8NGX3	O10T2_HUMAN	I	115	ENSP00000334115:L115I	ENSP00000334115:L115I	L	-	1	0	OR10T2	156635538	0.960000	0.32886	1.000000	0.80357	0.103000	0.19146	1.425000	0.34859	2.355000	0.79922	0.650000	0.86243	CTC		0.498	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		16	139	1	0	0.000566183	0.00499	0.00060734	16	139				
OR10K2	391107	broad.mit.edu	37	1	158390454	158390454	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:158390454C>A	ENST00000314902.2	-	1	202	c.203G>T	c.(202-204)tGc>tTc	p.C68F		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C68F(2)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AATCTCAGAGCAAGAGAGGAT	0.488																																							uc010pii.1		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(202-204)TGC>TTC		olfactory receptor, family 10, subfamily K,							181.0	159.0	166.0					1																	158390454		2203	4300	6503	SO:0001583	missense	391107				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158390454C>A	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.203G>T	1.37:g.158390454C>A	ENSP00000324251:p.Cys68Phe						p.C68F	NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN			1	203	-	all_hematologic(112;0.0378)		68			Helical; Name=2; (Potential).			Missense_Mutation	SNP	ENST00000314902.2	37	c.203G>T	CCDS30896.1	.	.	.	.	.	.	.	.	.	.	C	0.645	-0.811626	0.02798	.	.	ENSG00000180708	ENST00000314902	T	0.00360	7.86	4.1	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000087	T	0.00012	0.0000	N	0.00399	-1.545	0.36304	D	0.857196	P	0.47841	0.901	B	0.32805	0.153	T	0.01397	-1.1365	10	0.02654	T	1	.	9.4209	0.38550	0.0:0.8983:0.0:0.1017	.	68	Q6IF99	O10K2_HUMAN	F	68	ENSP00000324251:C68F	ENSP00000324251:C68F	C	-	2	0	OR10K2	156657078	0.004000	0.15560	1.000000	0.80357	0.985000	0.73830	2.179000	0.42528	2.265000	0.75225	0.467000	0.42956	TGC		0.488	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		23	205	1	0	3.08376e-08	0.00333	3.80935e-08	23	205				
OR10R2	343406	broad.mit.edu	37	1	158450337	158450337	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:158450337G>T	ENST00000368152.1	+	1	670	c.670G>T	c.(670-672)Gtt>Ttt	p.V224F	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V224F(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CATTTGTGGAGTTCTTGTACT	0.423																																							uc010pik.1		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(2)|skin(1)	3						c.(670-672)GTT>TTT		olfactory receptor, family 10, subfamily R,							153.0	139.0	144.0					1																	158450337		2203	4300	6503	SO:0001583	missense	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158450337G>T	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.670G>T	1.37:g.158450337G>T	ENSP00000357134:p.Val224Phe					uc001fso.1_RNA	p.V224F	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN			1	670	+	all_hematologic(112;0.0378)		224			Helical; Name=5; (Potential).		Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	37	c.670G>T	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	g	14.36	2.511594	0.44660	.	.	ENSG00000198965	ENST00000368152	T	0.39592	1.07	4.37	3.46	0.39613	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.37571	0.1008	L	0.43701	1.375	0.09310	N	1	D	0.60575	0.988	D	0.69654	0.965	T	0.12760	-1.0535	9	0.62326	D	0.03	.	8.3543	0.32321	0.1919:0.0:0.8081:0.0	.	224	Q8NGX6	O10R2_HUMAN	F	224	ENSP00000357134:V224F	ENSP00000357134:V224F	V	+	1	0	OR10R2	156716961	0.000000	0.05858	0.118000	0.21660	0.987000	0.75469	-0.247000	0.08866	1.024000	0.39682	0.655000	0.94253	GTT		0.423	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		76	142	1	0	1.26005e-42	0.00361	2.46591e-42	76	142				
SPTA1	6708	broad.mit.edu	37	1	158607828	158607828	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:158607828C>A	ENST00000368147.4	-	36	5364	c.5184G>T	c.(5182-5184)tgG>tgT	p.W1728C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1728					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.W1728C(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CATACTCTATCCAGGATTCCT	0.408																																							uc001fst.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(5182-5184)TGG>TGT		spectrin, alpha, erythrocytic 1							153.0	140.0	144.0					1																	158607828		1893	4113	6006	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158607828C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5184G>T	1.37:g.158607828C>A	ENSP00000357129:p.Trp1728Cys						p.W1728C	NM_003126	NP_003117	P02549	SPTA1_HUMAN			36	5383	-	all_hematologic(112;0.0378)		1728			Spectrin 17.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.5184G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302363	0.81136	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.70749	-0.51;-0.51	5.65	5.65	0.86999	.	0.000000	0.30410	N	0.009696	D	0.88797	0.6534	H	0.96547	3.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91150	0.4952	10	0.87932	D	0	.	18.4695	0.90767	0.0:1.0:0.0:0.0	.	1728	P02549	SPTA1_HUMAN	C	1728	ENSP00000357130:W1728C;ENSP00000357129:W1728C	ENSP00000357129:W1728C	W	-	3	0	SPTA1	156874452	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.130000	0.77235	2.941000	0.99782	0.655000	0.94253	TGG		0.408	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		80	163	1	0	8.40228e-50	0.00361	1.68663e-49	80	163				
SPTA1	6708	broad.mit.edu	37	1	158617395	158617395	+	Missense_Mutation	SNP	C	C	A	rs201407861		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:158617395C>A	ENST00000368147.4	-	27	4010	c.3830G>T	c.(3829-3831)cGt>cTt	p.R1277L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1277					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R1277L(2)|p.R1277H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCCTTTGTACGCCCCTGCAG	0.557																																							uc001fst.1		NA																	3	Substitution - Missense(3)		lung(2)|large_intestine(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(3829-3831)CGT>CTT		spectrin, alpha, erythrocytic 1							115.0	116.0	115.0					1																	158617395		1976	4147	6123	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158617395C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3830G>T	1.37:g.158617395C>A	ENSP00000357129:p.Arg1277Leu						p.R1277L	NM_003126	NP_003117	P02549	SPTA1_HUMAN			27	4029	-	all_hematologic(112;0.0378)		1277			Spectrin 12.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.3830G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	2.819	-0.245326	0.05906	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.40476	1.03;1.03	4.43	-5.2	0.02823	.	.	.	.	.	T	0.05777	0.0151	N	0.05534	-0.03	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.33929	-0.9849	9	0.26408	T	0.33	.	6.0835	0.19954	0.5503:0.2286:0.0:0.221	.	1277	P02549	SPTA1_HUMAN	L	1277	ENSP00000357130:R1277L;ENSP00000357129:R1277L	ENSP00000357129:R1277L	R	-	2	0	SPTA1	156884019	0.001000	0.12720	0.000000	0.03702	0.013000	0.08279	0.152000	0.16302	-1.269000	0.02436	0.563000	0.77884	CGT		0.557	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		34	176	1	0	1.45844e-13	0.002836	2.10663e-13	34	176				
OR6K2	81448	broad.mit.edu	37	1	158669653	158669653	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:158669653A>G	ENST00000359610.2	-	1	833	c.790T>C	c.(790-792)Tct>Cct	p.S264P		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S264P(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TAGGTGGCAGAGAAGCGTAGG	0.478																																							uc001fsu.1		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(790-792)TCT>CCT		olfactory receptor, family 6, subfamily K,							104.0	99.0	101.0					1																	158669653		2203	4300	6503	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669653A>G	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.790T>C	1.37:g.158669653A>G	ENSP00000352626:p.Ser264Pro						p.S264P	NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN			1	790	-	all_hematologic(112;0.0378)		264			Extracellular (Potential).		B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.790T>C	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	A	16.22	3.062758	0.55432	.	.	ENSG00000196171	ENST00000359610	T	0.00107	8.72	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40554	N	0.001070	T	0.00144	0.0004	L	0.59912	1.85	0.26716	N	0.970874	D	0.76494	0.999	D	0.78314	0.991	T	0.15122	-1.0448	10	0.42905	T	0.14	-11.4415	4.3209	0.11016	0.7332:0.0:0.0908:0.1759	.	264	Q8NGY2	OR6K2_HUMAN	P	264	ENSP00000352626:S264P	ENSP00000352626:S264P	S	-	1	0	OR6K2	156936277	0.000000	0.05858	1.000000	0.80357	0.984000	0.73092	0.500000	0.22562	2.053000	0.61076	0.533000	0.62120	TCT		0.478	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		33	43	0	0	0	0.010818	0	33	43				
OR6K3	391114	broad.mit.edu	37	1	158687606	158687606	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:158687606C>A	ENST00000368146.1	-	1	347	c.348G>T	c.(346-348)caG>caT	p.Q116H	OR6K3_ENST00000368145.1_Missense_Mutation_p.Q100H			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q116H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AGAAATACATCTGCAAGATGC	0.483																																							uc010pip.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(346-348)CAG>CAT		olfactory receptor, family 6, subfamily K,							132.0	136.0	134.0					1																	158687606		2203	4300	6503	SO:0001583	missense	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158687606C>A	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.348G>T	1.37:g.158687606C>A	ENSP00000357128:p.Gln116His						p.Q116H	NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN			1	348	-	all_hematologic(112;0.0378)		116			Helical; Name=3; (Potential).		Q5VUV0|Q6IFR5	Missense_Mutation	SNP	ENST00000368146.1	37	c.348G>T		.	.	.	.	.	.	.	.	.	.	C	12.49	1.954244	0.34471	.	.	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.00472	7.19;7.19	4.03	-0.304	0.12788	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00906	0.0030	H	0.96015	3.755	0.32276	N	0.568234	D	0.89917	1.0	D	0.91635	0.999	T	0.18085	-1.0348	9	0.87932	D	0	.	7.8877	0.29659	0.0:0.5937:0.0:0.4063	.	116	Q8NGY3	OR6K3_HUMAN	H	100;116	ENSP00000357127:Q100H;ENSP00000357128:Q116H	ENSP00000357127:Q100H	Q	-	3	2	OR6K3	156954230	0.005000	0.15991	0.941000	0.38009	0.143000	0.21401	0.135000	0.15952	-0.158000	0.11040	-0.490000	0.04691	CAG		0.483	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				39	260	1	0	1.69901e-12	0.005524	2.39705e-12	39	260				
CFAP45	25790	broad.mit.edu	37	1	159857673	159857673	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:159857673C>A	ENST00000368099.4	-	5	610	c.546G>T	c.(544-546)aaG>aaT	p.K182N	CCDC19_ENST00000426543.2_Missense_Mutation_p.K97N|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2												p.K182N(2)		endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CCATCCGCAGCTTGTTGGCTC	0.582																																							uc001fui.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(544-546)AAG>AAT		nasopharyngeal epithelium specific protein 1							227.0	203.0	211.0					1																	159857673		2203	4300	6503	SO:0001583	missense	25790					mitochondrion|soluble fraction		g.chr1:159857673C>A																												ENST00000368099.4:c.546G>T	1.37:g.159857673C>A	ENSP00000357079:p.Lys182Asn					CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.K97N|CCDC19_uc001ful.2_Missense_Mutation_p.K97N|CCDC19_uc009wtc.1_Missense_Mutation_p.K182N	p.K182N	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		5	564	-	all_hematologic(112;0.0597)		182			Potential.			Missense_Mutation	SNP	ENST00000368099.4	37	c.546G>T	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	C	7.567	0.665898	0.14710	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.43294	0.95;0.96	4.94	-3.75	0.04372	.	1.362360	0.04493	N	0.379900	T	0.06416	0.0165	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15122	-1.0448	9	.	.	.	-2.5303	1.0825	0.01646	0.2104:0.2655:0.306:0.2181	.	182;182	A8K884;Q9UL16	.;CCD19_HUMAN	N	182;97	ENSP00000357079:K182N;ENSP00000403044:K97N	.	K	-	3	2	CCDC19	158124297	0.000000	0.05858	0.174000	0.22961	0.905000	0.53344	-0.714000	0.05002	-0.371000	0.08004	-0.310000	0.09108	AAG		0.582	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			56	350	1	0	2.12129e-23	0.00361	3.50976e-23	56	350				
USP21	27005	broad.mit.edu	37	1	161130698	161130698	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:161130698C>T	ENST00000289865.8	+	2	489	c.268C>T	c.(268-270)Ctg>Ttg	p.L90L	USP21_ENST00000368002.3_Silent_p.L90L|USP21_ENST00000368001.1_Silent_p.L90L|RP11-297K8.2_ENST00000420498.1_RNA	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	90					histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.L90L(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TGGGGTTCCCCTGCCTGGCTC	0.622																																							uc010pke.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|lung(1)|prostate(1)|breast(1)	5						c.(268-270)CTG>TTG		ubiquitin-specific protease 21							69.0	65.0	66.0					1																	161130698		2203	4300	6503	SO:0001819	synonymous_variant	27005				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:161130698C>T	AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.268C>T	1.37:g.161130698C>T						USP21_uc010pkc.1_Silent_p.L90L|USP21_uc010pkd.1_Silent_p.L90L|USP21_uc010pkf.1_Silent_p.L90L	p.L90L	NM_001014443	NP_001014443	Q9UK80	UBP21_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		3	645	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		90					Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Silent	SNP	ENST00000289865.8	37	c.268C>T	CCDS30920.1																																																																																				0.622	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1			13	89	0	0	0	0.001368	0	13	89				
HSPA6	3310	broad.mit.edu	37	1	161496061	161496061	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:161496061T>A	ENST00000309758.4	+	1	2026	c.1613T>A	c.(1612-1614)gTg>gAg	p.V538E	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	538					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)	p.V538E(2)		endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGGGACAGAGTGGCTGCCAAA	0.547																																							uc001gap.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1612-1614)GTG>GAG		heat shock 70kDa protein 6 (HSP70B')							38.0	35.0	36.0					1																	161496061		2203	4300	6503	SO:0001583	missense	3310				response to unfolded protein		ATP binding	g.chr1:161496061T>A		CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"""Heat shock proteins / HSP70"""	5239	protein-coding gene	gene with protein product		140555	"""heat shock 70kD protein 6 (HSP70B')"""			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.1613T>A	1.37:g.161496061T>A	ENSP00000310219:p.Val538Glu					HSPA6_uc001gaq.2_Missense_Mutation_p.V538E	p.V538E	NM_002155	NP_002146	P17066	HSP76_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		2	2273	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		538					Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	ENST00000309758.4	37	c.1613T>A	CCDS1231.1	.	.	.	.	.	.	.	.	.	.	.	14.93	2.682781	0.47991	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.01068	5.38	3.45	3.45	0.39498	.	0.000000	0.32719	U	0.005739	T	0.03608	0.0103	H	0.96048	3.76	0.29151	N	0.878372	P	0.40731	0.728	P	0.52823	0.71	T	0.02208	-1.1195	10	0.87932	D	0	.	9.9058	0.41375	0.0:0.0:0.0:1.0	.	538	P17066	HSP76_HUMAN	E	538;514	ENSP00000310219:V538E	ENSP00000310219:V538E	V	+	2	0	HSPA6	159762685	0.985000	0.35326	0.784000	0.31847	0.441000	0.31987	5.188000	0.65093	1.407000	0.46875	0.482000	0.46254	GTG		0.547	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	NM_002155		9	30	0	0	0	0.008291	0	9	30				
MYOC	4653	broad.mit.edu	37	1	171605172	171605172	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:171605172G>A	ENST00000037502.6	-	3	1479	c.1408C>T	c.(1408-1410)Cgc>Tgc	p.R470C		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	470	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.		R -> C (in GLC1A). {ECO:0000269|PubMed:12442283}.|R -> H. {ECO:0000269|PubMed:10980537}.		bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)	p.R470C(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TACTTATAGCGGTTCTTGAAT	0.488																																							uc001ghu.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)	1	GRCh37	CM981351	MYOC	M		c.(1408-1410)CGC>TGC		myocilin precursor							208.0	182.0	191.0					1																	171605172		2203	4300	6503	SO:0001583	missense	4653				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	g.chr1:171605172G>A	BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.1408C>T	1.37:g.171605172G>A	ENSP00000037502:p.Arg470Cys					MYOC_uc010pmk.1_Missense_Mutation_p.R412C	p.R470C	NM_000261	NP_000252	Q99972	MYOC_HUMAN			3	1430	-	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		470		R -> C (in GLC1A).|R -> H.	Olfactomedin-like.		B2RD84|O00620|Q7Z6Q9	Missense_Mutation	SNP	ENST00000037502.6	37	c.1408C>T	CCDS1297.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457764	0.63401	.	.	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000536591	D	0.89939	-2.59	5.08	3.2	0.36748	Olfactomedin-like (3);	0.440976	0.27437	N	0.019369	D	0.91362	0.7275	M	0.83603	2.65	0.53688	D	0.999975	D;D	0.89917	0.999;1.0	P;D	0.63192	0.88;0.912	D	0.91482	0.5205	10	0.87932	D	0	.	10.3832	0.44123	0.1617:0.0:0.8383:0.0	.	412;470	B4DV44;Q99972	.;MYOC_HUMAN	C	470;423;403	ENSP00000037502:R470C	ENSP00000037502:R470C	R	-	1	0	MYOC	169871795	0.998000	0.40836	0.955000	0.39395	0.994000	0.84299	2.512000	0.45485	0.644000	0.30656	0.484000	0.47621	CGC		0.488	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2	NM_000261		25	168	0	0	0	0.003954	0	25	168				
RASAL2	9462	broad.mit.edu	37	1	178252788	178252789	+	Missense_Mutation	DNP	AC	AC	TT			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	AC	AC	-	-	AC	AC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:178252788_178252789AC>TT	ENST00000367649.3	+	2	644_645	c.292_293AC>TT	c.(292-294)ACa>TTa	p.T98L	RASAL2_ENST00000448150.3_Missense_Mutation_p.T80L|RASAL2_ENST00000465723.1_3'UTR			Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)	p.T80L(2)|p.T98L(2)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TTGCATCCTCACAGACAGCCAG	0.46																																							uc001glq.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)|breast(2)|large_intestine(1)	5						c.(292-294)ACA>TTA		RAS protein activator like 2 isoform 2																																				SO:0001583	missense	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178252788_178252789AC>TT	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	Exception_encountered	1.37:g.178252788_178252789delinsTT	ENSP00000356621:p.Thr98Leu					RASAL2_uc009wxb.2_Missense_Mutation_p.T98L	p.T98L	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN			2	1056_1057	+			Error:Variant_position_missing_in_Q9UJF2_after_alignment					F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	DNP	ENST00000367649.3	37	c.292_293AC>TT	CCDS1321.2																																																																																				0.460	RASAL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352415.1	NM_170692		22	200	0	0	0	0.004672	0	22	200				
LAMC1	3915	broad.mit.edu	37	1	183091312	183091312	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:183091312C>A	ENST00000258341.4	+	13	2584	c.2327C>A	c.(2326-2328)cCt>cAt	p.P776H		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	776	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.P776H(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						TGTCCGTGTCCTGGAGGTTCA	0.537																																							uc001gpy.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(1)|kidney(1)	5						c.(2326-2328)CCT>CAT		laminin, gamma 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						195.0	177.0	183.0					1																	183091312		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183091312C>A	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.2327C>A	1.37:g.183091312C>A	ENSP00000258341:p.Pro776His						p.P776H	NM_002293	NP_002284	P11047	LAMC1_HUMAN			13	2584	+			776			Laminin EGF-like 7.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.2327C>A	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.994959	0.74703	.	.	ENSG00000135862	ENST00000258341	T	0.61158	0.13	5.34	4.4	0.53042	EGF-like, laminin (3);	0.050323	0.85682	D	0.000000	T	0.77110	0.4082	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81230	-0.1027	10	0.87932	D	0	.	15.6637	0.77209	0.0:0.8621:0.1379:0.0	.	776	P11047	LAMC1_HUMAN	H	776	ENSP00000258341:P776H	ENSP00000258341:P776H	P	+	2	0	LAMC1	181357935	1.000000	0.71417	0.834000	0.33040	0.760000	0.43138	7.224000	0.78042	1.192000	0.43071	0.655000	0.94253	CCT		0.537	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		27	151	1	0	1.42536e-11	0.004656	1.94561e-11	27	151				
CFH	3075	broad.mit.edu	37	1	196683021	196683021	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:196683021G>A	ENST00000367429.4	+	10	1733	c.1493G>A	c.(1492-1494)gGa>gAa	p.G498E		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	498	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.G498E(2)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGGAAAGATGGATGGTCAGCT	0.333																																							uc001gtj.3		NA																	2	Substitution - Missense(2)		lung(2)	skin(4)|ovary(1)|breast(1)	6						c.(1492-1494)GGA>GAA		complement factor H isoform a precursor							93.0	88.0	90.0					1																	196683021		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196683021G>A	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1493G>A	1.37:g.196683021G>A	ENSP00000356399:p.Gly498Glu						p.G498E	NM_000186	NP_000177	P08603	CFAH_HUMAN			10	1733	+			498			Sushi 8.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.1493G>A	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101298	0.37048	.	.	ENSG00000000971	ENST00000367429	D	0.82344	-1.6	5.23	4.32	0.51571	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.91948	0.7450	H	0.95043	3.615	0.80722	D	1	D	0.65815	0.995	D	0.65573	0.936	D	0.91217	0.5003	9	0.31617	T	0.26	.	9.7628	0.40543	0.0959:0.0:0.9041:0.0	.	498	P08603	CFAH_HUMAN	E	498	ENSP00000356399:G498E	ENSP00000356399:G498E	G	+	2	0	CFH	194949644	1.000000	0.71417	0.867000	0.34043	0.027000	0.11550	4.372000	0.59530	1.211000	0.43351	-0.229000	0.12294	GGA		0.333	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		12	83	0	0	0	0.001368	0	12	83				
F13B	2165	broad.mit.edu	37	1	197024971	197024971	+	Missense_Mutation	SNP	C	C	A	rs144134146	byFrequency	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:197024971C>A	ENST00000367412.1	-	8	1271	c.1228G>T	c.(1228-1230)Ggg>Tgg	p.G410W		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	410	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)		p.G410W(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GCCAATATCCCGTCTGCAACA	0.363																																							uc001gtt.1		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1228-1230)GGG>TGG		coagulation factor XIII B subunit precursor							82.0	77.0	78.0					1																	197024971		2203	4300	6503	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197024971C>A	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1228G>T	1.37:g.197024971C>A	ENSP00000356382:p.Gly410Trp						p.G410W	NM_001994	NP_001985	P05160	F13B_HUMAN			8	1272	-			410			Sushi 7.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.1228G>T	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133490	0.37630	.	.	ENSG00000143278	ENST00000367412	T	0.65178	-0.14	6.07	3.17	0.36434	Complement control module (2);Sushi/SCR/CCP (3);	0.956300	0.08482	N	0.939339	T	0.78387	0.4275	M	0.85197	2.74	0.09310	N	1	D	0.71674	0.998	D	0.71870	0.975	T	0.58934	-0.7548	10	0.66056	D	0.02	.	5.3065	0.15807	0.29:0.5614:0.0:0.1486	.	410	P05160	F13B_HUMAN	W	410	ENSP00000356382:G410W	ENSP00000356382:G410W	G	-	1	0	F13B	195291594	0.023000	0.18921	0.000000	0.03702	0.001000	0.01503	2.669000	0.46825	0.427000	0.26145	-0.181000	0.13052	GGG		0.363	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		44	61	1	0	4.01344e-20	0.00361	6.38874e-20	44	61				
CRB1	23418	broad.mit.edu	37	1	197396952	197396952	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:197396952G>T	ENST00000367400.3	+	7	2632	c.2497G>T	c.(2497-2499)Ggt>Tgt	p.G833C	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367397.1_Missense_Mutation_p.G214C|CRB1_ENST00000367399.2_Missense_Mutation_p.G721C|CRB1_ENST00000535699.1_Missense_Mutation_p.G764C|CRB1_ENST00000544212.1_Missense_Mutation_p.G314C	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	833	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G833C(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CATCTACATTGGTGGCCTACC	0.378																																							uc001gtz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(3)|large_intestine(1)	9						c.(2497-2499)GGT>TGT		crumbs homolog 1 precursor							91.0	88.0	89.0					1																	197396952		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197396952G>T		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2497G>T	1.37:g.197396952G>T	ENSP00000356370:p.Gly833Cys					CRB1_uc010poz.1_Missense_Mutation_p.G764C|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.G721C|CRB1_uc010ppb.1_Intron|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Missense_Mutation_p.G314C|CRB1_uc001gub.1_Missense_Mutation_p.G482C	p.G833C	NM_201253	NP_957705	P82279	CRUM1_HUMAN			7	2632	+			833			Extracellular (Potential).|Laminin G-like 2.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.2497G>T	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.400414	0.42613	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D;D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99;-4.99	4.86	3.91	0.45181	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.98921	0.9634	M	0.89095	3.005	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.982;0.971;0.996;0.985	D	0.99474	1.0946	9	0.87932	D	0	.	12.1456	0.54022	0.0872:0.0:0.9128:0.0	.	764;721;482;833	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	C	764;833;721;314;214;482	ENSP00000438786:G764C;ENSP00000356370:G833C;ENSP00000356369:G721C;ENSP00000444556:G314C;ENSP00000356367:G214C	ENSP00000356367:G214C	G	+	1	0	CRB1	195663575	1.000000	0.71417	0.325000	0.25375	0.026000	0.11368	4.926000	0.63433	0.962000	0.38057	0.650000	0.86243	GGT		0.378	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		27	40	1	0	2.50493e-22	0.004656	4.08266e-22	27	40				
LHX9	56956	broad.mit.edu	37	1	197890725	197890725	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:197890725G>T	ENST00000367387.4	+	3	1094	c.669G>T	c.(667-669)caG>caT	p.Q223H	LHX9_ENST00000367390.3_Missense_Mutation_p.Q214H|LHX9_ENST00000337020.2_Missense_Mutation_p.Q223H|LHX9_ENST00000367391.1_Missense_Mutation_p.Q214H|LHX9_ENST00000561173.1_Missense_Mutation_p.Q229H	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	223					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.Q223H(2)|p.Q214H(2)		endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						GCACCGTGCAGAAAGGGCGGC	0.652																																							uc001guk.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(667-669)CAG>CAT		LIM homeobox 9 isoform 1							27.0	25.0	25.0					1																	197890725		2203	4300	6503	SO:0001583	missense	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197890725G>T	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.669G>T	1.37:g.197890725G>T	ENSP00000356357:p.Gln223His					LHX9_uc001gui.1_Missense_Mutation_p.Q214H|LHX9_uc001guj.1_Missense_Mutation_p.Q229H	p.Q223H	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN			3	1106	+			223					Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Missense_Mutation	SNP	ENST00000367387.4	37	c.669G>T	CCDS1393.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326526	0.60743	.	.	ENSG00000143355	ENST00000367391;ENST00000367390;ENST00000337020;ENST00000367387	T;D;T;D	0.89617	0.42;-2.53;0.32;-2.54	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.87305	0.6144	M	0.67953	2.075	0.80722	D	1	B;B;B	0.18741	0.017;0.03;0.03	B;B;B	0.21151	0.009;0.033;0.012	T	0.81944	-0.0701	10	0.35671	T	0.21	.	13.1248	0.59349	0.0721:0.0:0.9278:0.0	.	223;214;214	Q9NQ69;Q9NQ69-3;Q9NQ69-2	LHX9_HUMAN;.;.	H	214;214;223;223	ENSP00000356361:Q214H;ENSP00000356360:Q214H;ENSP00000337969:Q223H;ENSP00000356357:Q223H	ENSP00000337969:Q223H	Q	+	3	2	LHX9	196157348	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.465000	0.60141	2.941000	0.99782	0.655000	0.94253	CAG		0.652	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204		17	34	1	0	1.5739e-10	0.004007	2.10624e-10	17	34				
PTPRC	5788	broad.mit.edu	37	1	198703339	198703339	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:198703339C>G	ENST00000367376.2	+	21	2322	c.2151C>G	c.(2149-2151)ccC>ccG	p.P717P	PTPRC_ENST00000442510.2_Silent_p.P719P|PTPRC_ENST00000348564.6_Silent_p.P558P|PTPRC_ENST00000352140.3_Silent_p.P669P|PTPRC_ENST00000594404.1_Silent_p.P556P	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	717	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P717P(2)		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						TCAAAGAACCCAGGAAATACA	0.294																																							uc001gur.1		NA																	2	Substitution - coding silent(2)		lung(2)	breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(2149-2151)CCC>CCG		protein tyrosine phosphatase, receptor type, C							66.0	71.0	69.0					1																	198703339		2202	4298	6500	SO:0001819	synonymous_variant	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.chr1:198703339C>G	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.2151C>G	1.37:g.198703339C>G						PTPRC_uc001gus.1_Silent_p.P669P|PTPRC_uc001gut.1_Silent_p.P556P|PTPRC_uc010ppg.1_Silent_p.P653P	p.P717P	NM_002838	NP_002829	P08575	PTPRC_HUMAN			21	2331	+			717			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.		A8K7W6|Q16614|Q9H0Y6	Silent	SNP	ENST00000367376.2	37	c.2151C>G																																																																																					0.294	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				53	84	0	0	0	0.00361	0	53	84				
KIF21B	23046	broad.mit.edu	37	1	200978567	200978567	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:200978567T>A	ENST00000422435.2	-	2	407	c.91A>T	c.(91-93)Acc>Tcc	p.T31S	KIF21B_ENST00000332129.2_Missense_Mutation_p.T31S|KIF21B_ENST00000360529.5_Missense_Mutation_p.T31S|KIF21B_ENST00000461742.2_Missense_Mutation_p.T31S	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	31	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T31S(2)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GTAACAGAGGTACAGATGTGA	0.592																																							uc001gvs.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(3)	6						c.(91-93)ACC>TCC		kinesin family member 21B							91.0	91.0	91.0					1																	200978567		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200978567T>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.91A>T	1.37:g.200978567T>A	ENSP00000411831:p.Thr31Ser					KIF21B_uc001gvr.1_Missense_Mutation_p.T31S|KIF21B_uc009wzl.1_Missense_Mutation_p.T31S|KIF21B_uc010ppn.1_Missense_Mutation_p.T31S	p.T31S	NM_017596	NP_060066	O75037	KI21B_HUMAN			2	408	-			31			Kinesin-motor.		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.91A>T	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.635011	0.87760	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66	4.54	4.54	0.55810	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.77745	0.4176	L	0.41236	1.265	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.997;0.998	D;D;D;D	0.79108	0.992;0.992;0.989;0.987	T	0.80455	-0.1375	10	0.87932	D	0	.	14.0392	0.64665	0.0:0.0:0.0:1.0	.	31;31;31;31	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	S	31	ENSP00000328494:T31S;ENSP00000353724:T31S;ENSP00000433808:T31S;ENSP00000411831:T31S	ENSP00000328494:T31S	T	-	1	0	KIF21B	199245190	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.798000	0.85924	1.900000	0.55004	0.533000	0.62120	ACC		0.592	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		49	115	0	0	0	0.00361	0	49	115				
CHIT1	1118	broad.mit.edu	37	1	203192633	203192633	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:203192633G>T	ENST00000367229.1	-	5	504	c.470C>A	c.(469-471)aCc>aAc	p.T157N	CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Missense_Mutation_p.T148N|CHIT1_ENST00000255427.3_Missense_Mutation_p.T138N	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	157					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)	p.T157N(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CTGTACCAGGGTTGTGAAGCG	0.627																																							uc001gzn.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(469-471)ACC>AAC		chitotriosidase precursor							72.0	73.0	73.0					1																	203192633		2203	4300	6503	SO:0001583	missense	1118				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203192633G>T	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.470C>A	1.37:g.203192633G>T	ENSP00000356198:p.Thr157Asn					FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_5'Flank|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Missense_Mutation_p.T148N	p.T157N	NM_003465	NP_003456	Q13231	CHIT1_HUMAN			5	566	-			157					B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	37	c.470C>A	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	G	9.888	1.203458	0.22121	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.05513	3.43;3.43;3.43	4.83	-0.928	0.10448	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.556228	0.16279	N	0.221441	T	0.04227	0.0117	L	0.28344	0.845	0.09310	N	1	B;B	0.20780	0.048;0.029	B;B	0.26614	0.069;0.071	T	0.37911	-0.9685	10	0.39692	T	0.17	-8.3909	4.8179	0.13376	0.4107:0.0:0.4506:0.1387	.	148;157	G5EA51;Q13231	.;CHIT1_HUMAN	N	157;138;148	ENSP00000356198:T157N;ENSP00000255427:T138N;ENSP00000438078:T148N	ENSP00000255427:T138N	T	-	2	0	CHIT1	201459256	0.001000	0.12720	0.050000	0.19076	0.491000	0.33493	0.138000	0.16016	-0.362000	0.08113	0.655000	0.94253	ACC		0.627	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		18	94	1	0	9.86323e-18	0.003954	1.51699e-17	18	94				
LAX1	54900	broad.mit.edu	37	1	203743435	203743435	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:203743435G>T	ENST00000442561.2	+	5	1213	c.823G>T	c.(823-825)Gat>Tat	p.D275Y	LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Missense_Mutation_p.D259Y	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	275					antigen receptor-mediated signaling pathway (GO:0050851)|B cell activation (GO:0042113)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)	p.D275Y(2)		central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GACAGGGTTGGATCTCAGTGC	0.493																																							uc001haa.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)	2						c.(823-825)GAT>TAT		lymphocyte transmembrane adaptor 1 isoform a							68.0	68.0	68.0					1																	203743435		2203	4300	6503	SO:0001583	missense	54900				B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding	g.chr1:203743435G>T	AK000347	CCDS1441.2, CCDS44297.1	1q32.1	2008-02-05			ENSG00000122188	ENSG00000122188			26005	protein-coding gene	gene with protein product	"""LAT-like membrane associated protein"", ""linker for activation of x cells"""					12359715	Standard	NM_017773		Approved	LAX, FLJ20340	uc001haa.3	Q8IWV1	OTTHUMG00000035908	ENST00000442561.2:c.823G>T	1.37:g.203743435G>T	ENSP00000406970:p.Asp275Tyr					LAX1_uc010pql.1_Missense_Mutation_p.D259Y|LAX1_uc001hab.2_Missense_Mutation_p.D199Y	p.D275Y	NM_017773	NP_060243	Q8IWV1	LAX1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		5	1233	+	all_cancers(21;0.0915)		275			Cytoplasmic (Potential).		B7Z744|J3KP69|Q6NSZ6|Q9NXB4	Missense_Mutation	SNP	ENST00000442561.2	37	c.823G>T	CCDS1441.2	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863762	0.71949	.	.	ENSG00000122188	ENST00000442561;ENST00000367217	.	.	.	5.32	4.38	0.52667	.	0.224785	0.31156	N	0.008158	T	0.55433	0.1920	L	0.55481	1.735	0.24548	N	0.994033	D;D	0.89917	1.0;1.0	D;D	0.70016	0.967;0.967	T	0.48625	-0.9019	9	0.87932	D	0	-14.1215	9.4971	0.38995	0.1029:0.0:0.8971:0.0	.	259;275	B7Z744;Q8IWV1	.;LAX1_HUMAN	Y	275;259	.	ENSP00000356186:D259Y	D	+	1	0	LAX1	202010058	0.238000	0.23825	0.622000	0.29159	0.623000	0.37688	1.351000	0.34022	1.306000	0.44926	0.655000	0.94253	GAT		0.493	LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087468.3	NM_017773		20	100	1	0	6.33239e-15	0.010504	9.31936e-15	20	100				
TMEM81	388730	broad.mit.edu	37	1	205053311	205053311	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:205053311G>A	ENST00000367167.3	-	1	334	c.138C>T	c.(136-138)gcC>gcT	p.A46A		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	46						integral component of membrane (GO:0016021)		p.A46A(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TACAGGTTGTGGCATTGATGA	0.532																																							uc001hbt.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(136-138)GCC>GCT		transmembrane protein 81 precursor							158.0	128.0	138.0					1																	205053311		2203	4300	6503	SO:0001819	synonymous_variant	388730					integral to membrane		g.chr1:205053311G>A	BC061592	CCDS1450.1	1q32.1	2013-01-11			ENSG00000174529	ENSG00000174529		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32349	protein-coding gene	gene with protein product							Standard	NM_203376		Approved	UNQ2788, MGC75217, HC3107, KVLA2788	uc001hbt.3	Q6P7N7	OTTHUMG00000037103	ENST00000367167.3:c.138C>T	1.37:g.205053311G>A							p.A46A	NM_203376	NP_976310	Q6P7N7	TMM81_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		1	278	-	all_cancers(21;0.144)|Breast(84;0.0437)		46			Extracellular (Potential).		Q6UVZ4	Silent	SNP	ENST00000367167.3	37	c.138C>T	CCDS1450.1																																																																																				0.532	TMEM81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090076.1	NM_203376		20	104	0	0	0	0.008871	0	20	104				
USH2A	7399	broad.mit.edu	37	1	216369952	216369952	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:216369952G>T	ENST00000307340.3	-	19	4580	c.4194C>A	c.(4192-4194)gaC>gaA	p.D1398E	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Missense_Mutation_p.D1398E|USH2A_ENST00000366943.2_Missense_Mutation_p.D1398E	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1398	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.D1398E(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCATATTGATGTCATACCCCA	0.413										HNSCC(13;0.011)																													uc001hku.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(4192-4194)GAC>GAA		usherin isoform B							205.0	186.0	193.0					1																	216369952		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216369952G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4194C>A	1.37:g.216369952G>T	ENSP00000305941:p.Asp1398Glu	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.D1398E	p.D1398E	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	19	4581	-			1398			Extracellular (Potential).|Fibronectin type-III 4.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.4194C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	3.534	-0.095021	0.07010	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.54071	0.59;0.59;0.59	5.96	-9.43	0.00607	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.028430	0.07767	N	0.951074	T	0.17109	0.0411	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.0;0.004	T	0.11494	-1.0585	10	0.19590	T	0.45	.	1.0058	0.01487	0.3411:0.2377:0.2524:0.1687	.	1398;1398	O75445-2;O75445	.;USH2A_HUMAN	E	1398	ENSP00000305941:D1398E;ENSP00000355910:D1398E;ENSP00000355909:D1398E	ENSP00000305941:D1398E	D	-	3	2	USH2A	214436575	0.000000	0.05858	0.000000	0.03702	0.887000	0.51463	-0.140000	0.10342	-1.397000	0.02068	0.655000	0.94253	GAC		0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		52	93	1	0	2.01807e-28	0.00361	3.55441e-28	52	93				
RYR2	6262	broad.mit.edu	37	1	237540714	237540714	+	Missense_Mutation	SNP	C	C	G	rs369484232		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:237540714C>G	ENST00000366574.2	+	8	872	c.555C>G	c.(553-555)agC>agG	p.S185R	RYR2_ENST00000542537.1_Missense_Mutation_p.S169R|RYR2_ENST00000360064.6_Missense_Mutation_p.S183R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	185	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.				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)	p.S183R(2)		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)			TCTTAGTTAGCGTGTCCTCTG	0.423																																							uc001hyl.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(553-555)AGC>AGG		cardiac muscle ryanodine receptor							126.0	124.0	124.0					1																	237540714		1975	4154	6129	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.chr1:237540714C>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.555C>G	1.37:g.237540714C>G	ENSP00000355533:p.Ser185Arg						p.S185R	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		8	675	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	185			Cytoplasmic (By similarity).|MIR 2.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.555C>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.906229	0.72868	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.91295	-2.82;-2.82;-2.82	5.17	-6.51	0.01878	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR motif (2);	0.000000	0.85682	D	0.000000	D	0.93423	0.7902	M	0.84326	2.69	0.80722	D	1	D	0.76494	0.999	D	0.67548	0.952	D	0.92807	0.6261	10	0.87932	D	0	.	14.3466	0.66668	0.0:0.5619:0.0:0.4381	.	185	Q92736	RYR2_HUMAN	R	185;183;169	ENSP00000355533:S185R;ENSP00000353174:S183R;ENSP00000443798:S169R	ENSP00000353174:S183R	S	+	3	2	RYR2	235607337	0.000000	0.05858	0.607000	0.28956	0.971000	0.66376	-2.472000	0.00989	-1.252000	0.02491	-1.031000	0.02408	AGC		0.423	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		21	46	0	0	0	0.001882	0	21	46				
OR13G1	441933	broad.mit.edu	37	1	247835561	247835561	+	Silent	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:247835561G>C	ENST00000359688.2	-	1	804	c.783C>G	c.(781-783)tcC>tcG	p.S261S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S261S(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATGTATAGCTGGAAGCAGGGC	0.463																																							uc001idi.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(781-783)TCC>TCG		olfactory receptor, family 13, subfamily G,							132.0	122.0	125.0					1																	247835561		2203	4300	6503	SO:0001819	synonymous_variant	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247835561G>C	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.783C>G	1.37:g.247835561G>C							p.S261S	NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	783	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		261			Extracellular (Potential).		B2RN80|Q5T2T2|Q6IF86	Silent	SNP	ENST00000359688.2	37	c.783C>G	CCDS31094.1																																																																																				0.463	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		60	96	0	0	0	0.00361	0	60	96				
OR2M2	391194	broad.mit.edu	37	1	248343333	248343333	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:248343333G>T	ENST00000359682.2	+	1	46	c.46G>T	c.(46-48)Gga>Tga	p.G16*		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G16*(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CATCCTCCTTGGAATCTTCAA	0.438																																							uc010pzf.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(3)|skin(1)	4						c.(46-48)GGA>TGA		olfactory receptor, family 2, subfamily M,							231.0	227.0	228.0					1																	248343333		2203	4300	6503	SO:0001587	stop_gained	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343333G>T	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.46G>T	1.37:g.248343333G>T	ENSP00000352710:p.Gly16*						p.G16*	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	46	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		16			Extracellular (Potential).		A3KFT4	Nonsense_Mutation	SNP	ENST00000359682.2	37	c.46G>T	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	g	16.02	3.005202	0.54254	.	.	ENSG00000198601	ENST00000359682	.	.	.	1.44	1.44	0.22558	.	0.000000	0.30547	U	0.009397	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.6934	0.45884	0.0:0.0:1.0:0.0	.	.	.	.	X	16	.	ENSP00000352710:G16X	G	+	1	0	OR2M2	246409956	0.990000	0.36364	0.025000	0.17156	0.278000	0.26855	5.535000	0.67173	0.780000	0.33566	0.298000	0.19748	GGA		0.438	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		58	309	1	0	6.83704e-37	0.00361	1.30525e-36	58	309				
OR2T27	403239	broad.mit.edu	37	1	248813304	248813304	+	Missense_Mutation	SNP	G	G	T	rs373080130		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:248813304G>T	ENST00000344889.3	-	1	881	c.882C>A	c.(880-882)aaC>aaA	p.N294K		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	294						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N294K(2)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGACATCCTTGTTCCTAAGGC	0.478																																							uc010pzo.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(880-882)AAC>AAA		olfactory receptor, family 2, subfamily T,							74.0	76.0	75.0					1																	248813304		2175	4269	6444	SO:0001583	missense	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248813304G>T		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.882C>A	1.37:g.248813304G>T	ENSP00000342008:p.Asn294Lys						p.N294K	NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	882	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	294			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000344889.3	37	c.882C>A	CCDS31124.1	.	.	.	.	.	.	.	.	.	.	.	7.079	0.569845	0.13560	.	.	ENSG00000187701	ENST00000344889	T	0.50001	0.76	3.3	3.3	0.37823	.	0.000000	0.42964	D	0.000638	T	0.71204	0.3312	H	0.99225	4.475	0.25155	N	0.990392	B	0.31817	0.341	B	0.43360	0.417	T	0.69705	-0.5073	10	0.87932	D	0	.	8.0199	0.30404	0.1205:0.0:0.8795:0.0	.	294	Q8NH04	O2T27_HUMAN	K	294	ENSP00000342008:N294K	ENSP00000342008:N294K	N	-	3	2	OR2T27	246879927	0.827000	0.29292	0.987000	0.45799	0.123000	0.20343	0.190000	0.17057	1.829000	0.53265	0.407000	0.27541	AAC		0.478	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		27	66	1	0	3.1745e-13	0.008361	4.54928e-13	27	66				
AKR1E2	83592	broad.mit.edu	37	10	4875556	4875556	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:4875556C>A	ENST00000298375.7	+	3	293	c.222C>A	c.(220-222)tgC>tgA	p.C74*	AKR1E2_ENST00000532248.1_Nonsense_Mutation_p.C74*|AKR1E2_ENST00000345253.5_Nonsense_Mutation_p.C74*|AKR1E2_ENST00000334019.4_Nonsense_Mutation_p.C74*|AKR1E2_ENST00000525281.1_Intron	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	74						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	1,5-anhydro-D-fructose reductase activity (GO:0050571)	p.C74*(2)		NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						GGTGCACCTGCCATAAGAAGT	0.532																																					NSCLC(43;343 1097 20371 28813 45509)	NSCLC(43;343 1097 20371 28813 45509)	uc001ihi.2		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(220-222)TGC>TGA		aldo-keto reductase family 1, member E2							197.0	170.0	179.0					10																	4875556		2203	4300	6503	SO:0001587	stop_gained	83592					cytoplasm	1,5-anhydro-D-fructose reductase activity	g.chr10:4875556C>A	AB040820	CCDS31134.1, CCDS59210.1, CCDS59209.1	10p15.2	2009-09-09	2009-09-09	2009-09-09	ENSG00000165568	ENSG00000165568		"""Aldo-keto reductases"""	23437	protein-coding gene	gene with protein product			"""aldo-keto reductase family 1, member C-like 2"""	AKRDC1, AKR1CL2			Standard	NM_001271021		Approved	MGC10612	uc001ihi.4	Q96JD6	OTTHUMG00000017577	ENST00000298375.7:c.222C>A	10.37:g.4875556C>A	ENSP00000298375:p.Cys74*					AKR1E2_uc001ihl.1_RNA|AKR1E2_uc010qam.1_Intron|AKR1E2_uc001ihh.1_Nonsense_Mutation_p.C74*|AKR1E2_uc009xhw.2_Nonsense_Mutation_p.C74*|AKR1E2_uc001ihj.2_RNA|AKR1E2_uc001ihk.2_Nonsense_Mutation_p.C74*	p.C74*	NM_001040177	NP_001035267	Q96JD6	AKCL2_HUMAN			3	337	+			74					Q86Z16|Q86Z17|Q86Z18|Q9BU71	Nonsense_Mutation	SNP	ENST00000298375.7	37	c.222C>A	CCDS31134.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955230	0.53293	.	.	ENSG00000165568	ENST00000533295;ENST00000298375;ENST00000532248;ENST00000334019;ENST00000345253	.	.	.	3.48	0.551	0.17225	.	0.535945	0.20063	N	0.100027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	3.7682	0.08630	0.1673:0.5723:0.1625:0.098	.	.	.	.	X	78;74;74;74;74	.	ENSP00000298375:C74X	C	+	3	2	AKR1E2	4865556	0.092000	0.21681	0.016000	0.15963	0.101000	0.19017	0.193000	0.17116	0.124000	0.18369	-1.147000	0.01851	TGC		0.532	AKR1E2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046520.4	NM_031436		32	139	1	0	1.7881e-09	0.008361	2.29718e-09	32	139				
AKR1C3	8644	broad.mit.edu	37	10	5141584	5141584	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:5141584G>T	ENST00000380554.3	+	5	1165	c.513G>T	c.(511-513)agG>agT	p.R171S	AKR1C3_ENST00000439082.2_Missense_Mutation_p.R52S|AKR1C3_ENST00000605149.1_Missense_Mutation_p.R148S	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	171					arachidonic acid metabolic process (GO:0019369)|cellular response to cadmium ion (GO:0071276)|cellular response to calcium ion (GO:0071277)|cellular response to corticosteroid stimulus (GO:0071384)|cellular response to jasmonic acid stimulus (GO:0071395)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to reactive oxygen species (GO:0034614)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|G-protein coupled receptor signaling pathway (GO:0007186)|keratinocyte differentiation (GO:0030216)|male gonad development (GO:0008584)|multicellular organismal macromolecule metabolic process (GO:0044259)|negative regulation of retinoic acid biosynthetic process (GO:1900053)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|protein import into nucleus, translocation (GO:0000060)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of testosterone biosynthetic process (GO:2000224)|renal absorption (GO:0070293)|response to nutrient (GO:0007584)|response to prostaglandin (GO:0034694)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity (GO:0047020)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|dihydrotestosterone 17-beta-dehydrogenase activity (GO:0035410)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|ketoreductase activity (GO:0045703)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin D2 11-ketoreductase activity (GO:0036131)|prostaglandin F receptor activity (GO:0004958)|prostaglandin-F synthase activity (GO:0047017)|retinal dehydrogenase activity (GO:0001758)|retinol dehydrogenase activity (GO:0004745)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)|testosterone dehydrogenase (NAD+) activity (GO:0047035)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)	p.R171S(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Bimatoprost(DB00905)|Doxorubicin(DB00997)	TCAACCGCAGGCAGCTGGAGA	0.527																																							uc001ihr.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(511-513)AGG>AGT		aldo-keto reductase family 1, member C3	Dimethyl sulfoxide(DB01093)|NADH(DB00157)						157.0	136.0	143.0					10																	5141584		2203	4300	6503	SO:0001583	missense	8644				prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	g.chr10:5141584G>T	L43839	CCDS7063.1, CCDS73062.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000196139	ENSG00000196139	1.1.1.213, 1.1.1.188	"""Aldo-keto reductases"""	386	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase X"", ""prostaglandin F synthase"", ""3-alpha hydroxysteroid dehydrogenase, type II"""	603966	"""hydroxysteroid (17-beta) dehydrogenase 5"", ""aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)"""	HSD17B5		7650035, 9792917	Standard	NM_003739		Approved	KIAA0119, DDX, HAKRB, PGFS	uc021pml.1	P42330	OTTHUMG00000017585	ENST00000380554.3:c.513G>T	10.37:g.5141584G>T	ENSP00000369927:p.Arg171Ser					AKR1C3_uc010qap.1_Missense_Mutation_p.R148S|AKR1C3_uc001ihu.2_Missense_Mutation_p.R171S	p.R171S	NM_003739	NP_003730	P42330	AK1C3_HUMAN			5	696	+			171					A8K2V0|B4DL37|Q5T2L1|Q96DJ1|Q96KI8|Q99530|Q9UCX1|Q9UII3|Q9UKL9	Missense_Mutation	SNP	ENST00000380554.3	37	c.513G>T	CCDS7063.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671149	0.47781	.	.	ENSG00000196139	ENST00000439082;ENST00000380554	T;T	0.23348	1.91;1.91	2.67	1.72	0.24424	NADP-dependent oxidoreductase domain (3);	0.347895	0.26514	N	0.023950	T	0.22627	0.0546	N	0.17723	0.515	0.33270	D	0.560858	B;P;P	0.48503	0.14;0.911;0.911	B;P;P	0.55713	0.095;0.708;0.782	T	0.23833	-1.0177	10	0.59425	D	0.04	.	4.2156	0.10533	0.3329:0.0:0.6671:0.0	.	52;171;171	B4DL37;P42330;Q2XPP3	.;AK1C3_HUMAN;.	S	52;171	ENSP00000401327:R52S;ENSP00000369927:R171S	ENSP00000369927:R171S	R	+	3	2	AKR1C3	5131584	0.998000	0.40836	0.990000	0.47175	0.763000	0.43281	0.264000	0.18497	1.202000	0.43218	0.491000	0.48974	AGG		0.527	AKR1C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046533.2	NM_003739		29	74	1	0	7.38237e-10	0.00632	9.57428e-10	29	74				
FRMD4A	55691	broad.mit.edu	37	10	13782541	13782541	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:13782541G>A	ENST00000357447.2	-	10	953	c.585C>T	c.(583-585)aaC>aaT	p.N195N	FRMD4A_ENST00000378503.1_Silent_p.N195N|FRMD4A_ENST00000358621.4_Silent_p.N180N|RP11-353M9.1_ENST00000449462.1_RNA|FRMD4A_ENST00000342409.2_Silent_p.N211N	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	195	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)		p.N195N(2)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TTGTCTGACCGTTCAGTTTCT	0.443																																							uc001ims.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)|pancreas(1)	3						c.(583-585)AAC>AAT		FERM domain containing 4A							282.0	223.0	243.0					10																	13782541		2203	4300	6503	SO:0001819	synonymous_variant	55691					cytoplasm|cytoskeleton	binding	g.chr10:13782541G>A	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.585C>T	10.37:g.13782541G>A						FRMD4A_uc009xjf.1_Silent_p.N195N|FRMD4A_uc001imt.1_Silent_p.N228N|FRMD4A_uc001imu.1_Silent_p.N211N	p.N195N	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN			10	937	-			195			FERM.		A7E2Y3|Q5T377	Silent	SNP	ENST00000357447.2	37	c.585C>T	CCDS7101.1																																																																																				0.443	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		45	101	0	0	0	0.00361	0	45	101				
MTPAP	55149	broad.mit.edu	37	10	30629219	30629219	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:30629219C>A	ENST00000263063.4	-	3	534	c.491G>T	c.(490-492)cGg>cTg	p.R164L	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000358107.4_Missense_Mutation_p.R294L	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	164					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)	p.R294L(2)|p.R164L(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ATTACTTGACCGTACGCGTGA	0.403																																							uc001iva.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(490-492)CGG>CTG		PAP associated domain containing 1 precursor							120.0	109.0	113.0					10																	30629219		2203	4300	6503	SO:0001583	missense	55149				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	g.chr10:30629219C>A	AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.491G>T	10.37:g.30629219C>A	ENSP00000263063:p.Arg164Leu					MTPAP_uc001ivb.3_Missense_Mutation_p.R294L|MTPAP_uc001ivc.2_Missense_Mutation_p.R164L	p.R164L	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN			3	554	-			164					D3DRX0|Q659E3|Q6P7E5|Q9HA74	Missense_Mutation	SNP	ENST00000263063.4	37	c.491G>T	CCDS7165.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.898077	0.33535	.	.	ENSG00000107951	ENST00000358107;ENST00000263063;ENST00000417581;ENST00000421701	T;T;T;T	0.46451	1.82;1.82;1.82;0.87	5.08	-7.02	0.01589	.	6.131710	0.00357	N	0.000029	T	0.18087	0.0434	N	0.08118	0	0.09310	N	1	B;B;B	0.14438	0.0;0.01;0.0	B;B;B	0.12156	0.001;0.007;0.001	T	0.08229	-1.0732	10	0.25751	T	0.34	-0.0535	2.25	0.04041	0.1047:0.2517:0.3226:0.321	.	126;294;164	Q5T851;Q9NVV4-2;Q9NVV4	.;.;PAPD1_HUMAN	L	294;164;99;126	ENSP00000350820:R294L;ENSP00000263063:R164L;ENSP00000404392:R99L;ENSP00000394118:R126L	ENSP00000263063:R164L	R	-	2	0	MTPAP	30669225	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.137000	0.10389	-1.509000	0.01798	-1.130000	0.01982	CGG		0.403	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	NM_018109		26	98	1	0	4.59853e-10	0.005443	6.00669e-10	26	98				
LYZL2	119180	broad.mit.edu	37	10	30918543	30918543	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:30918543C>A	ENST00000375318.2	-	1	148	c.92G>T	c.(91-93)gGc>gTc	p.G31V		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	0					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)	p.G31V(2)		NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				ATTCCTGGTGCCTGCCGCAGA	0.522																																							uc001ivk.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(91-93)GGC>GTC		lysozyme-like 2							77.0	70.0	72.0					10																	30918543		2203	4300	6503	SO:0001583	missense	119180				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr10:30918543C>A	AF139543	CCDS7167.2	10p11.23	2009-12-04			ENSG00000151033	ENSG00000151033			29613	protein-coding gene	gene with protein product		612748					Standard	NM_183058		Approved		uc001ivk.3	Q7Z4W2	OTTHUMG00000017898	ENST00000375318.2:c.92G>T	10.37:g.30918543C>A	ENSP00000364467:p.Gly31Val						p.G31V	NM_183058	NP_898881	Q7Z4W2	LYZL2_HUMAN			1	105	-		Prostate(175;0.151)	Error:Variant_position_missing_in_Q7Z4W2_after_alignment					Q6NZ69	Missense_Mutation	SNP	ENST00000375318.2	37	c.92G>T	CCDS7167.2	.	.	.	.	.	.	.	.	.	.	C	10.50	1.368561	0.24771	.	.	ENSG00000151033	ENST00000375318	T	0.68479	-0.33	1.45	0.519	0.17035	.	2.316900	0.02402	N	0.080771	T	0.56232	0.1971	.	.	.	0.09310	N	0.999995	P	0.41784	0.762	B	0.39379	0.298	T	0.48670	-0.9015	9	0.56958	D	0.05	-13.5803	3.7669	0.08626	0.0:0.7556:0.0:0.2444	.	31	Q7Z4W2-2	.	V	31	ENSP00000364467:G31V	ENSP00000364467:G31V	G	-	2	0	LYZL2	30958549	0.001000	0.12720	0.009000	0.14445	0.039000	0.13416	0.338000	0.19858	0.167000	0.19631	0.460000	0.39030	GGC		0.522	LYZL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047434.1	NM_183058		19	52	1	0	1.96292e-10	0.010504	2.59505e-10	19	52				
ANKRD30A	91074	broad.mit.edu	37	10	37482152	37482152	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:37482152C>A	ENST00000602533.1	+	27	2511	c.2412C>A	c.(2410-2412)gcC>gcA	p.A804A	ANKRD30A_ENST00000374660.1_Silent_p.A923A|ANKRD30A_ENST00000361713.1_Silent_p.A804A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	860					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A804A(2)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CAACTAAAGCCTTAGAATTGA	0.279																																							uc001iza.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(7)|breast(1)|skin(1)	9						c.(2410-2412)GCC>GCA		ankyrin repeat domain 30A							58.0	55.0	56.0					10																	37482152		1785	4056	5841	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37482152C>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2412C>A	10.37:g.37482152C>A							p.A804A	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			27	2511	+			860					Q5W025	Silent	SNP	ENST00000602533.1	37	c.2412C>A																																																																																					0.279	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		16	77	1	0	1.02788e-11	0.00499	1.41723e-11	16	77				
GDF2	2658	broad.mit.edu	37	10	48413769	48413769	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:48413769C>A	ENST00000249598.1	-	2	1258	c.1099G>T	c.(1099-1101)Gat>Tat	p.D367Y		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	367					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.D367Y(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GGCGTCACATCGTCAGCCAAG	0.577																																							uc001jfa.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1099-1101)GAT>TAT		growth differentiation factor 2 precursor							125.0	104.0	111.0					10																	48413769		2203	4300	6503	SO:0001583	missense	2658				activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr10:48413769C>A	AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"""Endogenous ligands"""	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.1099G>T	10.37:g.48413769C>A	ENSP00000249598:p.Asp367Tyr						p.D367Y	NM_016204	NP_057288	Q9UK05	GDF2_HUMAN			2	1262	-			367					Q5VSQ9|Q9Y571	Missense_Mutation	SNP	ENST00000249598.1	37	c.1099G>T	CCDS7219.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941568	0.34283	.	.	ENSG00000128802	ENST00000249598	D	0.84223	-1.82	5.62	5.62	0.85841	Transforming growth factor-beta, C-terminal (3);	0.134122	0.64402	D	0.000002	D	0.83695	0.5310	N	0.20574	0.59	0.54753	D	0.999982	D	0.71674	0.998	D	0.65010	0.931	T	0.83247	-0.0055	10	0.48119	T	0.1	.	8.2444	0.31680	0.0:0.8308:0.0:0.1692	.	367	Q9UK05	GDF2_HUMAN	Y	367	ENSP00000249598:D367Y	ENSP00000249598:D367Y	D	-	1	0	GDF2	48033775	0.978000	0.34361	0.625000	0.29200	0.103000	0.19146	2.329000	0.43876	2.652000	0.90054	0.585000	0.79938	GAT		0.577	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1	NM_016204		19	91	1	0	4.35082e-09	0.010504	5.49895e-09	19	91				
ANK3	288	broad.mit.edu	37	10	61894041	61894041	+	Silent	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:61894041T>A	ENST00000280772.2	-	25	3020	c.2829A>T	c.(2827-2829)ccA>ccT	p.P943P	ANK3_ENST00000503366.1_Silent_p.P944P|ANK3_ENST00000373827.2_Silent_p.P937P|ANK3_ENST00000355288.2_Silent_p.P77P	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	943					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)	p.P578P(2)|p.P77P(2)|p.P943P(2)		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						GCTCTTTGGATGGCACAAGGA	0.398																																							uc001jky.2		NA																	6	Substitution - coding silent(6)		lung(6)	skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(2827-2829)CCA>CCT		ankyrin 3 isoform 1							117.0	99.0	105.0					10																	61894041		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61894041T>A	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.2829A>T	10.37:g.61894041T>A						ANK3_uc001jkw.2_Silent_p.P77P|ANK3_uc009xpa.2_Silent_p.P77P|ANK3_uc001jkx.2_Silent_p.P121P|ANK3_uc010qih.1_Silent_p.P944P|ANK3_uc001jkz.3_Silent_p.P937P|ANK3_uc001jla.1_Silent_p.P9P|ANK3_uc001jlb.1_Silent_p.P450P	p.P943P	NM_020987	NP_066267	Q12955	ANK3_HUMAN			25	3021	-			943					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.2829A>T	CCDS7258.1																																																																																				0.398	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		18	35	0	0	0	0.007413	0	18	35				
CTNNA3	29119	broad.mit.edu	37	10	67726505	67726505	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:67726505C>A	ENST00000433211.2	-	17	2440		c.e17-1		CTNNA3_ENST00000373735.1_Splice_Site|CTNNA3_ENST00000373744.4_Splice_Site	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.?(4)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GATCTGGGCACTAAATATGAA	0.363																																							uc009xpn.1		NA																	4	Unknown(4)		lung(4)	skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.e17-1		catenin, alpha 3							60.0	59.0	59.0					10																	67726505		2203	4300	6503	SO:0001630	splice_region_variant	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:67726505C>A	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.2266-1G>T	10.37:g.67726505C>A						CTNNA3_uc001jmw.2_Splice_Site_p.C756_splice	p.C756_splice	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			17	2389	-									Splice_Site	SNP	ENST00000433211.2	37	c.2266_splice	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.226507	0.39300	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000373735	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8369	0.85959	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CTNNA3	67396511	1.000000	0.71417	0.998000	0.56505	0.145000	0.21501	7.776000	0.85560	2.652000	0.90054	0.650000	0.86243	.		0.363	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266	Intron	18	66	1	0	1.99824e-07	0.00499	2.40316e-07	18	66				
TET1	80312	broad.mit.edu	37	10	70405010	70405010	+	Missense_Mutation	SNP	A	A	G	rs77500190	byFrequency	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:70405010A>G	ENST00000373644.4	+	4	2733	c.2524A>G	c.(2524-2526)Atc>Gtc	p.I842V		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	842					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.I842V(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TTCACACTCCATCATAAATCA	0.398													A|||	2	0.000399361	0.0	0.0	5008	,	,		19739	0.002		0.0	False		,,,				2504	0.0						uc001jok.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(2524-2526)ATC>GTC		CXXC finger 6							129.0	121.0	124.0					10																	70405010		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70405010A>G	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.2524A>G	10.37:g.70405010A>G	ENSP00000362748:p.Ile842Val						p.I842V	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			4	3029	+			842					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.2524A>G	CCDS7281.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	0.001	-3.114025	0.00032	.	.	ENSG00000138336	ENST00000373644	T	0.06142	3.34	5.92	2.1	0.27182	.	1.629350	0.03324	N	0.192323	T	0.04227	0.0117	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42327	-0.9458	10	0.16896	T	0.51	.	1.0373	0.01551	0.3714:0.3194:0.1309:0.1783	.	842	Q8NFU7	TET1_HUMAN	V	842	ENSP00000362748:I842V	ENSP00000362748:I842V	I	+	1	0	TET1	70075016	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.507000	0.22675	1.059000	0.40554	-0.321000	0.08615	ATC		0.398	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		40	170	0	0	0	0.005524	0	40	170				
ADAMTS14	140766	broad.mit.edu	37	10	72520242	72520242	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:72520242C>T	ENST00000373207.1	+	22	3305	c.3305C>T	c.(3304-3306)cCt>cTt	p.P1102L	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.P1105L	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1102	Pro-rich.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P1105L(2)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GGCcccaaccctggcccagac	0.637																																							uc001jrh.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(3304-3306)CCT>CTT		ADAM metallopeptidase with thrombospondin type 1							54.0	52.0	53.0					10																	72520242		2203	4300	6503	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72520242C>T	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.3305C>T	10.37:g.72520242C>T	ENSP00000362303:p.Pro1102Leu					ADAMTS14_uc001jrg.2_Missense_Mutation_p.P1105L	p.P1102L	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN			22	3305	+			1102			Pro-rich.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.3305C>T	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.266000	0.23136	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.60920	0.15;0.18	3.36	1.4	0.22301	.	1.878330	0.04276	U	0.343026	T	0.43897	0.1268	N	0.25647	0.755	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.20273	-1.0280	10	0.26408	T	0.33	.	6.7359	0.23409	0.0:0.6829:0.0:0.3171	.	1102;1105	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	L	1105;1102	ENSP00000362304:P1105L;ENSP00000362303:P1102L	ENSP00000362303:P1102L	P	+	2	0	ADAMTS14	72190248	0.000000	0.05858	0.002000	0.10522	0.045000	0.14185	0.690000	0.25451	0.232000	0.21100	0.655000	0.94253	CCT		0.637	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		33	69	0	0	0	0.010818	0	33	69				
ACTA2	59	broad.mit.edu	37	10	90699439	90699439	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:90699439G>T	ENST00000458208.1	-	7	1107	c.633C>A	c.(631-633)gtC>gtA	p.V211V	ACTA2_ENST00000480297.1_5'Flank|ACTA2-AS1_ENST00000437930.4_RNA|STAMBPL1_ENST00000371927.3_Intron|ACTA2-AS1_ENST00000596007.1_RNA|ACTA2_ENST00000224784.6_Silent_p.V211V	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	211					glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)	p.V211V(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TGATGTCCCGGACAATCTCAC	0.498																																							uc001kfp.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(631-633)GTC>GTA		alpha 2 actin							104.0	80.0	88.0					10																	90699439		2203	4300	6503	SO:0001819	synonymous_variant	59				response to virus	cytosol	ATP binding	g.chr10:90699439G>T	X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796			130	protein-coding gene	gene with protein product		102620				2398629	Standard	NM_001141945		Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700	ENST00000458208.1:c.633C>A	10.37:g.90699439G>T						STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.1_Silent_p.V166V|ACTA2_uc001kfq.2_Silent_p.V211V|uc001kfo.1_RNA	p.V211V	NM_001613	NP_001604	P62736	ACTA_HUMAN		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)	7	749	-		Colorectal(252;0.0161)	211					B2R8A4|P03996|P04108|Q6FI19	Silent	SNP	ENST00000458208.1	37	c.633C>A	CCDS7392.1																																																																																				0.498	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049264.1	NM_001613		13	53	1	0	1.36491e-13	0.001855	1.97677e-13	13	53				
SEC31B	25956	broad.mit.edu	37	10	102249075	102249075	+	Silent	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:102249075G>C	ENST00000370345.3	-	23	3202	c.3105C>G	c.(3103-3105)ccC>ccG	p.P1035P		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1035	Pro-rich.				protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)		p.P1035P(2)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GGGGCTGTGAGGGAAGAATCC	0.537																																							uc001krc.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(3103-3105)CCC>CCG		SEC31 homolog B							72.0	79.0	76.0					10																	102249075		2203	4300	6503	SO:0001819	synonymous_variant	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102249075G>C	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.3105C>G	10.37:g.102249075G>C						SEC31B_uc010qpo.1_Silent_p.P1034P|SEC31B_uc001krd.1_Silent_p.P572P|SEC31B_uc001krf.1_Silent_p.P467P|SEC31B_uc001kre.1_Silent_p.P467P	p.P1035P	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	23	3207	-		Colorectal(252;0.117)	1035			Pro-rich.		B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Silent	SNP	ENST00000370345.3	37	c.3105C>G	CCDS7495.1																																																																																				0.537	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		9	27	0	0	0	0.004482	0	9	27				
SMC3	9126	broad.mit.edu	37	10	112356170	112356170	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:112356170C>T	ENST00000361804.4	+	19	2104	c.1978C>T	c.(1978-1980)Cat>Tat	p.H660Y		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	660	Flexible hinge.				DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)	p.H660Y(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		CCAAGTCAGCCATCGGGGTGC	0.358																																							uc001kze.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1978-1980)CAT>TAT		structural maintenance of chromosomes 3							102.0	103.0	103.0					10																	112356170		2203	4300	6503	SO:0001583	missense	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112356170C>T	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.1978C>T	10.37:g.112356170C>T	ENSP00000354720:p.His660Tyr						p.H660Y	NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	19	2104	+		Breast(234;0.0848)|Lung NSC(174;0.238)	660			Flexible hinge.		A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	c.1978C>T	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365388	0.61513	.	.	ENSG00000108055	ENST00000361804	D	0.85556	-2.0	5.33	5.33	0.75918	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.83266	0.5217	N	0.08118	0	0.80722	D	1	D	0.65815	0.995	P	0.57720	0.826	D	0.87268	0.2284	10	0.66056	D	0.02	.	19.0314	0.92959	0.0:1.0:0.0:0.0	.	660	Q9UQE7	SMC3_HUMAN	Y	660	ENSP00000354720:H660Y	ENSP00000354720:H660Y	H	+	1	0	SMC3	112346160	1.000000	0.71417	1.000000	0.80357	0.084000	0.17831	7.407000	0.80029	2.489000	0.83994	0.313000	0.20887	CAT		0.358	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		32	112	0	0	0	0.010818	0	32	112				
NRAP	4892	broad.mit.edu	37	10	115410292	115410292	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:115410292C>T	ENST00000359988.3	-	8	932	c.688G>A	c.(688-690)Gag>Aag	p.E230K	NRAP_ENST00000360478.3_Missense_Mutation_p.E230K|NRAP_ENST00000369358.4_Missense_Mutation_p.E230K|NRAP_ENST00000369360.3_Missense_Mutation_p.E230K	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.E230K(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TCATAGTCCTCTGTGTATCTC	0.448																																							uc001laj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10						c.(688-690)GAG>AAG		nebulin-related anchoring protein isoform S							144.0	119.0	127.0					10																	115410292		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115410292C>T		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.688G>A	10.37:g.115410292C>T	ENSP00000353078:p.Glu230Lys					NRAP_uc001lak.2_Missense_Mutation_p.E230K|NRAP_uc001lal.3_Missense_Mutation_p.E230K	p.E230K	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	8	852	-		Colorectal(252;0.0233)|Breast(234;0.188)	230			Nebulin 4.			Missense_Mutation	SNP	ENST00000359988.3	37	c.688G>A	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	34	5.301082	0.95601	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.71871	0.3391	M	0.61703	1.905	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.91635	0.999;0.998;0.997	T	0.64453	-0.6404	10	0.32370	T	0.25	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	230;230;230	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	K	230	ENSP00000358365:E230K;ENSP00000358367:E230K;ENSP00000353078:E230K;ENSP00000353666:E230K	ENSP00000353078:E230K	E	-	1	0	NRAP	115400282	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	7.085000	0.76875	2.941000	0.99782	0.655000	0.94253	GAG		0.448	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		23	63	0	0	0	0.001882	0	23	63				
TDRD1	56165	broad.mit.edu	37	10	115973156	115973156	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:115973156A>G	ENST00000369280.1	+	15	2343	c.1883A>G	c.(1882-1884)aAa>aGa	p.K628R	TDRD1_ENST00000422662.1_Missense_Mutation_p.K232R|TDRD1_ENST00000251864.2_Missense_Mutation_p.K628R|TDRD1_ENST00000369281.2_Missense_Mutation_p.K571R|TDRD1_ENST00000369282.1_Missense_Mutation_p.K628R			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	628					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)	p.K628R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TGTCTCATGAAAAAACTTGTA	0.363																																							uc001lbg.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1882-1884)AAA>AGA		tudor domain containing 1							83.0	85.0	84.0					10																	115973156		2203	4300	6503	SO:0001583	missense	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115973156A>G	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.1883A>G	10.37:g.115973156A>G	ENSP00000358286:p.Lys628Arg					TDRD1_uc001lbf.2_Missense_Mutation_p.K562R|TDRD1_uc001lbh.1_Missense_Mutation_p.K619R|TDRD1_uc001lbi.1_Missense_Mutation_p.K619R|TDRD1_uc010qsc.1_Missense_Mutation_p.K232R|TDRD1_uc001lbj.2_Missense_Mutation_p.K337R	p.K628R	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	15	2036	+		Colorectal(252;0.172)|Breast(234;0.188)	628					A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37	c.1883A>G		.	.	.	.	.	.	.	.	.	.	A	14.13	2.444616	0.43429	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.25749	3.05;3.05;1.78;2.4;3.05	5.77	1.7	0.24286	.	0.460627	0.24937	N	0.034404	T	0.21550	0.0519	L	0.51853	1.615	0.36663	D	0.878054	B;B;B;B;B	0.18310	0.013;0.016;0.005;0.027;0.005	B;B;B;B;B	0.19391	0.025;0.008;0.005;0.022;0.016	T	0.09862	-1.0655	10	0.33141	T	0.24	-15.4057	9.008	0.36124	0.7741:0.0:0.2259:0.0	.	232;628;571;628;571	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	R	628;628;571;232;628	ENSP00000358288:K628R;ENSP00000251864:K628R;ENSP00000358287:K571R;ENSP00000402794:K232R;ENSP00000358286:K628R	ENSP00000251864:K628R	K	+	2	0	TDRD1	115963146	0.998000	0.40836	0.785000	0.31869	0.974000	0.67602	1.611000	0.36879	0.028000	0.15324	0.523000	0.50628	AAA		0.363	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			5	114	0	0	0	0.001168	0	5	114				
ATRNL1	26033	broad.mit.edu	37	10	117061553	117061553	+	Splice_Site	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:117061553C>G	ENST00000355044.3	+	17	2944	c.2818C>G	c.(2818-2820)Cct>Gct	p.P940A	ATRNL1_ENST00000303745.7_5'UTR|ATRNL1_ENST00000423111.2_Splice_Site_p.P37A	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	940					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.P940A(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CACCTGCTCCCGTAAGTATTT	0.358																																							uc001lcg.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)	7						c.(2818-2820)CCT>GCT		attractin-like 1 precursor							163.0	141.0	148.0					10																	117061553		2203	4300	6503	SO:0001630	splice_region_variant	26033					integral to membrane	sugar binding	g.chr10:117061553C>G	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2818+1C>G	10.37:g.117061553C>G						ATRNL1_uc010qsm.1_Missense_Mutation_p.P115A|ATRNL1_uc010qsn.1_RNA	p.P940A	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	17	3204	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	940			Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.2818C>G	CCDS7592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.351|7.351	0.622806|0.622806	0.14193|0.14193	.|.	.|.	ENSG00000107518|ENSG00000107518	ENST00000355044;ENST00000423111|ENST00000526373	T;T|.	0.24908|.	2.47;1.83|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.169681|0.169681	0.56097|0.56097	D|D	0.000031|0.000031	T|T	0.30324|0.30324	0.0761|0.0761	N|N	0.02539|0.02539	-0.55|-0.55	0.80722|0.80722	D|D	1|1	B;B|.	0.09022|.	0.001;0.002|.	B;B|.	0.11329|.	0.002;0.006|.	T|T	0.30149|0.30149	-0.9988|-0.9988	10|6	0.02654|.	T|.	1|.	-13.6826|-13.6826	12.968|12.968	0.58497|0.58497	0.0:0.9263:0.0:0.0737|0.0:0.9263:0.0:0.0737	.|.	37;940|.	B4DH41;Q5VV63|.	.;ATRN1_HUMAN|.	A|R	940;37|69	ENSP00000347152:P940A;ENSP00000409624:P37A|.	ENSP00000347152:P940A|.	P|P	+|+	1|2	0|0	ATRNL1|ATRNL1	117051543|117051543	0.963000|0.963000	0.33076|0.33076	0.999000|0.999000	0.59377|0.59377	0.900000|0.900000	0.52787|0.52787	1.983000|1.983000	0.40648|0.40648	2.664000|2.664000	0.90586|0.90586	0.591000|0.591000	0.81541|0.81541	CCT|CCC		0.358	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349	Missense_Mutation	17	106	0	0	0	0.004007	0	17	106				
ATRNL1	26033	broad.mit.edu	37	10	117486760	117486760	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:117486760A>T	ENST00000355044.3	+	27	3924	c.3798A>T	c.(3796-3798)caA>caT	p.Q1266H	ATRNL1_ENST00000303745.7_Missense_Mutation_p.Q59H|ATRNL1_ENST00000423111.2_Missense_Mutation_p.Q317H	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1266					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.Q1266H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CCCTCCAGCAACTGCTTCGAG	0.428																																							uc001lcg.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)	7						c.(3796-3798)CAA>CAT		attractin-like 1 precursor							45.0	44.0	44.0					10																	117486760		2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117486760A>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3798A>T	10.37:g.117486760A>T	ENSP00000347152:p.Gln1266His					ATRNL1_uc010qsm.1_Missense_Mutation_p.Q395H|ATRNL1_uc010qsn.1_RNA	p.Q1266H	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	27	4184	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1266			Cytoplasmic (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.3798A>T	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	A	16.63	3.176712	0.57692	.	.	ENSG00000107518	ENST00000355044;ENST00000423111;ENST00000303745	T;T;T	0.48836	0.8;0.8;0.8	5.78	5.78	0.91487	.	0.116265	0.64402	D	0.000012	T	0.67841	0.2936	M	0.71581	2.175	0.45239	D	0.998248	P;D	0.57571	0.838;0.98	B;D	0.69654	0.276;0.965	T	0.71094	-0.4692	10	0.72032	D	0.01	-11.5154	16.0997	0.81163	1.0:0.0:0.0:0.0	.	317;1266	B4DH41;Q5VV63	.;ATRN1_HUMAN	H	1266;317;59	ENSP00000347152:Q1266H;ENSP00000409624:Q317H;ENSP00000307660:Q59H	ENSP00000307660:Q59H	Q	+	3	2	ATRNL1	117476750	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.340000	0.72973	2.199000	0.70637	0.533000	0.62120	CAA		0.428	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		17	46	0	0	0	0.00499	0	17	46				
KCNK18	338567	broad.mit.edu	37	10	118969187	118969187	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:118969187T>C	ENST00000334549.1	+	3	532	c.532T>C	c.(532-534)Tcc>Ccc	p.S178P		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	178					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)	p.S178P(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CCCCCTCCTCTCCAAGTGGTG	0.512																																							uc010qsr.1		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(532-534)TCC>CCC		potassium channel, subfamily K, member 18							77.0	82.0	80.0					10																	118969187		2203	4300	6503	SO:0001583	missense	338567					integral to membrane|plasma membrane		g.chr10:118969187T>C	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.532T>C	10.37:g.118969187T>C	ENSP00000334650:p.Ser178Pro						p.S178P	NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN		all cancers(201;0.0211)	3	532	+		Colorectal(252;0.19)	178			Cytoplasmic (Potential).		Q5SQQ8	Missense_Mutation	SNP	ENST00000334549.1	37	c.532T>C	CCDS7598.1	.	.	.	.	.	.	.	.	.	.	T	10.95	1.496292	0.26861	.	.	ENSG00000186795	ENST00000334549	T	0.15603	2.41	4.94	-3.65	0.04502	.	1.292620	0.04798	N	0.432898	T	0.06050	0.0157	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.31558	-0.9939	10	0.27082	T	0.32	.	2.5314	0.04703	0.1169:0.3264:0.1181:0.4385	.	178	Q7Z418	KCNKI_HUMAN	P	178	ENSP00000334650:S178P	ENSP00000334650:S178P	S	+	1	0	KCNK18	118959177	0.000000	0.05858	0.000000	0.03702	0.211000	0.24417	-0.179000	0.09768	-0.431000	0.07307	0.533000	0.62120	TCC		0.512	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		27	128	0	0	0	0.003954	0	27	128				
EBF3	253738	broad.mit.edu	37	10	131640542	131640542	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:131640542G>A	ENST00000355311.5	-	13	1282	c.1210C>T	c.(1210-1212)Cga>Tga	p.R404*	MIR4297_ENST00000579857.1_RNA|EBF3_ENST00000368648.3_Nonsense_Mutation_p.R395*			Q9H4W6	COE3_HUMAN	early B-cell factor 3	404					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R395*(1)|p.R404*(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TCCGCCGCTCGCTTCAAGATG	0.667																																							uc001lki.1		NA																	2	Substitution - Nonsense(2)		haematopoietic_and_lymphoid_tissue(2)	central_nervous_system(1)|pancreas(1)	2						c.(1183-1185)CGA>TGA		early B-cell factor 3							91.0	82.0	85.0					10																	131640542		2203	4300	6503	SO:0001587	stop_gained	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131640542G>A		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.1210C>T	10.37:g.131640542G>A	ENSP00000347463:p.Arg404*						p.R395*	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	13	1242	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	404					A0AUY1|Q5T6H9|Q9H4W5	Nonsense_Mutation	SNP	ENST00000355311.5	37	c.1183C>T		.	.	.	.	.	.	.	.	.	.	G	40	8.098146	0.98654	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	.	.	.	5.54	3.53	0.40419	.	0.054996	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.389	14.6052	0.68472	0.0:0.0:0.6324:0.3676	.	.	.	.	X	404;395	.	ENSP00000347463:R404X	R	-	1	2	EBF3	131530532	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.287000	0.43505	1.422000	0.47177	0.650000	0.86243	CGA		0.667	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		4	122	0	0	0	0.000602	0	4	122				
PHRF1	57661	broad.mit.edu	37	11	608329	608329	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:608329G>C	ENST00000264555.5	+	14	3001	c.2873G>C	c.(2872-2874)cGg>cCg	p.R958P	PHRF1_ENST00000413872.2_Missense_Mutation_p.R956P|PHRF1_ENST00000533464.1_Missense_Mutation_p.R954P|PHRF1_ENST00000416188.2_Missense_Mutation_p.R957P	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	958					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)	p.R958P(1)|p.R963P(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TCTGAGGAGCGGACGGTGACC	0.692																																							uc001lqe.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2872-2874)CGG>CCG		PHD and ring finger domains 1							19.0	25.0	24.0					11																	608329		2029	4177	6206	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:608329G>C	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.2873G>C	11.37:g.608329G>C	ENSP00000264555:p.Arg958Pro					PHRF1_uc010qwc.1_Missense_Mutation_p.R957P|PHRF1_uc010qwd.1_Missense_Mutation_p.R956P|PHRF1_uc010qwe.1_Missense_Mutation_p.R954P|PHRF1_uc009ybz.1_Missense_Mutation_p.R748P|PHRF1_uc009yca.1_RNA	p.R958P	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN			14	3004	+			958					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.2873G>C		.	.	.	.	.	.	.	.	.	.	G	18.28	3.589092	0.66105	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39	4.55	4.55	0.56014	.	0.000000	0.36854	N	0.002378	T	0.80613	0.4656	L	0.29908	0.895	0.38052	D	0.935797	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.75484	0.968;0.986;0.986;0.968	T	0.81215	-0.1034	10	0.51188	T	0.08	-29.517	5.8175	0.18500	0.0966:0.0:0.6957:0.2076	.	954;956;957;958	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	P	958;956;957;954	ENSP00000264555:R958P;ENSP00000388589:R956P;ENSP00000410626:R957P;ENSP00000431870:R954P	ENSP00000264555:R958P	R	+	2	0	PHRF1	598329	0.391000	0.25221	0.990000	0.47175	0.989000	0.77384	3.287000	0.51732	2.356000	0.79943	0.555000	0.69702	CGG		0.692	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		8	11	0	0	0	0.004482	0	8	11				
MUC5AC	4586	broad.mit.edu	37	11	1161857	1161857	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:1161857C>T	ENST00000356191.2	+	18	1528	c.1528C>T	c.(1528-1530)Cag>Tag	p.Q510*				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	513	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GTTCCTGAACCAGATCTACAC	0.672																																							uc009ycr.1		NA																	0					0						c.(1537-1539)CAG>TAG		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							35.0	34.0	34.0					11																	1161857		873	1989	2862	SO:0001587	stop_gained	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1161857C>T	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.1528C>T	11.37:g.1161857C>T	ENSP00000348519:p.Gln510*						p.Q513*	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	14	1663	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Nonsense_Mutation	SNP	ENST00000356191.2	37	c.1537C>T		.	.	.	.	.	.	.	.	.	.	c	17.96	3.515998	0.64634	.	.	ENSG00000215182	ENST00000534821;ENST00000356191	.	.	.	3.0	-1.5	0.08691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	3.416	0.07376	0.4321:0.2428:0.0:0.3252	.	.	.	.	X	513;510	.	ENSP00000348519:Q510X	Q	+	1	0	MUC5AC	1151857	0.000000	0.05858	0.732000	0.30844	0.804000	0.45430	-0.438000	0.06905	-0.171000	0.10797	0.290000	0.19541	CAG		0.672	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_001130382		5	49	0	0	0	0.001984	0	5	49				
OR51B5	282763	broad.mit.edu	37	11	5364170	5364170	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:5364170C>G	ENST00000300773.2	-	1	639	c.585G>C	c.(583-585)ctG>ctC	p.L195L	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	195					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L195L(2)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCTGGGTACAGTCGGTTGA	0.423																																							uc001map.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(583-585)CTG>CTC		olfactory receptor, family 51, subfamily B,							106.0	111.0	109.0					11																	5364170		2201	4297	6498	SO:0001819	synonymous_variant	282763				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5364170C>G	BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"""GPCR / Class A : Olfactory receptors"""	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.585G>C	11.37:g.5364170C>G						HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	p.L195L	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	585	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	195			Helical; Name=5; (Potential).		B2RN59	Silent	SNP	ENST00000300773.2	37	c.585G>C	CCDS31378.1																																																																																				0.423	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142975.1	NM_001005567		71	121	0	0	0	0.00361	0	71	121				
OR52N5	390075	broad.mit.edu	37	11	5799229	5799229	+	Silent	SNP	A	A	T	rs370289455		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:5799229A>T	ENST00000317093.2	-	1	668	c.636T>A	c.(634-636)gcT>gcA	p.A212A	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A212A(2)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CAATCAGGAGAGCAACCATTA	0.428																																							uc010qzn.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(2)	2						c.(634-636)GCT>GCA		olfactory receptor, family 52, subfamily N,							139.0	122.0	128.0					11																	5799229		2121	4085	6206	SO:0001819	synonymous_variant	390075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5799229A>T	AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.636T>A	11.37:g.5799229A>T						TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.A212A	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	636	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	212			Helical; Name=5; (Potential).		B9EH12|Q6IFG2	Silent	SNP	ENST00000317093.2	37	c.636T>A	CCDS31397.1																																																																																				0.428	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922		13	125	0	0	0	0.001368	0	13	125				
OR56A1	120796	broad.mit.edu	37	11	6048891	6048891	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:6048891G>T	ENST00000316650.5	-	1	80	c.44C>A	c.(43-45)cCa>cAa	p.P15Q		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P15Q(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCAGAGACTGGGACAGTGGA	0.522																																							uc010qzw.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)	3						c.(43-45)CCA>CAA		olfactory receptor, family 56, subfamily A,							113.0	113.0	113.0					11																	6048891		2201	4296	6497	SO:0001583	missense	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048891G>T	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.44C>A	11.37:g.6048891G>T	ENSP00000321246:p.Pro15Gln						p.P15Q	NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	44	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	15			Extracellular (Potential).		B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	c.44C>A	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.470769	0.01044	.	.	ENSG00000180934	ENST00000316650	T	0.37058	1.22	4.14	-0.0814	0.13702	.	0.409391	0.17706	U	0.164765	T	0.08846	0.0219	N	0.00510	-1.415	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.25710	-1.0124	10	0.41790	T	0.15	.	3.8501	0.08951	0.4622:0.0:0.3688:0.1691	.	15	Q8NGH5	O56A1_HUMAN	Q	15	ENSP00000321246:P15Q	ENSP00000321246:P15Q	P	-	2	0	OR56A1	6005467	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	-0.359000	0.07632	-0.102000	0.12197	0.563000	0.77884	CCA		0.522	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		49	94	1	0	2.01807e-28	0.00361	3.55441e-28	49	94				
DCHS1	8642	broad.mit.edu	37	11	6661905	6661905	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:6661905G>A	ENST00000299441.3	-	2	1351	c.940C>T	c.(940-942)Ctg>Ttg	p.L314L		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	314	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L314L(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTAACTGCAGCAGCCCCGTG	0.617																																							uc001mem.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|large_intestine(1)|pancreas(1)	5						c.(940-942)CTG>TTG		dachsous 1 precursor							103.0	94.0	97.0					11																	6661905		2201	4296	6497	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6661905G>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.940C>T	11.37:g.6661905G>A							p.L314L	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1350	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	314			Extracellular (Potential).|Cadherin 3.		O15098	Silent	SNP	ENST00000299441.3	37	c.940C>T	CCDS7771.1																																																																																				0.617	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		16	96	0	0	0	0.003954	0	16	96				
NLRP14	338323	broad.mit.edu	37	11	7064372	7064372	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:7064372G>T	ENST00000299481.4	+	4	1461	c.1115G>T	c.(1114-1116)tGc>tTc	p.C372F		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	372	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.C372F(2)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CCCCTAGTGTGCTGGGCCGCT	0.443																																							uc001mfb.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(1114-1116)TGC>TTC		NLR family, pyrin domain containing 14							131.0	129.0	130.0					11																	7064372		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7064372G>T	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1115G>T	11.37:g.7064372G>T	ENSP00000299481:p.Cys372Phe						p.C372F	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	1438	+			372			NACHT.		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.1115G>T	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.520140	0.27211	.	.	ENSG00000158077	ENST00000299481	D	0.86432	-2.12	4.51	3.59	0.41128	NACHT nucleoside triphosphatase (1);	0.000000	0.53938	D	0.000049	D	0.92935	0.7752	M	0.90595	3.13	0.41827	D	0.990053	D	0.89917	1.0	D	0.70716	0.97	D	0.92766	0.6228	10	0.72032	D	0.01	.	7.7992	0.29164	0.111:0.0:0.889:0.0	.	372	Q86W24	NAL14_HUMAN	F	372	ENSP00000299481:C372F	ENSP00000299481:C372F	C	+	2	0	NLRP14	7020948	1.000000	0.71417	0.902000	0.35471	0.011000	0.07611	5.023000	0.64084	2.519000	0.84933	0.655000	0.94253	TGC		0.443	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		30	189	1	0	1.13719e-10	0.008361	1.52557e-10	30	189				
SPON1	10418	broad.mit.edu	37	11	14284462	14284462	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:14284462C>A	ENST00000534587.1	-	0	169				SPON1_ENST00000310358.7_RNA														p.A733D(2)									TGGAGGGAGGCCCGAGAGAGC	0.582																																							uc001mle.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2200-2202)GCC>GAC		spondin 1, extracellular matrix protein							42.0	44.0	43.0					11																	14284462		1927	4119	6046			10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14284462C>A																													11.37:g.14284462C>A							p.A734D	NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	16	2739	+			734						Missense_Mutation	SNP	ENST00000534587.1	37	c.2201C>A		.	.	.	.	.	.	.	.	.	.	C	15.99	2.994741	0.54041	.	.	ENSG00000152268	ENST00000310358	.	.	.	6.04	4.95	0.65309	.	0.216632	0.47455	D	0.000224	T	0.35098	0.0920	.	.	.	0.42393	D	0.992536	B	0.10296	0.003	B	0.04013	0.001	T	0.33650	-0.9860	7	0.13108	T	0.6	.	13.4484	0.61155	0.0:0.9129:0.0:0.0871	.	734	Q9HCB6	SPON1_HUMAN	D	733	.	ENSP00000309297:A733D	A	+	2	0	SPON1	14241038	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.746000	0.55127	2.873000	0.98535	0.561000	0.74099	GCC		0.582	RP11-21L19.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000386031.1			21	34	1	0	1.2644e-06	0.010504	1.48466e-06	21	34				
USH1C	10083	broad.mit.edu	37	11	17554815	17554815	+	Silent	SNP	G	G	T	rs121908370		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:17554815G>T	ENST00000318024.4	-	2	199	c.91C>A	c.(91-93)Cga>Aga	p.R31R	USH1C_ENST00000005226.7_Silent_p.R31R|USH1C_ENST00000527720.1_5'UTR|USH1C_ENST00000527020.1_Silent_p.R31R	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	31	N-terminal domain.				auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)	p.R31R(2)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TGGTACATTCGCAGCACATCA	0.507																																							uc001mnf.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1	GRCh37	CM010138	USH1C	M	rs121908370	c.(91-93)CGA>AGA		harmonin isoform a							123.0	112.0	116.0					11																	17554815		2200	4293	6493	SO:0001819	synonymous_variant	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17554815G>T	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.91C>A	11.37:g.17554815G>T						USH1C_uc001mne.2_Silent_p.R31R|USH1C_uc009yhb.2_Silent_p.R31R|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_5'UTR	p.R31R	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN			2	200	-			31					A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Silent	SNP	ENST00000318024.4	37	c.91C>A	CCDS31438.1																																																																																				0.507	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		18	105	1	0	2.94398e-08	0.007413	3.64493e-08	18	105				
SAA4	6291	broad.mit.edu	37	11	18253967	18253967	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:18253967C>A	ENST00000278222.4	-	3	385	c.205G>T	c.(205-207)Ggt>Tgt	p.G69C	SAA2-SAA4_ENST00000524555.1_RNA	NM_006512.3	NP_006503.2	P35542	SAA4_HUMAN	serum amyloid A4, constitutive	69					acute-phase response (GO:0006953)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)		p.G69C(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1)	13						GCCCAGACACCCCCAGGTCCT	0.507																																							uc001mny.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(205-207)GGT>TGT		serum amyloid A4, constitutive precursor							172.0	172.0	172.0					11																	18253967		2199	4293	6492	SO:0001583	missense	6291				acute-phase response	high-density lipoprotein particle		g.chr11:18253967C>A	M81349	CCDS7832.1	11p15.1-p14	2008-07-21			ENSG00000148965	ENSG00000148965			10516	protein-coding gene	gene with protein product		104752				8325654	Standard	NM_006512		Approved	C-SAA, CSAA		P35542	OTTHUMG00000166483	ENST00000278222.4:c.205G>T	11.37:g.18253967C>A	ENSP00000278222:p.Gly69Cys						p.G69C	NM_006512	NP_006503	P35542	SAA4_HUMAN			3	301	-			69					Q6FHJ4	Missense_Mutation	SNP	ENST00000278222.4	37	c.205G>T	CCDS7832.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044091	0.55110	.	.	ENSG00000148965	ENST00000278222	T	0.28255	1.62	3.58	2.66	0.31614	.	.	.	.	.	T	0.48150	0.1484	M	0.65498	2.005	0.48395	D	0.999648	D	0.89917	1.0	D	0.87578	0.998	T	0.41179	-0.9523	9	0.87932	D	0	-5.1075	6.9969	0.24786	0.0:0.8653:0.0:0.1347	.	69	P35542	SAA4_HUMAN	C	69	ENSP00000278222:G69C	ENSP00000278222:G69C	G	-	1	0	SAA4	18210543	0.935000	0.31712	0.619000	0.29118	0.891000	0.51852	3.621000	0.54210	0.483000	0.27608	0.467000	0.42956	GGT		0.507	SAA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389988.1	NM_006512		36	293	1	0	5.71845e-15	0.005524	8.43858e-15	36	293				
MRGPRX2	117194	broad.mit.edu	37	11	19077218	19077218	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:19077218G>C	ENST00000329773.2	-	2	819	c.732C>G	c.(730-732)ttC>ttG	p.F244L		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	244					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)	p.F244L(2)		NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						ATAATATTAGGAACCACTGAA	0.502																																					GBM(198;1966 2199 4849 37227 49954)	GBM(198;1966 2199 4849 37227 49954)	uc001mph.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(730-732)TTC>TTG		MAS-related GPR, member X2							63.0	64.0	64.0					11																	19077218		2199	4293	6492	SO:0001583	missense	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19077218G>C		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"""GPCR / Class A : Orphans"""	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.732C>G	11.37:g.19077218G>C	ENSP00000333800:p.Phe244Leu						p.F244L	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN			2	820	-			244			Helical; Name=6; (Potential).		B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	ENST00000329773.2	37	c.732C>G	CCDS7847.1	.	.	.	.	.	.	.	.	.	.	.	11.45	1.642493	0.29246	.	.	ENSG00000183695	ENST00000329773	T	0.32023	1.47	4.87	0.877	0.19145	GPCR, rhodopsin-like superfamily (1);	0.645964	0.14414	N	0.321054	T	0.25938	0.0632	L	0.59967	1.855	0.09310	N	1	B	0.25105	0.118	B	0.30782	0.12	T	0.28004	-1.0057	10	0.23302	T	0.38	.	4.6498	0.12589	0.2612:0.1597:0.5791:0.0	.	244	Q96LB1	MRGX2_HUMAN	L	244	ENSP00000333800:F244L	ENSP00000333800:F244L	F	-	3	2	MRGPRX2	19033794	0.009000	0.17119	0.016000	0.15963	0.015000	0.08874	0.465000	0.22004	0.089000	0.17243	-0.136000	0.14681	TTC		0.502	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		13	86	0	0	0	0.001855	0	13	86				
NAT10	55226	broad.mit.edu	37	11	34139979	34139979	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:34139979G>T	ENST00000257829.3	+	8	915	c.709G>T	c.(709-711)Gag>Tag	p.E237*	NAT10_ENST00000527971.1_Nonsense_Mutation_p.E237*|NAT10_ENST00000531159.2_Nonsense_Mutation_p.E165*	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	237						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)	p.E237*(2)		endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GGAGCTGAGGGAGTTGAAGGA	0.532																																							uc001mvk.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)|skin(1)	2						c.(709-711)GAG>TAG		N-acetyltransferase 10 isoform a							117.0	104.0	109.0					11																	34139979		2202	4298	6500	SO:0001587	stop_gained	55226					nucleolus	ATP binding|N-acetyltransferase activity|protein binding	g.chr11:34139979G>T	AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.709G>T	11.37:g.34139979G>T	ENSP00000257829:p.Glu237*					NAT10_uc010ren.1_Nonsense_Mutation_p.E165*	p.E237*	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN			8	953	+		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)	237					B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Nonsense_Mutation	SNP	ENST00000257829.3	37	c.709G>T	CCDS7889.1	.	.	.	.	.	.	.	.	.	.	G	39	7.322448	0.98210	.	.	ENSG00000135372	ENST00000257829;ENST00000531159;ENST00000527971	.	.	.	5.29	5.29	0.74685	.	0.049555	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-29.0565	18.5444	0.91040	0.0:0.0:1.0:0.0	.	.	.	.	X	237;165;237	.	ENSP00000257829:E237X	E	+	1	0	NAT10	34096555	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.752000	0.85141	2.464000	0.83262	0.555000	0.69702	GAG		0.532	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662		23	36	1	0	4.4004e-07	0.00333	5.24589e-07	23	36				
OR4C13	283092	broad.mit.edu	37	11	49974443	49974443	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:49974443C>A	ENST00000555099.1	+	1	501	c.469C>A	c.(469-471)Cag>Aag	p.Q157K		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q157K(2)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TGCAACCATACAGATCCTCTT	0.443																																							uc010rhz.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(469-471)CAG>AAG		olfactory receptor, family 4, subfamily C,							197.0	166.0	176.0					11																	49974443		2201	4296	6497	SO:0001583	missense	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974443C>A	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.469C>A	11.37:g.49974443C>A	ENSP00000452277:p.Gln157Lys						p.Q157K	NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN			1	469	+			157			Extracellular (Potential).		A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	c.469C>A	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	10.63	1.404683	0.25378	.	.	ENSG00000258817	ENST00000555099	T	0.00091	8.74	2.91	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	D	0.000461	T	0.00412	0.0013	M	0.76328	2.33	0.09310	N	1	D	0.62365	0.991	D	0.72075	0.976	T	0.46857	-0.9161	9	.	.	.	.	11.6522	0.51295	0.0:1.0:0.0:0.0	.	157	Q8NGP0	OR4CD_HUMAN	K	157	ENSP00000452277:Q157K	.	Q	+	1	0	OR4C13	49931019	0.001000	0.12720	0.989000	0.46669	0.303000	0.27691	1.278000	0.33179	1.641000	0.50575	0.186000	0.17326	CAG		0.443	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		100	122	1	0	4.25105e-50	0.00361	8.56484e-50	100	122				
OR4A5	81318	broad.mit.edu	37	11	51412283	51412283	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:51412283A>T	ENST00000319760.6	-	1	165	c.113T>A	c.(112-114)gTg>gAg	p.V38E		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V38E(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CAGGTTCCCCACCACTGTCAC	0.428																																							uc001nhi.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(112-114)GTG>GAG		olfactory receptor, family 4, subfamily A,							57.0	53.0	54.0					11																	51412283		2201	4296	6497	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51412283A>T	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.113T>A	11.37:g.51412283A>T	ENSP00000367664:p.Val38Glu						p.V38E	NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN			1	113	-		all_lung(304;0.236)	38			Helical; Name=1; (Potential).		Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.113T>A	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	6.396	0.441146	0.12164	.	.	ENSG00000221840	ENST00000319760	T	0.03580	3.88	2.01	-0.784	0.10954	.	0.171277	0.27214	N	0.020385	T	0.08670	0.0215	M	0.93550	3.43	0.27431	N	0.953997	P	0.40834	0.73	B	0.41723	0.365	T	0.07635	-1.0762	10	0.72032	D	0.01	.	3.8302	0.08871	0.3964:0.4517:0.1519:0.0	.	38	Q8NH83	OR4A5_HUMAN	E	38	ENSP00000367664:V38E	ENSP00000367664:V38E	V	-	2	0	OR4A5	51268859	0.000000	0.05858	0.651000	0.29564	0.034000	0.12701	0.615000	0.24329	-0.182000	0.10602	0.136000	0.15936	GTG		0.428	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		39	54	0	0	0	0.004878	0	39	54				
OR5L1	219437	broad.mit.edu	37	11	55579661	55579661	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:55579661C>A	ENST00000333973.2	+	1	808	c.719C>A	c.(718-720)aCc>aAc	p.T240N		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T240N(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GCCTTCTCCACCTGTGCTTCC	0.507																																							uc001nhw.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)	5						c.(718-720)ACC>AAC		olfactory receptor, family 5, subfamily L,							186.0	152.0	164.0					11																	55579661		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579661C>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.719C>A	11.37:g.55579661C>A	ENSP00000335529:p.Thr240Asn						p.T240N	NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN			1	719	+		all_epithelial(135;0.208)	240			Helical; Name=6; (Potential).		B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.719C>A	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	c	21.3	4.132387	0.77662	.	.	ENSG00000186117	ENST00000333973	T	0.40476	1.03	4.12	4.12	0.48240	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000048	T	0.74015	0.3661	H	0.95437	3.67	0.45567	D	0.998515	D	0.89917	1.0	D	0.97110	1.0	D	0.83586	0.0120	10	0.87932	D	0	-66.1415	15.121	0.72443	0.0:1.0:0.0:0.0	.	240	Q8NGL2	OR5L1_HUMAN	N	240	ENSP00000335529:T240N	ENSP00000335529:T240N	T	+	2	0	OR5L1	55336237	1.000000	0.71417	0.990000	0.47175	0.819000	0.46315	7.340000	0.79292	1.875000	0.54330	0.428000	0.28381	ACC		0.507	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		58	109	1	0	4.33383e-22	0.00361	7.00081e-22	58	109				
OR5F1	338674	broad.mit.edu	37	11	55761855	55761855	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:55761855C>G	ENST00000278409.1	-	1	246	c.247G>C	c.(247-249)Gca>Cca	p.A83P		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	83					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A83P(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AATAAATCTGCCAGCATCTTT	0.458																																							uc010riv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(247-249)GCA>CCA		olfactory receptor, family 5, subfamily F,							62.0	61.0	61.0					11																	55761855		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761855C>G	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.247G>C	11.37:g.55761855C>G	ENSP00000278409:p.Ala83Pro						p.A83P	NM_003697	NP_003688	O95221	OR5F1_HUMAN			1	247	-	Esophageal squamous(21;0.00448)		83			Extracellular (Potential).		Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.247G>C	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	C	8.757	0.922663	0.18056	.	.	ENSG00000149133	ENST00000278409	T	0.00402	7.56	3.03	0.992	0.19819	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00468	0.0015	M	0.74467	2.265	0.09310	N	1	P	0.45634	0.863	P	0.44477	0.451	T	0.47005	-0.9150	9	0.62326	D	0.03	.	4.6907	0.12780	0.0:0.5787:0.1829:0.2384	.	83	O95221	OR5F1_HUMAN	P	83	ENSP00000278409:A83P	ENSP00000278409:A83P	A	-	1	0	OR5F1	55518431	0.000000	0.05858	0.447000	0.26932	0.157000	0.22087	-4.149000	0.00285	0.395000	0.25257	0.297000	0.19635	GCA		0.458	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		9	98	0	0	0	0.008291	0	9	98				
OR5M1	390168	broad.mit.edu	37	11	56380768	56380768	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:56380768T>A	ENST00000526538.1	-	1	210	c.211A>T	c.(211-213)Att>Ttt	p.I71F		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I71F(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GAATAGCAAATGTCTACAAAG	0.468																																							uc001nja.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(211-213)ATT>TTT		olfactory receptor, family 5, subfamily M,							169.0	164.0	166.0					11																	56380768		1944	4138	6082	SO:0001583	missense	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380768T>A	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.211A>T	11.37:g.56380768T>A	ENSP00000435416:p.Ile71Phe						p.I71F	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN			1	211	-			71			Helical; Name=2; (Potential).		Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	c.211A>T	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	T	7.391	0.630848	0.14322	.	.	ENSG00000255012	ENST00000526538	D	0.89939	-2.59	3.71	-5.49	0.02584	GPCR, rhodopsin-like superfamily (1);	1.192000	0.06502	N	0.736532	T	0.76069	0.3936	N	0.17872	0.535	0.09310	N	0.999996	B	0.33477	0.413	B	0.39027	0.288	T	0.66610	-0.5880	10	0.09843	T	0.71	-33.178	2.9422	0.05834	0.2552:0.0948:0.4638:0.1862	.	71	Q8NGP8	OR5M1_HUMAN	F	71	ENSP00000435416:I71F	ENSP00000435416:I71F	I	-	1	0	OR5M1	56137344	0.000000	0.05858	0.975000	0.42487	0.911000	0.54048	-2.415000	0.01036	-0.638000	0.05509	0.232000	0.17820	ATT		0.468	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		66	91	0	0	0	0.00361	0	66	91				
OR5B21	219968	broad.mit.edu	37	11	58275002	58275002	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:58275002T>A	ENST00000360374.2	-	1	576	c.577A>T	c.(577-579)Agc>Tgc	p.S193C		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S193C(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ACCAACTTGCTGATGCGTGTG	0.463																																							uc010rki.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(577-579)AGC>TGC		olfactory receptor, family 5, subfamily B,							50.0	48.0	49.0					11																	58275002		2200	4295	6495	SO:0001583	missense	219968				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58275002T>A		CCDS31552.1	11q12.1	2012-08-09			ENSG00000198283	ENSG00000198283		"""GPCR / Class A : Olfactory receptors"""	19616	protein-coding gene	gene with protein product							Standard	NM_001005218		Approved		uc010rki.2	A6NL26	OTTHUMG00000167519	ENST00000360374.2:c.577A>T	11.37:g.58275002T>A	ENSP00000353537:p.Ser193Cys						p.S193C	NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN			1	577	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	193			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000360374.2	37	c.577A>T	CCDS31552.1	.	.	.	.	.	.	.	.	.	.	t	6.539	0.467620	0.12402	.	.	ENSG00000198283	ENST00000360374	T	0.00145	8.67	5.22	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	0.159770	0.28977	U	0.013522	T	0.00178	0.0005	M	0.64630	1.985	0.09310	N	1	B	0.18863	0.031	B	0.30316	0.114	T	0.33471	-0.9867	10	0.87932	D	0	-14.6491	6.2665	0.20930	0.0:0.0805:0.163:0.7565	.	193	A6NL26	OR5BL_HUMAN	C	193	ENSP00000353537:S193C	ENSP00000353537:S193C	S	-	1	0	OR5B21	58031578	0.001000	0.12720	0.041000	0.18516	0.126000	0.20510	0.641000	0.24720	1.010000	0.39314	-0.363000	0.07495	AGC		0.463	OR5B21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394891.1	NM_001005218		12	46	0	0	0	0.001855	0	12	46				
MPEG1	219972	broad.mit.edu	37	11	58979381	58979381	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:58979381G>T	ENST00000361050.3	-	1	1043	c.958C>A	c.(958-960)Cct>Act	p.P320T	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	320	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.					integral component of membrane (GO:0016021)		p.P320T(2)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GGCAAGTCAGGTAGCATGTTG	0.557																																							uc001nnu.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(958-960)CCT>ACT		macrophage expressed gene 1 precursor							43.0	42.0	42.0					11																	58979381		1909	4107	6016	SO:0001583	missense	219972					integral to membrane		g.chr11:58979381G>T	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.958C>A	11.37:g.58979381G>T	ENSP00000354335:p.Pro320Thr						p.P320T	NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN			1	1114	-		all_epithelial(135;0.125)	320			MACPF.|Extracellular (Potential).		Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	c.958C>A	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.773622	0.69992	.	.	ENSG00000197629	ENST00000361050	T	0.48522	0.81	5.53	5.53	0.82687	Membrane attack complex component/perforin (MACPF) domain (3);	0.059308	0.64402	D	0.000002	T	0.71476	0.3344	M	0.83483	2.645	0.53005	D	0.999962	D	0.89917	1.0	D	0.80764	0.994	T	0.75422	-0.3323	10	0.72032	D	0.01	-17.5786	16.3786	0.83431	0.0:0.0:1.0:0.0	.	320	Q2M385	MPEG1_HUMAN	T	320	ENSP00000354335:P320T	ENSP00000354335:P320T	P	-	1	0	MPEG1	58735957	1.000000	0.71417	0.759000	0.31340	0.726000	0.41606	5.741000	0.68638	2.616000	0.88540	0.655000	0.94253	CCT		0.557	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		46	76	1	0	6.08268e-21	0.00361	9.76807e-21	46	76				
TSGA10IP	254187	broad.mit.edu	37	11	65715521	65715521	+	RNA	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:65715521C>T	ENST00000532620.1	+	0	1284				TSGA10IP_ENST00000608857.1_RNA			Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein									p.S321S(1)		endometrium(2)|kidney(3)|lung(9)	14						TCCAGGCCTCCAAGCGGAATG	0.597																																							uc001ogk.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1051-1053)TCC>TCT		testis specific, 10 interacting protein							23.0	24.0	24.0					11																	65715521		1919	4110	6029			254187							g.chr11:65715521C>T	AK057442	CCDS66138.1	11q13.1	2014-03-25			ENSG00000175513	ENSG00000175513			26555	protein-coding gene	gene with protein product						14702039	Standard	NM_152762		Approved	FLJ32880, FAM161C	uc001ogk.1	Q3SY00	OTTHUMG00000166753		11.37:g.65715521C>T						TSGA10IP_uc009yqw.1_Intron|TSGA10IP_uc009yqx.1_Intron	p.S351S	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN			6	1085	+			351					Q3SXZ9|Q3SY01|Q96M26	Silent	SNP	ENST00000532620.1	37	c.1053C>T																																																																																					0.597	TSGA10IP-001	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000391373.2	NM_152762		4	9	0	0	0	0.009096	0	4	9				
C2CD3	26005	broad.mit.edu	37	11	73768561	73768561	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:73768561C>T	ENST00000334126.7	-	25	5206	c.4980G>A	c.(4978-4980)tcG>tcA	p.S1660S	C2CD3_ENST00000313663.7_Silent_p.S1660S			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1660	C2 2.				brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.S1660S(4)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AACTGGGTATCGATACTTTCC	0.448																																							uc001ouu.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(4)|pancreas(2)|skin(1)	7						c.(4978-4980)TCG>TCA		C2 calcium-dependent domain containing 3							110.0	109.0	110.0					11																	73768561		2200	4293	6493	SO:0001819	synonymous_variant	26005					centrosome		g.chr11:73768561C>T	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.4980G>A	11.37:g.73768561C>T						C2CD3_uc001out.2_RNA	p.S1660S	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN			25	5207	-	Breast(11;4.16e-06)		1660			C2 2.		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Silent	SNP	ENST00000334126.7	37	c.4980G>A																																																																																					0.448	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		12	96	0	0	0	0.010729	0	12	96				
CCDC89	220388	broad.mit.edu	37	11	85396473	85396473	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:85396473T>A	ENST00000316398.3	-	1	847	c.701A>T	c.(700-702)cAg>cTg	p.Q234L	CREBZF_ENST00000534224.1_5'Flank|CREBZF_ENST00000531515.1_5'Flank	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	234						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q234L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CTTGAGGGTCTGCAGCTGGCT	0.647																																							uc001pau.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(700-702)CAG>CTG		coiled-coil domain containing 89							57.0	57.0	57.0					11																	85396473		2203	4299	6502	SO:0001583	missense	220388					cytoplasm|nucleus		g.chr11:85396473T>A	AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.701A>T	11.37:g.85396473T>A	ENSP00000320649:p.Gln234Leu						p.Q234L	NM_152723	NP_689936	Q8N998	CCD89_HUMAN			1	848	-		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	234			Potential.			Missense_Mutation	SNP	ENST00000316398.3	37	c.701A>T	CCDS8270.1	.	.	.	.	.	.	.	.	.	.	T	11.90	1.775855	0.31411	.	.	ENSG00000179071	ENST00000316398	.	.	.	5.8	4.65	0.58169	.	0.474098	0.22478	N	0.059531	T	0.50103	0.1596	M	0.73598	2.24	0.38209	D	0.940401	P	0.45474	0.859	B	0.39465	0.3	T	0.55805	-0.8083	8	.	.	.	-10.3927	8.963	0.35858	0.0:0.0668:0.1261:0.8071	.	234	Q8N998	CCD89_HUMAN	L	234	.	.	Q	-	2	0	CCDC89	85074121	0.994000	0.37717	0.985000	0.45067	0.147000	0.21601	2.629000	0.46485	0.997000	0.38969	0.533000	0.62120	CAG		0.647	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1	NM_152723		19	101	0	0	0	0.003954	0	19	101				
GRM5	2915	broad.mit.edu	37	11	88337916	88337916	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:88337916A>G	ENST00000305447.4	-	4	1513	c.1364T>C	c.(1363-1365)cTa>cCa	p.L455P	GRM5_ENST00000393297.1_Missense_Mutation_p.L455P|GRM5_ENST00000455756.2_Missense_Mutation_p.L455P|GRM5_ENST00000305432.5_Missense_Mutation_p.L455P|GRM5_ENST00000418177.2_Missense_Mutation_p.L455P	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	455					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.L455P(4)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CTCATCGAATAGGATCGTATC	0.433																																							uc001pcq.2		NA																	4	Substitution - Missense(4)		lung(4)	central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(1363-1365)CTA>CCA		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						57.0	59.0	58.0					11																	88337916		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88337916A>G	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1364T>C	11.37:g.88337916A>G	ENSP00000306138:p.Leu455Pro					GRM5_uc009yvm.2_Missense_Mutation_p.L455P	p.L455P	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			4	1564	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	455			Extracellular (Potential).		Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.1364T>C	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	A	15.33	2.800642	0.50315	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84	5.77	5.77	0.91146	Extracellular ligand-binding receptor (1);	0.217094	0.40144	N	0.001168	D	0.83008	0.5161	L	0.42245	1.32	0.54753	D	0.999988	P;P	0.47484	0.797;0.896	P;P	0.49887	0.468;0.625	T	0.81693	-0.0817	9	.	.	.	.	8.4735	0.32999	0.8552:0.0:0.1448:0.0	.	455;455	P41594-2;P41594	.;GRM5_HUMAN	P	455	ENSP00000402912:L455P;ENSP00000405690:L455P;ENSP00000305905:L455P;ENSP00000306138:L455P;ENSP00000376975:L455P	.	L	-	2	0	GRM5	87977564	0.937000	0.31787	1.000000	0.80357	0.871000	0.50021	2.041000	0.41213	2.207000	0.71202	0.366000	0.22137	CTA		0.433	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		33	51	0	0	0	0.012213	0	33	51				
NAALAD2	10003	broad.mit.edu	37	11	89891342	89891342	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:89891342G>T	ENST00000534061.1	+	7	1056	c.826G>T	c.(826-828)Gga>Tga	p.G276*	NAALAD2_ENST00000525171.1_Intron|NAALAD2_ENST00000321955.4_Nonsense_Mutation_p.G276*|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	276	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)	p.G276*(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TGTTGAAGAAGGAGTGGGAAT	0.313																																							uc001pdf.3		NA																	2	Substitution - Nonsense(2)		lung(2)	pancreas(1)|skin(1)	2						c.(826-828)GGA>TGA		N-acetylated alpha-linked acidic dipeptidase 2							113.0	119.0	117.0					11																	89891342		2201	4299	6500	SO:0001587	stop_gained	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89891342G>T	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.826G>T	11.37:g.89891342G>T	ENSP00000432481:p.Gly276*					NAALAD2_uc009yvx.2_Nonsense_Mutation_p.G276*|NAALAD2_uc009yvy.2_Intron|NAALAD2_uc001pdd.2_Nonsense_Mutation_p.G276*|NAALAD2_uc001pde.2_Intron	p.G276*	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN			7	935	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	276			Extracellular (Potential).|NAALADase.		B3KQR4|Q4KKV4|Q4VAM9	Nonsense_Mutation	SNP	ENST00000534061.1	37	c.826G>T	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	G	38	7.089289	0.98055	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	.	.	.	5.13	5.13	0.70059	.	0.154695	0.44688	D	0.000428	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.9264	19.0013	0.92836	0.0:0.0:1.0:0.0	.	.	.	.	X	276	.	.	G	+	1	0	NAALAD2	89530990	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.046000	0.93817	2.572000	0.86782	0.580000	0.79431	GGA		0.313	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		84	185	1	0	5.70515e-31	0.00361	1.03834e-30	84	185				
NAALAD2	10003	broad.mit.edu	37	11	89896515	89896515	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:89896515G>T	ENST00000534061.1	+	10	1343	c.1113G>T	c.(1111-1113)tgG>tgT	p.W371C	NAALAD2_ENST00000525171.1_Missense_Mutation_p.W278C|NAALAD2_ENST00000321955.4_Missense_Mutation_p.W338C|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	371	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)	p.W371C(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GGGACTCCTGGGTATTTGGAG	0.383																																							uc001pdf.3		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)|skin(1)	2						c.(1111-1113)TGG>TGT		N-acetylated alpha-linked acidic dipeptidase 2							119.0	127.0	124.0					11																	89896515		2201	4299	6500	SO:0001583	missense	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89896515G>T	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1113G>T	11.37:g.89896515G>T	ENSP00000432481:p.Trp371Cys					NAALAD2_uc009yvx.2_Missense_Mutation_p.W338C|NAALAD2_uc009yvy.2_Intron|NAALAD2_uc001pde.2_Missense_Mutation_p.W278C	p.W371C	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN			10	1222	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	371			Extracellular (Potential).|NAALADase.		B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	c.1113G>T	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297203	0.81025	.	.	ENSG00000077616	ENST00000534061;ENST00000321955;ENST00000525171	T;T;T	0.45276	0.9;0.9;0.9	5.51	5.51	0.81932	Peptidase M28 (1);	0.000000	0.64402	D	0.000001	T	0.79227	0.4410	H	0.97852	4.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86752	0.1961	9	.	.	.	-6.046	19.3895	0.94574	0.0:0.0:1.0:0.0	.	371;278	Q9Y3Q0;E9PKX5	NALD2_HUMAN;.	C	371;338;278	ENSP00000432481:W371C;ENSP00000320083:W338C;ENSP00000435249:W278C	.	W	+	3	0	NAALAD2	89536163	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.831000	0.92068	2.746000	0.94184	0.591000	0.81541	TGG		0.383	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		42	258	1	0	1.34996e-11	0.009718	1.85196e-11	42	258				
FAT3	120114	broad.mit.edu	37	11	92531657	92531657	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:92531657G>T	ENST00000298047.6	+	9	5495	c.5478G>T	c.(5476-5478)gtG>gtT	p.V1826V	FAT3_ENST00000409404.2_Silent_p.V1826V|FAT3_ENST00000525166.1_Silent_p.V1676V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1826	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V1826V(4)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTTTCACGGTGGACTCCAGTA	0.488										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(4)|pancreas(1)	5						c.(5476-5478)GTG>GTT		FAT tumor suppressor homolog 3							49.0	47.0	48.0					11																	92531657		1949	4155	6104	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92531657G>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5478G>T	11.37:g.92531657G>T		TCGA Ovarian(4;0.039)					p.V1826V	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	5495	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1826			Cadherin 16.|Extracellular (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.5478G>T																																																																																					0.488	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		16	31	1	0	2.32078e-09	0.003163	2.96063e-09	16	31				
FAT3	120114	broad.mit.edu	37	11	92534270	92534270	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:92534270C>G	ENST00000298047.6	+	9	8108	c.8091C>G	c.(8089-8091)caC>caG	p.H2697Q	FAT3_ENST00000409404.2_Missense_Mutation_p.H2697Q|FAT3_ENST00000525166.1_Missense_Mutation_p.H2547Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2697	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H2697Q(4)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCTATATCCACGTCTTGCCCC	0.458										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(4)|pancreas(1)	5						c.(8089-8091)CAC>CAG		FAT tumor suppressor homolog 3							69.0	66.0	67.0					11																	92534270		1951	4148	6099	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92534270C>G	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8091C>G	11.37:g.92534270C>G	ENSP00000298047:p.His2697Gln	TCGA Ovarian(4;0.039)					p.H2697Q	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	8108	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2697			Cadherin 24.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.8091C>G		.	.	.	.	.	.	.	.	.	.	C	9.343	1.063547	0.20067	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.49432	0.78;0.78;0.78	6.08	-2.17	0.07059	.	.	.	.	.	T	0.43942	0.1270	N	0.17278	0.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.40496	-0.9560	9	0.09338	T	0.73	.	12.3187	0.54973	0.0:0.3445:0.0:0.6555	.	2697	Q8TDW7-3	.	Q	2697;2697;2547	ENSP00000298047:H2697Q;ENSP00000387040:H2697Q;ENSP00000432586:H2547Q	ENSP00000298047:H2697Q	H	+	3	2	FAT3	92173918	0.287000	0.24315	0.983000	0.44433	0.981000	0.71138	-0.350000	0.07721	-0.258000	0.09446	0.591000	0.81541	CAC		0.458	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		16	35	0	0	0	0.006122	0	16	35				
DYNC2H1	79659	broad.mit.edu	37	11	103229014	103229014	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:103229014G>T	ENST00000375735.2	+	83	12227	c.12083G>T	c.(12082-12084)gGt>gTt	p.G4028V	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.G4035V	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4028					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)	p.G1468V(2)		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)		ATAACAGCTGGTTCCAAATTT	0.353																																							uc001pho.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(12082-12084)GGT>GTT		dynein, cytoplasmic 2, heavy chain 1							92.0	76.0	81.0					11																	103229014		1813	4078	5891	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.chr11:103229014G>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.12083G>T	11.37:g.103229014G>T	ENSP00000364887:p.Gly4028Val					DYNC2H1_uc001phn.1_Missense_Mutation_p.G4035V|DYNC2H1_uc009yxe.1_Intron	p.G4028V	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	83	12227	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	4028					O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.12083G>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678027	0.47886	.	.	ENSG00000187240	ENST00000375735;ENST00000398093;ENST00000540621;ENST00000533197	T;T;T	0.44881	2.92;2.92;0.91	5.44	5.44	0.79542	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.42359	0.1199	L	0.50333	1.59	0.80722	D	1	B;B	0.18166	0.026;0.021	B;B	0.18263	0.017;0.021	T	0.28396	-1.0045	10	0.56958	D	0.05	.	18.0292	0.89278	0.0:0.0:1.0:0.0	.	4028;4035	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	V	4028;4035;274;15	ENSP00000364887:G4028V;ENSP00000381167:G4035V;ENSP00000436736:G15V	ENSP00000364887:G4028V	G	+	2	0	DYNC2H1	102734224	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.161000	0.77505	2.555000	0.86185	0.561000	0.74099	GGT		0.353	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		9	8	1	0	6.40141e-05	0.010729	7.0896e-05	9	8				
CARD16	114769	broad.mit.edu	37	11	104912157	104912157	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:104912157C>A	ENST00000375706.2	-	3	581	c.564G>T	c.(562-564)gaG>gaT	p.E188D	CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000415981.2_Intron	NM_001017534.1	NP_001017534.1	Q5EG05	CAR16_HUMAN	caspase recruitment domain family, member 16	188					regulation of apoptotic process (GO:0042981)		cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.E188D(2)		endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						CAGTTTGCAACTCTTTACCTA	0.383																																							uc001pip.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(562-564)GAG>GAT		caspase-1 dominant-negative inhibitor pseudo-ICE							70.0	74.0	73.0					11																	104912157		2202	4299	6501	SO:0001583	missense	114769				regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity	g.chr11:104912157C>A		CCDS31661.1, CCDS41705.1	11q23	2008-09-15				ENSG00000204397			33701	protein-coding gene	gene with protein product		615680				11432859, 11536016	Standard	NM_052889		Approved	COP1, COP, PSEUDO-ICE		Q5EG05		ENST00000375706.2:c.564G>T	11.37:g.104912157C>A	ENSP00000364858:p.Glu188Asp					CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CARD16_uc001pio.1_3'UTR	p.E188D	NM_001017534	NP_001017534	Q5EG05	CAR16_HUMAN			3	591	-			188					Q96RJ9	Missense_Mutation	SNP	ENST00000375706.2	37	c.564G>T	CCDS31661.1	.	.	.	.	.	.	.	.	.	.	.	6.951	0.545307	0.13312	.	.	ENSG00000204397	ENST00000375706	T	0.19394	2.15	1.14	-2.27	0.06846	.	0.114938	0.56097	U	0.000024	T	0.09818	0.0241	N	0.22421	0.69	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.12167	-1.0558	10	0.87932	D	0	.	1.9964	0.03457	0.2604:0.3323:0.0:0.4074	.	188	Q5EG05	CAR16_HUMAN	D	188	ENSP00000364858:E188D	ENSP00000364858:E188D	E	-	3	2	CARD16	104417367	0.000000	0.05858	0.001000	0.08648	0.071000	0.16799	-0.764000	0.04735	-1.140000	0.02877	0.305000	0.20034	GAG		0.383	CARD16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388147.1			33	86	1	0	1.36239e-07	0.003271	1.64572e-07	33	86				
TECTA	7007	broad.mit.edu	37	11	120983847	120983847	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:120983847G>C	ENST00000392793.1	+	5	824	c.553G>C	c.(553-555)Gaa>Caa	p.E185Q	TECTA_ENST00000264037.2_Missense_Mutation_p.E185Q			O75443	TECTA_HUMAN	tectorin alpha	185	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.E185Q(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)		CAATTATTACGAAATCAACTG	0.572											OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc010rzo.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(6)|ovary(2)|skin(2)	10						c.(553-555)GAA>CAA		tectorin alpha precursor							99.0	87.0	91.0					11																	120983847		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120983847G>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.553G>C	11.37:g.120983847G>C	ENSP00000376543:p.Glu185Gln		OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1508		p.E185Q	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	4	553	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	185			NIDO.			Missense_Mutation	SNP	ENST00000392793.1	37	c.553G>C	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610620	0.66558	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.73152	-0.72;-0.72	5.37	5.37	0.77165	Nidogen, extracellular domain (3);	0.118206	0.56097	D	0.000031	T	0.66915	0.2838	L	0.45137	1.4	0.45118	D	0.998138	B	0.26512	0.151	B	0.28784	0.094	T	0.62300	-0.6883	10	0.37606	T	0.19	.	19.3137	0.94202	0.0:0.0:1.0:0.0	.	185	O75443	TECTA_HUMAN	Q	185	ENSP00000376543:E185Q;ENSP00000264037:E185Q	ENSP00000264037:E185Q	E	+	1	0	TECTA	120489057	1.000000	0.71417	0.968000	0.41197	0.585000	0.36419	5.383000	0.66219	2.788000	0.95919	0.650000	0.86243	GAA		0.572	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		39	65	0	0	0	0.00361	0	39	65				
Unknown	0	broad.mit.edu	37	11	124095613	124095613	+	IGR	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:124095613G>T								OR10D3 (38661 upstream) : OR8G1 (24809 downstream)																							ATACCCCCATGTACTATTTCC	0.463																																							uc010saf.1		NA																	0					0						c.(214-216)ATG>ATT		olfactory receptor, family 8, subfamily G,							165.0	165.0	165.0					11																	124095613		2126	4269	6395	SO:0001628	intergenic_variant	26492					integral to membrane	olfactory receptor activity	g.chr11:124095613G>T																													11.37:g.124095613G>T							p.M72I	NM_001007249	NP_001007250	Q15614	OR8G2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	216	+		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	72						Missense_Mutation	SNP		37	c.216G>T																																																																																				0	0.463									29	256	1	0	3.73148e-12	0.007291	5.251e-12	29	256				
OR8B3	390271	broad.mit.edu	37	11	124266919	124266919	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:124266919G>T	ENST00000354597.3	-	1	345	c.329C>A	c.(328-330)tCt>tAt	p.S110Y		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S110Y(2)		kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		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;0.0277)		GTAACATTCAGAGATGACAAA	0.383																																							uc010saj.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(328-330)TCT>TAT		olfactory receptor, family 8, subfamily B,							80.0	75.0	77.0					11																	124266919		2201	4299	6500	SO:0001583	missense	390271				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124266919G>T	AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"""GPCR / Class A : Olfactory receptors"""	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.329C>A	11.37:g.124266919G>T	ENSP00000346611:p.Ser110Tyr					OR8B2_uc001qab.3_Intron	p.S110Y	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	329	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	110			Helical; Name=3; (Potential).		Q6IFQ8|Q8NGH1	Missense_Mutation	SNP	ENST00000354597.3	37	c.329C>A	CCDS31709.1	.	.	.	.	.	.	.	.	.	.	N	11.18	1.563275	0.27915	.	.	ENSG00000196661	ENST00000354597	T	0.00922	5.54	3.49	2.54	0.30619	GPCR, rhodopsin-like superfamily (1);	0.110656	0.41396	D	0.000900	T	0.05181	0.0138	M	0.87456	2.885	0.09310	N	1	D	0.71674	0.998	D	0.63033	0.91	T	0.03287	-1.1052	10	0.87932	D	0	.	12.4151	0.55490	0.0:0.0:0.8299:0.17	.	110	Q8NGG8	OR8B3_HUMAN	Y	110	ENSP00000346611:S110Y	ENSP00000346611:S110Y	S	-	2	0	OR8B3	123772129	0.000000	0.05858	0.998000	0.56505	0.367000	0.29736	-0.381000	0.07417	0.991000	0.38814	0.637000	0.83480	TCT		0.383	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387291.1	NM_001005467		31	48	1	0	2.49534e-26	0.010818	4.27103e-26	31	48				
OR8A1	390275	broad.mit.edu	37	11	124440930	124440930	+	Missense_Mutation	SNP	G	G	T	rs145520583		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:124440930G>T	ENST00000284287.3	+	1	1038	c.966G>T	c.(964-966)agG>agT	p.R322S		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	322					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R322S(2)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		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;0.0214)		AAACGCTGAGGGGTAAACTGT	0.443																																							uc010san.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(964-966)AGG>AGT		olfactory receptor, family 8, subfamily A,							58.0	52.0	54.0					11																	124440930		2201	4299	6500	SO:0001583	missense	390275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124440930G>T	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"""GPCR / Class A : Olfactory receptors"""	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.966G>T	11.37:g.124440930G>T	ENSP00000284287:p.Arg322Ser						p.R322S	NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	1	966	+		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	322			Cytoplasmic (Potential).		Q6IEW7|Q96RC6	Missense_Mutation	SNP	ENST00000284287.3	37	c.966G>T	CCDS31712.1	.	.	.	.	.	.	.	.	.	.	G	0.100	-1.153608	0.01700	.	.	ENSG00000196119	ENST00000284287	T	0.37584	1.19	3.68	0.798	0.18660	.	0.445200	0.18954	N	0.126594	T	0.18759	0.0450	N	0.21373	0.66	0.09310	N	1	B	0.15473	0.013	B	0.14578	0.011	T	0.28170	-1.0052	10	0.10377	T	0.69	.	7.5589	0.27839	0.2735:0.0:0.7265:0.0	.	322	Q8NGG7	OR8A1_HUMAN	S	322	ENSP00000284287:R322S	ENSP00000284287:R322S	R	+	3	2	OR8A1	123946140	0.000000	0.05858	0.033000	0.17914	0.019000	0.09904	-0.120000	0.10660	0.173000	0.19788	0.637000	0.83480	AGG		0.443	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1	NM_001005194		21	66	1	0	5.26018e-13	0.001882	7.49884e-13	21	66				
PIANP	196500	broad.mit.edu	37	12	6804697	6804697	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:6804697G>A	ENST00000540656.1	-	5	1064	c.726C>T	c.(724-726)ttC>ttT	p.F242F	PIANP_ENST00000534837.1_Silent_p.F242F|PIANP_ENST00000320591.5_Silent_p.F242F	NM_001244015.1	NP_001230944.1	Q8IYJ0	PIANP_HUMAN	PILR alpha associated neural protein	242						integral component of membrane (GO:0016021)		p.F242F(2)									GTGAGTCCCCGAAGGCCCCCA	0.692																																							uc001qqf.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(724-726)TTC>TTT		hypothetical protein LOC196500 precursor							32.0	34.0	34.0					12																	6804697		1949	4130	6079	SO:0001819	synonymous_variant	196500					integral to membrane		g.chr12:6804697G>A	BC035736	CCDS44818.1, CCDS58205.1	12p13.31	2012-08-17	2012-08-17	2012-08-17	ENSG00000139200	ENSG00000139200			25338	protein-coding gene	gene with protein product	"""PILR-associating neural protein"""		"""chromosome 12 open reading frame 53"""	C12orf53		12975309	Standard	NM_153685		Approved	DKFZp547D2210, PANP	uc001qqf.2	Q8IYJ0	OTTHUMG00000168664	ENST00000540656.1:c.726C>T	12.37:g.6804697G>A						C12orf53_uc001qqg.1_Silent_p.F242F	p.F242F	NM_153685	NP_710152	Q8IYJ0	CL053_HUMAN			5	802	-			242			Cytoplasmic (Potential).		A8K0T3|B3KPF7|B3KRI6|Q6UX35	Silent	SNP	ENST00000540656.1	37	c.726C>T	CCDS44818.1																																																																																				0.692	PIANP-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400524.1	NM_153685		15	84	0	0	0	0.004007	0	15	84				
KIF21A	55605	broad.mit.edu	37	12	39734030	39734030	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:39734030C>A	ENST00000361418.5	-	16	2262	c.2247G>T	c.(2245-2247)caG>caT	p.Q749H	KIF21A_ENST00000361961.3_Missense_Mutation_p.Q736H|KIF21A_ENST00000395670.3_Missense_Mutation_p.Q749H|KIF21A_ENST00000541463.2_Missense_Mutation_p.Q736H|KIF21A_ENST00000544797.2_Missense_Mutation_p.Q736H			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	749					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q736H(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CATACTGAGACTGATTTTTAA	0.338																																							uc001rly.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(2245-2247)CAG>CAT		kinesin family member 21A							138.0	122.0	127.0					12																	39734030		2203	4299	6502	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39734030C>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.2247G>T	12.37:g.39734030C>A	ENSP00000354878:p.Gln749His					KIF21A_uc001rlw.2_Missense_Mutation_p.Q66H|KIF21A_uc001rlx.2_Missense_Mutation_p.Q736H|KIF21A_uc001rlz.2_Missense_Mutation_p.Q736H|KIF21A_uc010skl.1_Missense_Mutation_p.Q736H	p.Q749H	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			16	2393	-		Lung NSC(34;0.179)|all_lung(34;0.213)	749					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.2247G>T	CCDS53776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.80|16.80	3.221909|3.221909	0.58560|0.58560	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463|ENST00000552961	T;T;T;T;T|.	0.19938|.	2.11;2.11;2.11;2.11;2.11|.	5.37|5.37	2.17|2.17	0.27698|0.27698	.|.	0.000000|.	0.51477|.	D|.	0.000096|.	T|T	0.71230|0.71230	0.3315|0.3315	M|M	0.79123|0.79123	2.44|2.44	0.47949|0.47949	D|D	0.999555|0.999555	D;D;P;D;D|.	0.76494|.	0.998;0.998;0.609;0.998;0.999|.	D;D;B;D;D|.	0.91635|.	0.994;0.994;0.387;0.994;0.999|.	T|T	0.70666|0.70666	-0.4809|-0.4809	10|5	0.87932|.	D|.	0|.	.|.	10.9554|10.9554	0.47354|0.47354	0.0:0.6787:0.0:0.3213|0.0:0.6787:0.0:0.3213	.|.	736;736;749;736;749|.	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3|.	.;.;KI21A_HUMAN;.;.|.	H|I	736;749;749;736;749;736|97	ENSP00000354851:Q736H;ENSP00000379029:Q749H;ENSP00000445606:Q736H;ENSP00000354878:Q749H;ENSP00000438075:Q736H|.	ENSP00000344501:Q749H|.	Q|S	-|-	3|2	2|0	KIF21A|KIF21A	38020297|38020297	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	1.528000|1.528000	0.35985|0.35985	0.655000|0.655000	0.30866|0.30866	-0.150000|-0.150000	0.13652|0.13652	CAG|AGT		0.338	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		15	33	1	0	4.7546e-09	0.004007	5.99541e-09	15	33				
LIMA1	51474	broad.mit.edu	37	12	50586248	50586249	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:50586248_50586249GG>AT	ENST00000341247.4	-	9	1275_1276	c.1126_1127CC>AT	c.(1126-1128)CCc>ATc	p.P376I	RP3-405J10.3_ENST00000552061.1_RNA|LIMA1_ENST00000552909.1_Missense_Mutation_p.P216I|LIMA1_ENST00000552491.1_Missense_Mutation_p.P74I|LIMA1_ENST00000552783.1_Missense_Mutation_p.P217I|LIMA1_ENST00000552823.1_Missense_Mutation_p.P216I|LIMA1_ENST00000547825.1_Missense_Mutation_p.P74I|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000394943.3_Missense_Mutation_p.P377I	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	376					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)	p.P376I(2)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CATTGCTTTGGGAGGAGAACTT	0.446																																							uc001rwj.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1126-1128)CCC>ATC		LIM domain and actin binding 1 isoform b																																				SO:0001583	missense	51474				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	g.chr12:50586248_50586249GG>AT	AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.1126_1127delinsAT	12.37:g.50586248_50586249delinsAT	ENSP00000340184:p.Pro376Ile					LIMA1_uc001rwg.3_Missense_Mutation_p.P74I|LIMA1_uc001rwh.3_Missense_Mutation_p.P216I|LIMA1_uc001rwi.3_Missense_Mutation_p.P217I|LIMA1_uc001rwk.3_Missense_Mutation_p.P377I|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	p.P376I	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN			9	1300_1301	-			376					B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	DNP	ENST00000341247.4	37	c.1126_1127CC>AT	CCDS8802.1																																																																																				0.446	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		31	95	0	0	0	0.004672	0	31	95				
ANKRD33	341405	broad.mit.edu	37	12	52282950	52282950	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:52282950G>T	ENST00000340970.4	+	3	462	c.91G>T	c.(91-93)Gac>Tac	p.D31Y	ANKRD33_ENST00000538991.1_Intron|ANKRD33_ENST00000301190.6_Missense_Mutation_p.D166Y|ANKRD33_ENST00000547119.1_3'UTR			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	31					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.D166Y(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CAAAGGAGGGGACACGGCCCT	0.612																																							uc001rzf.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(91-93)GAC>TAC		ankyrin repeat domain 33 isoform 1							123.0	112.0	115.0					12																	52282950		2203	4300	6503	SO:0001583	missense	341405							g.chr12:52282950G>T		CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"""Ankyrin repeat domain containing"""	13788	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 7"""	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.91G>T	12.37:g.52282950G>T	ENSP00000344690:p.Asp31Tyr					ANKRD33_uc001rzh.3_3'UTR|ANKRD33_uc001rzd.2_Missense_Mutation_p.D166Y|ANKRD33_uc001rze.2_Missense_Mutation_p.D31Y|ANKRD33_uc001rzg.3_Intron|ANKRD33_uc001rzi.3_Missense_Mutation_p.D31Y	p.D31Y	NM_001130015	NP_001123487	Q7Z3H0	ANR33_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0969)	3	670	+			31			ANK 1.		Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Missense_Mutation	SNP	ENST00000340970.4	37	c.91G>T	CCDS44892.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.876586	0.33162	.	.	ENSG00000167612	ENST00000301190;ENST00000340970	T;T	0.63580	-0.05;-0.05	4.08	0.705	0.18127	Ankyrin repeat-containing domain (4);	0.195954	0.42682	D	0.000678	T	0.53029	0.1771	N	0.10916	0.065	0.80722	D	1	D;D	0.65815	0.995;0.983	D;P	0.63283	0.913;0.789	T	0.49862	-0.8894	10	0.41790	T	0.15	-1.2119	7.3652	0.26768	0.3073:0.0:0.6927:0.0	.	31;166	Q7Z3H0;Q7Z3H0-2	ANR33_HUMAN;.	Y	166;31	ENSP00000301190:D166Y;ENSP00000344690:D31Y	ENSP00000301190:D166Y	D	+	1	0	ANKRD33	50569217	0.991000	0.36638	0.946000	0.38457	0.300000	0.27592	2.575000	0.46025	0.023000	0.15187	-0.379000	0.06801	GAC		0.612	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404515.1	NM_182608		13	127	1	0	0.000219431	0.00245	0.000237717	13	127				
KRT82	3888	broad.mit.edu	37	12	52788890	52788890	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:52788890C>A	ENST00000257974.2	-	9	1488	c.1411G>T	c.(1411-1413)Ggc>Tgc	p.G471C	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	471	Tail.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)	p.G471C(2)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		ATGCTGCAGCCCCCATTGCTC	0.632																																							uc001sai.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1411-1413)GGC>TGC		keratin 82							57.0	51.0	53.0					12																	52788890		2203	4300	6503	SO:0001583	missense	3888					keratin filament	protein binding|structural constituent of epidermis	g.chr12:52788890C>A	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.1411G>T	12.37:g.52788890C>A	ENSP00000257974:p.Gly471Cys						p.G471C	NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.193)	9	1526	-			471			Tail.			Missense_Mutation	SNP	ENST00000257974.2	37	c.1411G>T	CCDS8826.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.752965	0.49362	.	.	ENSG00000161850	ENST00000257974	D	0.85556	-2.0	4.73	1.85	0.25348	.	0.550875	0.15344	N	0.267372	T	0.71702	0.3371	N	0.08118	0	0.31319	N	0.686261	P	0.47604	0.898	P	0.44623	0.455	T	0.71862	-0.4464	10	0.52906	T	0.07	.	8.3876	0.32510	0.0:0.7244:0.0:0.2756	.	471	Q9NSB4	KRT82_HUMAN	C	471	ENSP00000257974:G471C	ENSP00000257974:G471C	G	-	1	0	KRT82	51075157	0.002000	0.14202	0.978000	0.43139	0.511000	0.34104	-0.020000	0.12525	0.544000	0.28883	0.561000	0.74099	GGC		0.632	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	NM_033033		9	75	1	0	0.000673444	0.008291	0.000718165	9	75				
KRT6A	3853	broad.mit.edu	37	12	52885417	52885417	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:52885417T>C	ENST00000330722.6	-	2	712	c.644A>G	c.(643-645)gAg>gGg	p.E215G		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	215	Linker 1.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GATGTACTGCTCGAACAACGG	0.597																																							uc001sam.2		NA																	0				ovary(4)|skin(1)	5						c.(643-645)GAG>GGG		keratin 6A							106.0	104.0	105.0					12																	52885417		2203	4300	6503	SO:0001583	missense	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52885417T>C	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.644A>G	12.37:g.52885417T>C	ENSP00000369317:p.Glu215Gly						p.E215G	NM_005554	NP_005545	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	853	-			215			Rod.|Linker 1.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	c.644A>G	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	t	32	5.169183	0.94768	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	T	0.77229	-1.08	5.26	5.26	0.73747	Filament (1);	0.101790	0.43110	D	0.000608	D	0.91379	0.7280	H	0.95260	3.645	0.53688	D	0.999977	D	0.76494	0.999	D	0.79784	0.993	D	0.93833	0.7129	10	0.72032	D	0.01	.	15.478	0.75501	0.0:0.0:0.0:1.0	.	215	P02538	K2C6A_HUMAN	G	215;171	ENSP00000369317:E215G	ENSP00000369317:E215G	E	-	2	0	KRT6A	51171684	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	7.873000	0.87193	2.116000	0.64780	0.459000	0.35465	GAG		0.597	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		3	150	0	0	0	0.000602	0	3	150				
DDIT3	1649	broad.mit.edu	37	12	57910683	57910683	+	Missense_Mutation	SNP	C	C	A	rs377303534		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:57910683C>A	ENST00000346473.3	-	4	598	c.419G>T	c.(418-420)cGg>cTg	p.R140L	DDIT3_ENST00000552740.1_Missense_Mutation_p.R163L|RN7SL312P_ENST00000582079.1_RNA|MIR616_ENST00000385293.1_RNA|DDIT3_ENST00000547303.1_Missense_Mutation_p.R140L|DDIT3_ENST00000551116.1_Missense_Mutation_p.R163L	NM_001195057.1|NM_004083.5	NP_001181986.1|NP_004074.2	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	140	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|blood vessel maturation (GO:0001955)|cell cycle arrest (GO:0007050)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of determination of dorsal identity (GO:2000016)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|regulation of transcription, DNA-templated (GO:0006355)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to starvation (GO:0042594)|response to unfolded protein (GO:0006986)|Wnt signaling pathway (GO:0016055)	late endosome (GO:0005770)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.R140L(2)	EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						CTGCTTGAGCCGTTCATTCTC	0.537			T	FUS	liposarcoma																																GBM(112;1383 1547 7626 23045 28770)	GBM(112;1383 1547 7626 23045 28770)	uc001soi.2		NA		Dom	yes		12	12q13.1-q13.2	1649	T	DNA-damage-inducible transcript 3			M	FUS		liposarcoma	FUS/DDIT3(623)|EWSR1/DDIT3(43)	2	Substitution - Missense(2)		lung(2)	soft_tissue(666)|large_intestine(1)|central_nervous_system(1)|lung(1)|skin(1)|ovary(1)	671						c.(418-420)CGG>CTG		DNA-damage-inducible transcript 3							156.0	161.0	159.0					12																	57910683		2203	4300	6503	SO:0001583	missense	1649				cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding	g.chr12:57910683C>A	BC003637	CCDS8943.1, CCDS55838.1	12q13.1-q13.2	2008-02-05				ENSG00000175197			2726	protein-coding gene	gene with protein product	"""C/EBP zeta"""	126337				1990262	Standard	NM_001195053		Approved	CHOP10, GADD153, CHOP	uc021qzk.1	P35638		ENST00000346473.3:c.419G>T	12.37:g.57910683C>A	ENSP00000340671:p.Arg140Leu					MARS_uc001sof.1_Intron|DDIT3_uc009zps.2_Missense_Mutation_p.R163L|DDIT3_uc009zpt.2_Missense_Mutation_p.R163L	p.R140L	NM_004083	NP_004074	P35638	DDIT3_HUMAN			4	599	-			140			Leucine-zipper.		F8VS99	Missense_Mutation	SNP	ENST00000346473.3	37	c.419G>T	CCDS8943.1	.	.	.	.	.	.	.	.	.	.	C	32	5.105846	0.94292	.	.	ENSG00000175197	ENST00000547303;ENST00000551116;ENST00000346473;ENST00000552740	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.75	5.75	0.90469	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.213952	0.41396	D	0.000896	T	0.54822	0.1882	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.56631	-0.7947	10	0.87932	D	0	-11.7523	19.1016	0.93276	0.0:1.0:0.0:0.0	.	163;140	F8VS99;P35638	.;DDIT3_HUMAN	L	140;163;140;163	ENSP00000447188:R140L;ENSP00000448665:R163L;ENSP00000340671:R140L;ENSP00000447803:R163L	ENSP00000340671:R140L	R	-	2	0	DDIT3	56196950	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.209000	0.58493	2.894000	0.99253	0.655000	0.94253	CGG		0.537	DDIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407137.1	NM_004083		43	139	1	0	5.44703e-19	0.009718	8.57083e-19	43	139				
PPM1H	57460	broad.mit.edu	37	12	63083523	63083523	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:63083523C>A	ENST00000228705.6	-	8	1501	c.1201G>T	c.(1201-1203)Gac>Tac	p.D401Y	PPM1H_ENST00000551214.1_5'UTR	NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	401	PP2C-like.						phosphoprotein phosphatase activity (GO:0004721)	p.D401Y(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		ATGTTGGAGTCATGCACCTTC	0.458																																							uc001srk.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(1)	4						c.(1201-1203)GAC>TAC		protein phosphatase 1H (PP2C domain containing)							96.0	96.0	96.0					12																	63083523		1912	4152	6064	SO:0001583	missense	57460						phosphoprotein phosphatase activity	g.chr12:63083523C>A	AB032983	CCDS44934.1	12q14.1	2012-04-17	2010-03-05	2004-03-26	ENSG00000111110	ENSG00000111110	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	18583	protein-coding gene	gene with protein product	"""neurite extension-related protein phosphatase related to PP2C"""		"""ras homolog gene family, member C like 1"", ""protein phosphatase 1H (PP2C domain containing)"""	ARHCL1			Standard	NM_020700		Approved	KIAA1157, FLJ13253, NERPP-2C	uc001srk.3	Q9ULR3	OTTHUMG00000169990	ENST00000228705.6:c.1201G>T	12.37:g.63083523C>A	ENSP00000228705:p.Asp401Tyr						p.D401Y	NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)	8	1350	-			401			PP2C-like.		B1Q2A9|B2RXG4|Q6PI86	Missense_Mutation	SNP	ENST00000228705.6	37	c.1201G>T	CCDS44934.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006339	0.74932	.	.	ENSG00000111110	ENST00000228705	T	0.17213	2.29	5.72	5.72	0.89469	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.32133	0.0819	M	0.67569	2.06	0.80722	D	1	P	0.47106	0.89	P	0.48952	0.596	T	0.00787	-1.1566	9	.	.	.	-0.3412	19.8805	0.96895	0.0:1.0:0.0:0.0	.	401	Q9ULR3	PPM1H_HUMAN	Y	401	ENSP00000228705:D401Y	.	D	-	1	0	PPM1H	61369790	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.703000	0.54808	2.704000	0.92352	0.655000	0.94253	GAC		0.458	PPM1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406760.2	NM_020700		9	30	1	0	0.000978159	0.010729	0.00104108	9	30				
MDM1	56890	broad.mit.edu	37	12	68708818	68708819	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:68708818_68708819CC>AA	ENST00000303145.7	-	9	1494_1495	c.1408_1409GG>TT	c.(1408-1410)GGg>TTg	p.G470L	MDM1_ENST00000411698.2_Missense_Mutation_p.G435L|MDM1_ENST00000540418.1_Missense_Mutation_p.G190L	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	470					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)		p.G470L(2)|p.G470V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TTTCCTGTCCCCTTCCTCTTCA	0.495																																							uc001stz.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(3)|skin(2)	5						c.(1408-1410)GGG>TTG		mouse Mdm1 nuclear protein homolog isoform 1																																				SO:0001583	missense	56890					nucleus		g.chr12:68708818_68708819CC>AA	AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"""Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"""			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.1408_1409delinsAA	12.37:g.68708818_68708819delinsAA	ENSP00000302537:p.Gly470Leu					MDM1_uc010stc.1_Missense_Mutation_p.G435L|MDM1_uc009zqv.1_Missense_Mutation_p.G190L	p.G470L	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)	9	1544_1545	-			470					B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	DNP	ENST00000303145.7	37	c.1408_1409GG>TT	CCDS8983.1																																																																																				0.495	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128		44	331	0	0	0	0.004672	0	44	331				
FGD6	55785	broad.mit.edu	37	12	95602937	95602937	+	Missense_Mutation	SNP	C	C	A	rs373791249		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:95602937C>A	ENST00000343958.4	-	2	2346	c.2123G>T	c.(2122-2124)cGg>cTg	p.R708L	FGD6_ENST00000546711.1_Missense_Mutation_p.R708L|FGD6_ENST00000549499.1_Missense_Mutation_p.R708L|FGD6_ENST00000550368.1_5'Flank	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	708					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.R708L(2)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GGTCTGGCCCCGAGACTTCTT	0.478																																							uc001tdp.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)	3						c.(2122-2124)CGG>CTG		FYVE, RhoGEF and PH domain containing 6							98.0	106.0	103.0					12																	95602937		2203	4300	6503	SO:0001583	missense	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95602937C>A	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2123G>T	12.37:g.95602937C>A	ENSP00000344446:p.Arg708Leu					FGD6_uc009zsx.2_Intron	p.R708L	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN			2	2347	-			708					Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.2123G>T	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.247112	0.22796	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.69561	-0.31;-0.41;-0.33	6.04	4.21	0.49690	.	0.319664	0.22954	N	0.053628	T	0.57770	0.2076	L	0.47716	1.5	0.20403	N	0.9999	P	0.44090	0.826	B	0.38056	0.264	T	0.57376	-0.7822	10	0.66056	D	0.02	-0.5284	12.2194	0.54425	0.0:0.8637:0.0:0.1363	.	708	Q6ZV73	FGD6_HUMAN	L	708	ENSP00000344446:R708L;ENSP00000450342:R708L;ENSP00000449005:R708L	ENSP00000344446:R708L	R	-	2	0	FGD6	94127068	0.198000	0.23374	0.629000	0.29254	0.106000	0.19336	1.560000	0.36331	1.557000	0.49525	0.561000	0.74099	CGG		0.478	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		54	118	1	0	1.72184e-34	0.00361	3.20861e-34	54	118				
CFAP54	144535	broad.mit.edu	37	12	97052115	97052115	+	Silent	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:97052115T>C	ENST00000524981.4	+	38	5474	c.5451T>C	c.(5449-5451)taT>taC	p.Y1817Y				Q96N23	CL055_HUMAN		0								p.Y242Y(2)									AGGCTGAATATGGAGAGAAGG	0.378																																							uc001tet.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(6)|ovary(1)	7						c.(724-726)TAT>TAC		hypothetical protein LOC374467							129.0	131.0	130.0					12																	97052115		2203	4300	6503	SO:0001819	synonymous_variant	374467							g.chr12:97052115T>C																												ENST00000524981.4:c.5451T>C	12.37:g.97052115T>C							p.Y242Y	NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN			5	804	+			242						Silent	SNP	ENST00000524981.4	37	c.726T>C																																																																																					0.378	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			13	125	0	0	0	0.00245	0	13	125				
RASAL1	8437	broad.mit.edu	37	12	113553049	113553049	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:113553049G>C	ENST00000261729.5	-	12	1339	c.1024C>G	c.(1024-1026)Cgt>Ggt	p.R342G	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Missense_Mutation_p.R342G|RASAL1_ENST00000548055.1_Missense_Mutation_p.R342G|RASAL1_ENST00000546530.1_Missense_Mutation_p.R342G			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	342	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)	p.R342G(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GAGTTAGAACGGAAGAGGGTG	0.577																																							uc001tum.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(1024-1026)CGT>GGT		RAS protein activator like 1							186.0	191.0	190.0					12																	113553049		2203	4300	6503	SO:0001583	missense	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113553049G>C	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.1024C>G	12.37:g.113553049G>C	ENSP00000261729:p.Arg342Gly					RASAL1_uc010syp.1_Missense_Mutation_p.R342G|RASAL1_uc001tul.2_Missense_Mutation_p.R342G|RASAL1_uc001tun.1_Missense_Mutation_p.R342G|RASAL1_uc010syq.1_Missense_Mutation_p.R342G|RASAL1_uc001tuo.3_Missense_Mutation_p.R342G|RASAL1_uc010syr.1_Missense_Mutation_p.R342G	p.R342G	NM_004658	NP_004649	O95294	RASL1_HUMAN			12	1317	-			342			Ras-GAP.		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	c.1024C>G	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563896	0.86335	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	4.78	4.78	0.61160	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	T	0.78824	0.4344	H	0.96398	3.815	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.998;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999;0.986;1.0	D	0.86487	0.1795	10	0.87932	D	0	.	16.5796	0.84711	0.0:0.0:1.0:0.0	.	342;342;342;354;342;342;342	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	G	342	ENSP00000450244:R342G;ENSP00000261729:R342G;ENSP00000395920:R342G;ENSP00000448510:R342G	ENSP00000261729:R342G	R	-	1	0	RASAL1	112037432	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.103000	0.94232	2.205000	0.71048	0.491000	0.48974	CGT		0.577	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		64	148	0	0	0	0.00361	0	64	148				
FBXO21	23014	broad.mit.edu	37	12	117604777	117604777	+	Silent	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:117604777T>A	ENST00000330622.5	-	8	1118	c.1119A>T	c.(1117-1119)gcA>gcT	p.A373A	FBXO21_ENST00000427718.2_Silent_p.A373A			O94952	FBX21_HUMAN	F-box protein 21	373					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)	p.A373A(2)		breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		CATACAGTGCTGCAGTCACGT	0.478																																					GBM(168;452 2038 13535 17701 43680)	GBM(168;452 2038 13535 17701 43680)	uc001twk.2		NA																	2	Substitution - coding silent(2)		lung(2)	kidney(1)	1						c.(1117-1119)GCA>GCT		F-box only protein 21 isoform 1							213.0	180.0	191.0					12																	117604777		2203	4300	6503	SO:0001819	synonymous_variant	23014				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr12:117604777T>A	AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"""F-boxes /  ""other"""""	13592	protein-coding gene	gene with protein product		609095	"""F-box only protein 21"""			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.1119A>T	12.37:g.117604777T>A						FBXO21_uc001twj.2_Silent_p.A373A|FBXO21_uc009zwq.2_Intron|FBXO21_uc001twl.1_5'UTR	p.A373A	NM_033624	NP_296373	O94952	FBX21_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0291)	8	1158	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		373					B3KMF0|Q5BJG0|Q9H087	Silent	SNP	ENST00000330622.5	37	c.1119A>T	CCDS9184.1																																																																																				0.478	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404409.1	NM_033624		28	120	0	0	0	0.009535	0	28	120				
GCN1L1	10985	broad.mit.edu	37	12	120614022	120614022	+	Splice_Site	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:120614022T>A	ENST00000300648.6	-	10	851		c.e10-2			NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)						regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)	p.?(2)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAGAAATAGCTAAGGGGGACA	0.502																																							uc001txo.2		NA																	2	Unknown(2)		lung(2)	ovary(4)	4						c.e10-1		GCN1 general control of amino-acid synthesis							83.0	84.0	84.0					12																	120614022		2032	4189	6221	SO:0001630	splice_region_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120614022T>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.839-2A>T	12.37:g.120614022T>A							p.T280_splice	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			10	852	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)							A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Splice_Site	SNP	ENST00000300648.6	37	c.839_splice	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	T	18.14	3.556525	0.65425	.	.	ENSG00000089154	ENST00000300648	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8014	0.78456	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GCN1L1	119098405	1.000000	0.71417	0.945000	0.38365	0.628000	0.37860	7.649000	0.83500	2.132000	0.65825	0.460000	0.39030	.		0.502	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1		Intron	44	79	0	0	0	0.011902	0	44	79				
DHX37	57647	broad.mit.edu	37	12	125437014	125437014	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:125437014A>C	ENST00000308736.2	-	21	2896	c.2798T>G	c.(2797-2799)cTg>cGg	p.L933R	DHX37_ENST00000544745.1_Missense_Mutation_p.L720R	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	933							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GTGGTCCCCCAGGCCTGCCGT	0.672																																							uc001ugy.2		NA																	0				skin(1)	1						c.(2797-2799)CTG>CGG		DEAH (Asp-Glu-Ala-His) box polypeptide 37							55.0	44.0	48.0					12																	125437014		2203	4300	6503	SO:0001583	missense	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125437014A>C	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.2798T>G	12.37:g.125437014A>C	ENSP00000311135:p.Leu933Arg					DHX37_uc001ugz.1_Missense_Mutation_p.L20R	p.L933R	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	21	2897	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		933					Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	c.2798T>G	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	A	19.83	3.900754	0.72754	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.03772	3.89;3.81	5.13	5.13	0.70059	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.25005	0.0607	M	0.87971	2.92	0.58432	D	0.999997	D;D	0.71674	0.998;0.998	D;D	0.71870	0.975;0.97	T	0.03969	-1.0988	10	0.72032	D	0.01	-25.388	14.9399	0.70986	1.0:0.0:0.0:0.0	.	720;933	F5H3Y4;Q8IY37	.;DHX37_HUMAN	R	933;720	ENSP00000311135:L933R;ENSP00000439009:L720R	ENSP00000311135:L933R	L	-	2	0	DHX37	124002967	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	8.428000	0.90278	1.928000	0.55862	0.379000	0.24179	CTG		0.672	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		6	69	0	0	0	0.00308	0	6	69				
EP400	57634	broad.mit.edu	37	12	132446343	132446343	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:132446343G>C	ENST00000333577.4	+	2	1288	c.1179G>C	c.(1177-1179)ttG>ttC	p.L393F	EP400_ENST00000330386.6_Missense_Mutation_p.L393F|EP400_ENST00000332482.4_Missense_Mutation_p.L393F|EP400_ENST00000389561.2_Missense_Mutation_p.L393F|EP400_ENST00000389562.2_Missense_Mutation_p.L393F			Q96L91	EP400_HUMAN	E1A binding protein p400	393					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.L393F(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGTTTTTCTTGCAACACTTTC	0.413																																							uc001ujn.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(1177-1179)TTG>TTC		E1A binding protein p400							115.0	108.0	111.0					12																	132446343		2203	4298	6501	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132446343G>C	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.1179G>C	12.37:g.132446343G>C	ENSP00000333602:p.Leu393Phe					EP400_uc001ujl.2_Missense_Mutation_p.L393F|EP400_uc001ujm.2_Missense_Mutation_p.L393F|EP400_uc001ujj.1_Missense_Mutation_p.L393F|EP400_uc001ujk.2_Missense_Mutation_p.L393F	p.L393F	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	1	1214	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	393					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.1179G>C		.	.	.	.	.	.	.	.	.	.	G	9.251	1.040856	0.19669	.	.	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.97089	-4.09;-4.16;-4.17;-4.24;-4.15	5.39	1.45	0.22620	.	0.000000	0.64402	D	0.000001	D	0.97408	0.9152	M	0.76002	2.32	0.33579	D	0.599573	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;1.0;0.999	D	0.96366	0.9270	10	0.72032	D	0.01	.	5.2216	0.15371	0.2722:0.0:0.5916:0.1361	.	393;393;393;393;393	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	F	393	ENSP00000333602:L393F;ENSP00000374212:L393F;ENSP00000374213:L393F;ENSP00000331737:L393F;ENSP00000330620:L393F	ENSP00000330620:L393F	L	+	3	2	EP400	131012296	1.000000	0.71417	0.939000	0.37840	0.985000	0.73830	1.983000	0.40648	0.644000	0.30656	0.561000	0.74099	TTG		0.413	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		24	116	0	0	0	0.00333	0	24	116				
P2RX2	22953	broad.mit.edu	37	12	133198443	133198443	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:133198443C>A	ENST00000389110.3	+	11	1338	c.1301C>A	c.(1300-1302)cCg>cAg	p.P434Q	P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000350048.5_Missense_Mutation_p.P410Q|P2RX2_ENST00000348800.5_Intron|P2RX2_ENST00000352418.4_Missense_Mutation_p.P362Q|P2RX2_ENST00000343948.4_Missense_Mutation_p.P460Q|P2RX2_ENST00000351222.4_Missense_Mutation_p.P342Q	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	434					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)	p.P460Q(2)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		CCAGCCTTCCCGCCCCTGCGG	0.692																																							uc001ukj.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1300-1302)CCG>CAG		purinergic receptor P2X2 isoform A							35.0	40.0	38.0					12																	133198443		2203	4300	6503	SO:0001583	missense	22953				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	g.chr12:133198443C>A	AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	15459	protein-coding gene	gene with protein product		600844	"""deafness, autosomal dominant 41"""	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.1301C>A	12.37:g.133198443C>A	ENSP00000373762:p.Pro434Gln					P2RX2_uc001uki.1_Intron|P2RX2_uc001ukk.1_Missense_Mutation_p.P460Q|P2RX2_uc001ukl.1_Missense_Mutation_p.P410Q|P2RX2_uc001ukm.1_Missense_Mutation_p.P362Q|P2RX2_uc001ukn.1_Missense_Mutation_p.P342Q|P2RX2_uc009zyt.1_3'UTR|P2RX2_uc001uko.1_Intron	p.P434Q	NM_170682	NP_733782	Q9UBL9	P2RX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)	11	1301	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)	434			Cytoplasmic (Potential).		A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Missense_Mutation	SNP	ENST00000389110.3	37	c.1301C>A	CCDS31931.1	.	.	.	.	.	.	.	.	.	.	C	0.090	-1.169138	0.01660	.	.	ENSG00000187848	ENST00000389110;ENST00000343948;ENST00000352418;ENST00000350048;ENST00000351222	T;T;T;T;T	0.04970	3.83;3.54;3.52;3.65;3.57	3.7	-6.63	0.01807	.	6.711160	0.00861	N	0.001925	T	0.03095	0.0091	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.24675	0.018;0.109;0.022;0.044;0.006	B;B;B;B;B	0.22880	0.013;0.042;0.006;0.02;0.004	T	0.34378	-0.9831	10	0.27785	T	0.31	-0.3113	0.9275	0.01327	0.2467:0.2779:0.1074:0.368	.	342;362;410;460;434	Q9UBL9-5;Q9UBL9-6;Q9UBL9-3;Q9UBL9-4;Q9UBL9	.;.;.;.;P2RX2_HUMAN	Q	434;460;362;410;342	ENSP00000373762:P434Q;ENSP00000343339:P460Q;ENSP00000341419:P362Q;ENSP00000343904:P410Q;ENSP00000344502:P342Q	ENSP00000343339:P460Q	P	+	2	0	P2RX2	131708516	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.983000	0.00661	-1.198000	0.02669	-0.379000	0.06801	CCG		0.692	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397542.1			32	80	1	0	1.13719e-10	0.008361	1.52557e-10	32	80				
GPR12	2835	broad.mit.edu	37	13	27333071	27333071	+	Silent	SNP	A	A	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:27333071A>G	ENST00000381436.2	-	1	1356	c.894T>C	c.(892-894)ccT>ccC	p.P298P	GPR12_ENST00000405846.3_Silent_p.P298P			P47775	GPR12_HUMAN	G protein-coupled receptor 12	298					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)	p.P298P(2)		endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		CATATATGACAGGGTTGATGA	0.542																																							uc010aal.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(892-894)CCT>CCC		G protein-coupled receptor 12							122.0	119.0	120.0					13																	27333071		2203	4300	6503	SO:0001819	synonymous_variant	2835					integral to plasma membrane		g.chr13:27333071A>G	U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"""GPCR / Class A : Orphans"""	4466	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 84"""	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.894T>C	13.37:g.27333071A>G						GPR12_uc010tdl.1_Silent_p.P139P	p.P298P	NM_005288	NP_005279	P47775	GPR12_HUMAN		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)	2	1116	-	Colorectal(5;5.77e-05)	Breast(139;0.198)	298			Helical; Name=7; (Potential).		Q5T8P3	Silent	SNP	ENST00000381436.2	37	c.894T>C	CCDS9319.1																																																																																				0.542	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2			25	85	0	0	0	0.00333	0	25	85				
FLT1	2321	broad.mit.edu	37	13	28893606	28893606	+	Missense_Mutation	SNP	G	G	T	rs116034414		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:28893606G>T	ENST00000282397.4	-	24	3491	c.3240C>A	c.(3238-3240)agC>agA	p.S1080R	FLT1_ENST00000543394.1_Missense_Mutation_p.S103R|FLT1_ENST00000540678.1_Missense_Mutation_p.S298R	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1080	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.S1080R(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCACACGTCGCTCTTGGTGC	0.463																																							uc001usb.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(3238-3240)AGC>AGA		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)						86.0	75.0	79.0					13																	28893606		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28893606G>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3240C>A	13.37:g.28893606G>T	ENSP00000282397:p.Ser1080Arg					FLT1_uc010aap.2_Missense_Mutation_p.S85R|FLT1_uc010aaq.2_Missense_Mutation_p.S205R|FLT1_uc001usa.3_Missense_Mutation_p.S298R	p.S1080R	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	24	3525	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	1080			Cytoplasmic (Potential).|Protein kinase.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.3240C>A	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707446	0.68615	.	.	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	D;D;D	0.89415	-2.51;-2.51;-2.51	5.49	-5.64	0.02466	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	0.93769	0.8008	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92762	0.6225	10	0.87932	D	0	.	17.2222	0.86960	0.7055:0.0:0.2945:0.0	.	1080	P17948	VGFR1_HUMAN	R	1080;103;298	ENSP00000282397:S1080R;ENSP00000437841:S103R;ENSP00000443311:S298R	ENSP00000282397:S1080R	S	-	3	2	FLT1	27791606	0.000000	0.05858	0.777000	0.31699	0.998000	0.95712	-1.534000	0.02212	-1.323000	0.02275	0.655000	0.94253	AGC		0.463	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			5	31	1	0	5.9392e-07	0.001168	7.04957e-07	5	31				
NBEA	26960	broad.mit.edu	37	13	35770394	35770394	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:35770394G>T	ENST00000400445.3	+	31	5855	c.5321G>T	c.(5320-5322)aGa>aTa	p.R1774I	NBEA_ENST00000540320.1_Missense_Mutation_p.R1774I|NBEA_ENST00000310336.4_Missense_Mutation_p.R1774I|NBEA_ENST00000379939.2_Missense_Mutation_p.R1771I	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1774					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.R1774I(2)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCATTGAAGAGAGAAACACAA	0.393																																							uc001uvb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(9)|large_intestine(2)	11						c.(5320-5322)AGA>ATA		neurobeachin							66.0	64.0	65.0					13																	35770394		1879	4103	5982	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35770394G>T	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.5321G>T	13.37:g.35770394G>T	ENSP00000383295:p.Arg1774Ile					NBEA_uc010abi.2_Missense_Mutation_p.R430I	p.R1774I	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	31	5527	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	1774					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.5321G>T	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475266	0.43942	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.82	5.82	0.92795	.	0.230889	0.46442	D	0.000282	T	0.44664	0.1304	L	0.44542	1.39	0.80722	D	1	B;B	0.25850	0.038;0.136	B;B	0.20577	0.01;0.03	T	0.22103	-1.0226	10	0.39692	T	0.17	.	20.0979	0.97857	0.0:0.0:1.0:0.0	.	1774;1771	Q8NFP9;Q5T321	NBEA_HUMAN;.	I	1774;1774;1771;1774;401	ENSP00000440951:R1774I;ENSP00000383295:R1774I;ENSP00000369271:R1771I;ENSP00000308534:R1774I	ENSP00000308534:R1774I	R	+	2	0	NBEA	34668394	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.842000	0.86851	2.767000	0.95098	0.585000	0.79938	AGA		0.393	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		18	47	1	0	1.67942e-08	0.006122	2.084e-08	18	47				
KBTBD6	89890	broad.mit.edu	37	13	41705328	41705328	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:41705328C>A	ENST00000379485.1	-	1	1554	c.1320G>T	c.(1318-1320)ttG>ttT	p.L440F	KBTBD6_ENST00000499385.2_Missense_Mutation_p.L374F	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	440								p.L440F(2)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CTCGCCCCCCCAAAATGTAGA	0.473																																							uc001uxu.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1318-1320)TTG>TTT		kelch repeat and BTB (POZ) domain-containing 6							101.0	102.0	102.0					13																	41705328		2203	4300	6503	SO:0001583	missense	89890						protein binding	g.chr13:41705328C>A	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1320G>T	13.37:g.41705328C>A	ENSP00000368799:p.Leu440Phe					KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.L374F|uc001uxv.1_5'Flank	p.L440F	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1609	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	440			Kelch 2.		Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.1320G>T	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	c	14.80	2.643227	0.47153	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.76968	-1.06;-1.06	3.8	3.8	0.43715	Kelch-type beta propeller (1);	0.191050	0.34133	N	0.004232	T	0.81375	0.4809	L	0.38531	1.155	0.35423	D	0.793374	D;D	0.71674	0.998;0.998	D;D	0.71870	0.975;0.957	D	0.86242	0.1644	10	0.59425	D	0.04	.	13.5205	0.61566	0.0:1.0:0.0:0.0	.	374;440	F5GZN7;Q86V97	.;KBTB6_HUMAN	F	440;374	ENSP00000368799:L440F;ENSP00000444326:L374F	ENSP00000368799:L440F	L	-	3	2	KBTBD6	40603328	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	0.887000	0.28254	2.132000	0.65825	0.462000	0.41574	TTG		0.473	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		16	133	1	0	1.3612e-06	0.003163	1.59489e-06	16	133				
FAM124A	220108	broad.mit.edu	37	13	51855350	51855350	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:51855350G>A	ENST00000322475.8	+	4	1734	c.1599G>A	c.(1597-1599)tcG>tcA	p.S533S	FAM124A_ENST00000280057.6_Silent_p.S569S	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	533								p.S569S(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CCCCAGGGTCGGCTGGCCCCG	0.577																																							uc001vfg.1		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(1597-1599)TCG>TCA		hypothetical protein LOC220108							49.0	49.0	49.0					13																	51855350		2203	4300	6503	SO:0001819	synonymous_variant	220108							g.chr13:51855350G>A	AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.1599G>A	13.37:g.51855350G>A						FAM124A_uc001vff.1_Silent_p.S569S	p.S533S	NM_145019	NP_659456	Q86V42	F124A_HUMAN		GBM - Glioblastoma multiforme(99;4.25e-07)	4	1730	+		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)	533					A2A324|Q8N8P9|Q8NE66|Q96NJ9	Silent	SNP	ENST00000322475.8	37	c.1599G>A	CCDS55900.1																																																																																				0.577	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045019.3	NM_145019		43	89	0	0	0	0.009718	0	43	89				
OLFM4	10562	broad.mit.edu	37	13	53624298	53624298	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:53624298C>A	ENST00000219022.2	+	5	1003	c.925C>A	c.(925-927)Ctg>Atg	p.L309M		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	309	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)	p.L309M(2)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GTACAACACACTGGATGATTT	0.433																																							uc001vhl.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(925-927)CTG>ATG		olfactomedin 4 precursor							126.0	104.0	112.0					13																	53624298		2203	4300	6503	SO:0001583	missense	10562				cell adhesion	extracellular space		g.chr13:53624298C>A	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.925C>A	13.37:g.53624298C>A	ENSP00000219022:p.Leu309Met					OLFM4_uc001vhk.1_Intron	p.L309M	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	5	925	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	309			Olfactomedin-like.		O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	37	c.925C>A	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	C	7.114	0.576625	0.13686	.	.	ENSG00000102837	ENST00000219022	D	0.89415	-2.51	5.92	-9.52	0.00578	Olfactomedin-like (3);	0.793630	0.11784	N	0.529886	T	0.79678	0.4487	L	0.41961	1.31	0.09310	N	1	B	0.32467	0.372	B	0.35899	0.213	T	0.66937	-0.5797	10	0.34782	T	0.22	.	7.8598	0.29504	0.469:0.099:0.0:0.432	.	309	Q6UX06	OLFM4_HUMAN	M	309	ENSP00000219022:L309M	ENSP00000219022:L309M	L	+	1	2	OLFM4	52522299	0.000000	0.05858	0.002000	0.10522	0.045000	0.14185	-1.612000	0.02061	-1.457000	0.01919	-0.158000	0.13435	CTG		0.433	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		42	112	1	0	1.59361e-14	0.006999	2.32029e-14	42	112				
PCDH17	27253	broad.mit.edu	37	13	58207122	58207122	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:58207122G>T	ENST00000377918.3	+	1	468	c.442G>T	c.(442-444)Ggc>Tgc	p.G148C		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	148	Cadherin 2. {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.G148C(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGCTGCTCCGGGCACCCGCTT	0.617																																					Melanoma(72;952 1291 1619 12849 33676)	Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(442-444)GGC>TGC		protocadherin 17 precursor							74.0	64.0	68.0					13																	58207122		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58207122G>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.442G>T	13.37:g.58207122G>T	ENSP00000367151:p.Gly148Cys					PCDH17_uc010aec.1_Missense_Mutation_p.G148C	p.G148C	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1334	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	148			Extracellular (Potential).|Cadherin 2.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.442G>T	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.716018	0.48622	.	.	ENSG00000118946	ENST00000377918	T	0.69306	-0.39	5.1	5.1	0.69264	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.90985	0.7165	H	0.99863	4.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95105	0.8233	9	.	.	.	.	18.7125	0.91662	0.0:0.0:1.0:0.0	.	148;148	O14917-2;O14917	.;PCD17_HUMAN	C	148	ENSP00000367151:G148C	.	G	+	1	0	PCDH17	57105123	1.000000	0.71417	0.932000	0.37286	0.112000	0.19704	9.612000	0.98347	2.669000	0.90835	0.650000	0.86243	GGC		0.617	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		12	50	1	0	1.61879e-10	0.001368	2.15576e-10	12	50				
PCDH17	27253	broad.mit.edu	37	13	58207470	58207470	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:58207470G>T	ENST00000377918.3	+	1	816	c.790G>T	c.(790-792)Gat>Tat	p.D264Y		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	264	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D264Y(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGTGGTCATCGATCTGAACGC	0.587																																					Melanoma(72;952 1291 1619 12849 33676)	Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(790-792)GAT>TAT		protocadherin 17 precursor							73.0	63.0	66.0					13																	58207470		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58207470G>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.790G>T	13.37:g.58207470G>T	ENSP00000367151:p.Asp264Tyr					PCDH17_uc010aec.1_Missense_Mutation_p.D264Y	p.D264Y	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1682	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	264			Extracellular (Potential).|Cadherin 3.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.790G>T	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080633	0.36758	.	.	ENSG00000118946	ENST00000377918	T	0.52057	0.68	4.73	4.73	0.59995	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.66277	0.2773	M	0.63843	1.955	0.58432	D	0.999994	D;D	0.76494	0.998;0.999	D;D	0.77004	0.981;0.989	T	0.65952	-0.6043	9	.	.	.	.	17.8954	0.88886	0.0:0.0:1.0:0.0	.	264;264	O14917-2;O14917	.;PCD17_HUMAN	Y	264	ENSP00000367151:D264Y	.	D	+	1	0	PCDH17	57105471	1.000000	0.71417	0.997000	0.53966	0.433000	0.31745	6.626000	0.74253	2.470000	0.83445	0.650000	0.86243	GAT		0.587	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		52	128	1	0	6.81593e-30	0.00361	1.22418e-29	52	128				
DIAPH3	81624	broad.mit.edu	37	13	60490351	60490351	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:60490351C>A	ENST00000400324.4	-	19	2423	c.2203G>T	c.(2203-2205)Gag>Tag	p.E735*	DIAPH3_ENST00000267215.4_Nonsense_Mutation_p.E735*|DIAPH3_ENST00000400319.1_Nonsense_Mutation_p.E665*|DIAPH3_ENST00000377908.2_Nonsense_Mutation_p.E724*|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Nonsense_Mutation_p.E689*|DIAPH3_ENST00000400330.1_Nonsense_Mutation_p.E735*	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	735	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E735*(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CTGATTTCCTCATATGGCACC	0.348																																							uc001vht.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)	2						c.(2203-2205)GAG>TAG		diaphanous homolog 3 isoform a							127.0	113.0	117.0					13																	60490351		1828	4093	5921	SO:0001587	stop_gained	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60490351C>A	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.2203G>T	13.37:g.60490351C>A	ENSP00000383178:p.Glu735*					DIAPH3_uc001vhu.2_Nonsense_Mutation_p.E472*|DIAPH3_uc001vhv.2_Nonsense_Mutation_p.E313*	p.E735*	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	19	2422	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	735			FH2.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Nonsense_Mutation	SNP	ENST00000400324.4	37	c.2203G>T	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	C	40	8.001375	0.98605	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	.	.	.	5.87	5.87	0.94306	.	0.162939	0.52532	D	0.000079	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.8113	0.96547	0.0:1.0:0.0:0.0	.	.	.	.	X	735;735;724;689;665;724;665;689;735;472;735	.	ENSP00000267214:E472X	E	-	1	0	DIAPH3	59388352	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.485000	0.45250	2.767000	0.95098	0.591000	0.81541	GAG		0.348	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		25	70	1	0	4.26978e-12	0.00333	5.97769e-12	25	70				
OXGR1	27199	broad.mit.edu	37	13	97639260	97639260	+	Missense_Mutation	SNP	C	C	A	rs144457939		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:97639260C>A	ENST00000298440.1	-	4	997	c.754G>T	c.(754-756)Gta>Tta	p.V252L	OXGR1_ENST00000543457.1_Missense_Mutation_p.V252L	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	252					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V252L(2)|p.V252I(1)		NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			AAAAAACATACGTAAAATGCA	0.438																																							uc001vmx.1		NA																	3	Substitution - Missense(3)	p.V252I(1)	lung(2)|ovary(1)	ovary(1)|skin(1)	2						c.(754-756)GTA>TTA		oxoglutarate (alpha-ketoglutarate) receptor 1							122.0	119.0	120.0					13																	97639260		2203	4300	6503	SO:0001583	missense	27199					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:97639260C>A	AF411109	CCDS9482.1	13q32.2	2014-04-09	2004-07-08	2004-07-09	ENSG00000165621	ENSG00000165621		"""GPCR / Class A : Orphans"""	4531	protein-coding gene	gene with protein product	"""2-oxoglutarate receptor 1"", ""alpha-ketoglutarate receptor 1"""	606922	"""G protein-coupled receptor 80"""	GPR99, GPR80		15141213, 12098360	Standard	NM_080818		Approved	P2RY15, P2Y15, aKGR	uc001vmx.1	Q96P68	OTTHUMG00000017236	ENST00000298440.1:c.754G>T	13.37:g.97639260C>A	ENSP00000298440:p.Val252Leu					OXGR1_uc010afr.1_Missense_Mutation_p.V252L	p.V252L	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.186)		4	998	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		252			Helical; Name=6; (Potential).		Q5T5A7|Q86TL1	Missense_Mutation	SNP	ENST00000298440.1	37	c.754G>T	CCDS9482.1	.	.	.	.	.	.	.	.	.	.	C	9.429	1.085105	0.20390	.	.	ENSG00000165621	ENST00000298440;ENST00000543457	T;T	0.36157	1.27;1.27	5.83	-1.51	0.08664	GPCR, rhodopsin-like superfamily (1);	0.562270	0.18992	N	0.125569	T	0.18635	0.0447	N	0.16037	0.36	0.09310	N	0.999994	B	0.22683	0.073	B	0.30495	0.116	T	0.32188	-0.9916	10	0.02654	T	1	.	13.4167	0.60972	0.0:0.6035:0.0:0.3965	.	252	Q96P68	OXGR1_HUMAN	L	252	ENSP00000298440:V252L;ENSP00000438800:V252L	ENSP00000298440:V252L	V	-	1	0	OXGR1	96437261	0.000000	0.05858	0.275000	0.24674	0.538000	0.34931	-0.242000	0.08928	-0.354000	0.08212	-0.355000	0.07637	GTA		0.438	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045521.3	NM_080818		30	74	1	0	6.38683e-12	0.008361	8.89594e-12	30	74				
ZIC2	7546	broad.mit.edu	37	13	100637593	100637593	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:100637593C>T	ENST00000376335.3	+	3	1549	c.1256C>T	c.(1255-1257)cCg>cTg	p.P419L	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	419					brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P419L(1)		large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAGTCCTCCCCGCAGGGCTCT	0.711																																					Pancreas(97;119 1522 31925 44771 48764)	Pancreas(97;119 1522 31925 44771 48764)	uc001von.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1255-1257)CCG>CTG		zinc finger protein of the cerebellum 2							13.0	17.0	16.0					13																	100637593		1962	4192	6154	SO:0001583	missense	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100637593C>T	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.1256C>T	13.37:g.100637593C>T	ENSP00000365514:p.Pro419Leu						p.P419L	NM_007129	NP_009060	O95409	ZIC2_HUMAN			3	1256	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		419					Q5VYA9|Q9H309	Missense_Mutation	SNP	ENST00000376335.3	37	c.1256C>T	CCDS9495.1	.	.	.	.	.	.	.	.	.	.	c	14.21	2.466008	0.43839	.	.	ENSG00000043355	ENST00000376335	T	0.63913	-0.07	3.48	2.64	0.31445	Zinc finger, C2H2 (1);	0.123342	0.56097	D	0.000036	T	0.43942	0.1270	L	0.34521	1.04	0.58432	D	0.999998	P	0.38370	0.628	B	0.22386	0.039	T	0.48969	-0.8987	10	0.72032	D	0.01	.	12.0133	0.53299	0.0:0.8227:0.1773:0.0	.	419	O95409	ZIC2_HUMAN	L	419	ENSP00000365514:P419L	ENSP00000365514:P419L	P	+	2	0	ZIC2	99435594	0.949000	0.32298	0.898000	0.35279	0.836000	0.47400	3.616000	0.54174	0.789000	0.33779	-0.648000	0.03929	CCG		0.711	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		11	38	0	0	0	0.010729	0	11	38				
FAM155A	728215	broad.mit.edu	37	13	108518829	108518829	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:108518829C>A	ENST00000375915.2	-	1	254	c.116G>T	c.(115-117)cGa>cTa	p.R39L		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	39						integral component of membrane (GO:0016021)		p.R39L(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CAGAGACAGTCGCCATTTCTG	0.557																																							uc001vql.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(115-117)CGA>CTA		family with sequence similarity 155, member A							158.0	167.0	164.0					13																	108518829		2203	4300	6503	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:108518829C>A	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.116G>T	13.37:g.108518829C>A	ENSP00000365080:p.Arg39Leu						p.R39L	NM_001080396	NP_001073865	B1AL88	F155A_HUMAN			1	632	-			39					B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.116G>T	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016526	0.75161	.	.	ENSG00000204442	ENST00000375915	.	.	.	5.13	4.28	0.50868	.	0.000000	0.64402	D	0.000006	T	0.69260	0.3091	L	0.50333	1.59	0.46149	D	0.998895	D	0.71674	0.998	D	0.78314	0.991	T	0.71741	-0.4501	9	0.87932	D	0	.	12.6218	0.56607	0.0:0.9196:0.0:0.0804	.	39	B1AL88	F155A_HUMAN	L	39	.	ENSP00000365080:R39L	R	-	2	0	FAM155A	107316830	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.215000	0.77966	1.153000	0.42468	0.650000	0.86243	CGA		0.557	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		93	250	1	0	3.01496e-42	0.00361	5.87917e-42	93	250				
OR6S1	341799	broad.mit.edu	37	14	21109284	21109284	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:21109284G>T	ENST00000320704.3	-	1	566	c.567C>A	c.(565-567)cgC>cgA	p.R189R		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R189R(2)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TGCAAGCCAGGCGGAGCAGTG	0.572																																							uc001vxv.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(565-567)CGC>CGA		olfactory receptor, family 6, subfamily S,							66.0	66.0	66.0					14																	21109284		2203	4300	6503	SO:0001819	synonymous_variant	341799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21109284G>T	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"""GPCR / Class A : Olfactory receptors"""	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.567C>A	14.37:g.21109284G>T							p.R189R	NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	1	567	-	all_cancers(95;0.00304)		189			Extracellular (Potential).		Q6IFJ9	Silent	SNP	ENST00000320704.3	37	c.567C>A	CCDS32038.1																																																																																				0.572	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			61	80	1	0	1.4709e-25	0.00361	2.49413e-25	61	80				
RNASE2	6036	broad.mit.edu	37	14	21424301	21424301	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:21424301G>C	ENST00000304625.2	+	2	461	c.371G>C	c.(370-372)aGg>aCg	p.R124T		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	124					chemotaxis (GO:0006935)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)|ribonuclease activity (GO:0004540)	p.R124T(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		TCAAACTGCAGGTATGCGCAG	0.458																																							uc010aif.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(370-372)AGG>ACG		ribonuclease, RNase A family, 2 (liver,							99.0	98.0	98.0					14																	21424301		2203	4298	6501	SO:0001583	missense	6036				chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21424301G>C	X55988	CCDS9561.1	14q11.2	2014-03-13			ENSG00000169385	ENSG00000169385		"""Ribonucleases, RNase A"""	10045	protein-coding gene	gene with protein product		131410		RNS2		1577491, 2734298	Standard	NM_002934		Approved	EDN	uc001vyl.1	P10153	OTTHUMG00000029607	ENST00000304625.2:c.371G>C	14.37:g.21424301G>C	ENSP00000303276:p.Arg124Thr					RNASE2_uc001vyl.1_Missense_Mutation_p.R124T	p.R124T	NM_002934	NP_002925	P10153	RNAS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	2	440	+	all_cancers(95;0.00381)		124					Q52M39|Q9H2B7|Q9UCG7	Missense_Mutation	SNP	ENST00000304625.2	37	c.371G>C	CCDS9561.1	.	.	.	.	.	.	.	.	.	.	g	4.015	0.000178	0.07819	.	.	ENSG00000169385	ENST00000304625	T	0.73897	-0.79	3.02	-6.03	0.02185	Ribonuclease A, domain (4);	1.398780	0.05084	U	0.484079	T	0.66386	0.2784	M	0.68728	2.09	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.48352	-0.9043	10	0.62326	D	0.03	.	2.8367	0.05516	0.5221:0.2199:0.1474:0.1106	.	124	P10153	RNAS2_HUMAN	T	124	ENSP00000303276:R124T	ENSP00000303276:R124T	R	+	2	0	RNASE2	20494141	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.375000	0.00493	-2.963000	0.00289	-0.493000	0.04662	AGG		0.458	RNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073799.2			52	165	0	0	0	0.00361	0	52	165				
MYH6	4624	broad.mit.edu	37	14	23863047	23863047	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:23863047G>A	ENST00000356287.3	-	21	2785	c.2756C>T	c.(2755-2757)gCc>gTc	p.A919V	MYH6_ENST00000405093.3_Missense_Mutation_p.A919V			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	919					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.A919V(2)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTTTACTTTGGCCTCCAGCTG	0.527																																							uc001wjv.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(2)|ovary(1)|skin(1)	4						c.(2755-2757)GCC>GTC		myosin heavy chain 6							130.0	120.0	124.0					14																	23863047		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23863047G>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2756C>T	14.37:g.23863047G>A	ENSP00000348634:p.Ala919Val						p.A919V	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	22	2823	-	all_cancers(95;2.54e-05)		919			Potential.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.2756C>T	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	g	23.4	4.415849	0.83449	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.91295	-2.82;-2.82	4.95	4.95	0.65309	.	.	.	.	.	D	0.96430	0.8835	M	0.90977	3.165	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	D	0.97295	0.9927	9	0.87932	D	0	.	18.5748	0.91150	0.0:0.0:1.0:0.0	.	919	P13533	MYH6_HUMAN	V	919	ENSP00000386041:A919V;ENSP00000348634:A919V	ENSP00000348634:A919V	A	-	2	0	MYH6	22932887	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.626000	0.83164	2.460000	0.83146	0.650000	0.86243	GCC		0.527	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			40	118	0	0	0	0.006999	0	40	118				
MYH6	4624	broad.mit.edu	37	14	23871768	23871768	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:23871768C>A	ENST00000356287.3	-	11	1075	c.1046G>T	c.(1045-1047)gGc>gTc	p.G349V	MYH6_ENST00000405093.3_Missense_Mutation_p.G349V			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	349	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.G349V(2)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTTGTAGACGCCAGCTTTCTC	0.612																																							uc001wjv.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(2)|ovary(1)|skin(1)	4						c.(1045-1047)GGC>GTC		myosin heavy chain 6							111.0	104.0	106.0					14																	23871768		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23871768C>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1046G>T	14.37:g.23871768C>A	ENSP00000348634:p.Gly349Val					MYH6_uc010akp.1_Missense_Mutation_p.G349V	p.G349V	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	12	1113	-	all_cancers(95;2.54e-05)		349			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.1046G>T	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	16.43	3.120320	0.56613	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.87729	-2.29;-2.29	3.82	3.82	0.43975	Myosin head, motor domain (2);	.	.	.	.	D	0.92267	0.7547	M	0.86864	2.845	0.38487	D	0.947877	B;B	0.34214	0.442;0.442	P;P	0.49301	0.606;0.606	D	0.94241	0.7485	9	0.87932	D	0	.	12.6702	0.56862	0.0:0.833:0.167:0.0	.	349;349	D9YZU2;P13533	.;MYH6_HUMAN	V	349	ENSP00000386041:G349V;ENSP00000348634:G349V	ENSP00000348634:G349V	G	-	2	0	MYH6	22941608	0.000000	0.05858	0.201000	0.23476	0.959000	0.62525	0.871000	0.28023	1.864000	0.54056	0.305000	0.20034	GGC		0.612	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			70	331	1	0	1.34568e-36	0.00361	2.56007e-36	70	331				
JPH4	84502	broad.mit.edu	37	14	24040419	24040419	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:24040419C>T	ENST00000397118.3	-	6	2423	c.1521G>A	c.(1519-1521)gaG>gaA	p.E507E	JPH4_ENST00000544177.1_Silent_p.E172E|JPH4_ENST00000356300.4_Silent_p.E507E	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	507					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CAGCTAGTTCCTCTGCCTGTG	0.667																																							uc001wkq.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1519-1521)GAG>GAA		junctophilin 4							117.0	122.0	120.0					14																	24040419		2203	4300	6503	SO:0001819	synonymous_variant	84502				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		g.chr14:24040419C>T	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1521G>A	14.37:g.24040419C>T						JPH4_uc010tnr.1_Silent_p.E172E|JPH4_uc001wkr.2_Silent_p.E507E	p.E507E	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	6	2439	-	all_cancers(95;0.000251)		507			Cytoplasmic (Potential).		D3DS53|Q8ND44|Q96DQ0	Silent	SNP	ENST00000397118.3	37	c.1521G>A	CCDS9603.1																																																																																				0.667	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452		7	504	0	0	0	0.00308	0	7	504				
ADCY4	196883	broad.mit.edu	37	14	24802138	24802138	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:24802138G>C	ENST00000310677.4	-	3	329	c.216C>G	c.(214-216)ttC>ttG	p.F72L	ADCY4_ENST00000554068.2_Missense_Mutation_p.F72L|ADCY4_ENST00000558563.1_5'UTR|ADCY4_ENST00000418030.2_Missense_Mutation_p.F72L|ADCY4_ENST00000396747.3_5'UTR|RP11-934B9.3_ENST00000555591.1_Missense_Mutation_p.L139V	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	72					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.F72L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GCAGCAGCGAGAAGCCGCCCA	0.672											OREG0022624	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001wov.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|pancreas(1)	3						c.(214-216)TTC>TTG		adenylate cyclase 4							25.0	33.0	30.0					14																	24802138		2203	4299	6502	SO:0001583	missense	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24802138G>C	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.216C>G	14.37:g.24802138G>C	ENSP00000312126:p.Phe72Leu		OREG0022624	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774	ADCY4_uc001wow.2_Missense_Mutation_p.F72L|ADCY4_uc010toh.1_5'UTR|ADCY4_uc001wox.2_Missense_Mutation_p.F72L|ADCY4_uc001woy.2_Missense_Mutation_p.F72L|ADCY4_uc001woz.3_Missense_Mutation_p.F72L	p.F72L	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	2	222	-			72			Helical; (Potential).		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	c.216C>G	CCDS9627.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.163187|5.163187	0.94727|0.94727	.|.	.|.	ENSG00000129467|ENSG00000258973	ENST00000310677;ENST00000554068;ENST00000418030|ENST00000555591	T;T;T|.	0.75589|.	-0.95;-0.95;-0.95|.	5.66|5.66	3.51|3.51	0.40186|0.40186	.|.	0.000000|.	0.51477|.	D|.	0.000099|.	T|T	0.61825|0.61825	0.2378|0.2378	L|L	0.58810|0.58810	1.83|1.83	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.998|.	D;D|.	0.91635|.	0.999;0.978|.	T|T	0.60156|0.60156	-0.7318|-0.7318	10|5	0.20519|.	T|.	0.43|.	.|.	10.8244|10.8244	0.46622|0.46622	0.1811:0.0:0.8189:0.0|0.1811:0.0:0.8189:0.0	.|.	72;72|.	G3V258;Q8NFM4|.	.;ADCY4_HUMAN|.	L|V	72|139	ENSP00000312126:F72L;ENSP00000452250:F72L;ENSP00000393177:F72L|.	ENSP00000312126:F72L|.	F|L	-|-	3|1	2|0	ADCY4|RP11-934B9.3	23871978|23871978	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.810000|0.810000	0.45777|0.45777	4.007000|4.007000	0.57093|0.57093	1.389000|1.389000	0.46526|0.46526	0.555000|0.555000	0.69702|0.69702	TTC|CTC		0.672	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			14	44	0	0	0	0.003163	0	14	44				
KHNYN	23351	broad.mit.edu	37	14	24901180	24901180	+	Missense_Mutation	SNP	G	G	T	rs142344659		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:24901180G>T	ENST00000251343.5	+	3	852	c.713G>T	c.(712-714)gGa>gTa	p.G238V	KHNYN_ENST00000554268.1_5'Flank|CBLN3_ENST00000555436.1_5'Flank|CBLN3_ENST00000267406.6_5'Flank|KHNYN_ENST00000556842.1_Missense_Mutation_p.G238V|KHNYN_ENST00000553935.1_Missense_Mutation_p.G238V			O15037	KHNYN_HUMAN	KH and NYN domain containing	238							RNA binding (GO:0003723)	p.G238V(2)		kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CTGGACACTGGATCTATGGGA	0.627											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001wph.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|liver(1)	3						c.(712-714)GGA>GTA		hypothetical protein LOC23351							69.0	72.0	71.0					14																	24901180		2203	4300	6503	SO:0001583	missense	23351							g.chr14:24901180G>T	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.713G>T	14.37:g.24901180G>T	ENSP00000251343:p.Gly238Val		OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774	KHNYN_uc010tpc.1_Missense_Mutation_p.G279V|KHNYN_uc010alw.2_Missense_Mutation_p.G238V|CBLN3_uc001wpg.3_5'Flank	p.G238V	NM_015299	NP_056114	O15037	KHNYN_HUMAN			3	915	+			238					Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	ENST00000251343.5	37	c.713G>T	CCDS32058.1	.	.	.	.	.	.	.	.	.	.	G	4.569	0.105758	0.08780	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935	T;T;T	0.24723	1.84;1.84;1.84	4.95	4.95	0.65309	.	3.720810	0.00810	N	0.001496	T	0.28665	0.0710	L	0.27053	0.805	0.41814	D	0.98998	P;P	0.41748	0.761;0.468	P;B	0.45119	0.47;0.394	T	0.17837	-1.0356	10	0.13108	T	0.6	.	13.6821	0.62491	0.0:0.0:1.0:0.0	.	279;238	D3DS77;O15037	.;KHNYN_HUMAN	V	238	ENSP00000251343:G238V;ENSP00000451106:G238V;ENSP00000450799:G238V	ENSP00000251343:G238V	G	+	2	0	KHNYN	23971020	0.987000	0.35691	0.009000	0.14445	0.081000	0.17604	3.478000	0.53158	2.292000	0.77174	0.563000	0.77884	GGA		0.627	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			58	122	1	0	2.5401e-28	0.00361	4.45946e-28	58	122				
AKAP6	9472	broad.mit.edu	37	14	33242894	33242894	+	Missense_Mutation	SNP	G	G	A	rs369391066		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:33242894G>A	ENST00000280979.4	+	12	3553	c.3383G>A	c.(3382-3384)cGt>cAt	p.R1128H	AKAP6_ENST00000557272.1_Missense_Mutation_p.R1128H	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1128					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.R1128H(2)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCCCTCTGTCGTGAAATCAAG	0.448																																					Melanoma(49;821 1200 7288 13647 42351)	Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(3382-3384)CGT>CAT		A-kinase anchor protein 6		G	HIS/ARG	0,4406		0,0,2203	129.0	122.0	124.0		3383	1.2	0.4	14		124	2,8598	2.2+/-6.3	0,2,4298	no	missense	AKAP6	NM_004274.4	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	1128/2320	33242894	2,13004	2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33242894G>A	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.3383G>A	14.37:g.33242894G>A	ENSP00000280979:p.Arg1128His					uc001wrr.2_5'Flank	p.R1128H	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	12	3553	+	Breast(36;0.0388)|Prostate(35;0.15)		1128			Spectrin 2.		A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.3383G>A	CCDS9644.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.880|0.880	-0.729167|-0.729167	0.03135|0.03135	0.0|0.0	2.33E-4|2.33E-4	ENSG00000151320|ENSG00000151320	ENST00000280979;ENST00000557272|ENST00000554740	T;T|.	0.35789|.	1.29;1.29|.	5.28|5.28	1.25|1.25	0.21368|0.21368	.|.	1.216010|.	0.05439|.	N|.	0.547370|.	T|T	0.34193|0.34193	0.0889|0.0889	L|L	0.38175|0.38175	1.15|1.15	0.09310|0.09310	N|N	1|1	B|.	0.10296|.	0.003|.	B|.	0.01281|.	0.0|.	T|T	0.25676|0.25676	-1.0125|-1.0125	10|5	0.35671|.	T|.	0.21|.	3.5856|3.5856	7.8217|7.8217	0.29292|0.29292	0.1927:0.3094:0.4979:0.0|0.1927:0.3094:0.4979:0.0	.|.	1128|.	Q13023|.	AKAP6_HUMAN|.	H|M	1128|15	ENSP00000280979:R1128H;ENSP00000451247:R1128H|.	ENSP00000280979:R1128H|.	R|V	+|+	2|1	0|0	AKAP6|AKAP6	32312645|32312645	0.226000|0.226000	0.23696|0.23696	0.422000|0.422000	0.26621|0.26621	0.139000|0.139000	0.21198|0.21198	0.416000|0.416000	0.21198|0.21198	0.297000|0.297000	0.22615|0.22615	-0.216000|-0.216000	0.12614|0.12614	CGT|GTG		0.448	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		32	324	0	0	0	0.010818	0	32	324				
MDGA2	161357	broad.mit.edu	37	14	47530541	47530541	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:47530541G>T	ENST00000399232.2	-	7	1593	c.1229C>A	c.(1228-1230)aCg>aAg	p.T410K	MDGA2_ENST00000439988.3_Missense_Mutation_p.T479K|MDGA2_ENST00000426342.1_Missense_Mutation_p.T181K|MDGA2_ENST00000357362.3_Missense_Mutation_p.T181K	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	410	Ig-like 4.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.T181K(4)|p.T479K(2)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CCCAAAATCCGTGAATTTTAA	0.428																																							uc001wwj.3		NA																	6	Substitution - Missense(6)		lung(6)	ovary(4)|large_intestine(1)|pancreas(1)	6						c.(1228-1230)ACG>AAG		MAM domain containing 1 isoform 1							156.0	143.0	147.0					14																	47530541		1886	4109	5995	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47530541G>T	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1229C>A	14.37:g.47530541G>T	ENSP00000382178:p.Thr410Lys					MDGA2_uc001wwi.3_Missense_Mutation_p.T181K|MDGA2_uc010ani.2_5'UTR	p.T410K	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			7	1425	-			410			Ig-like 4.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.1229C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.0|23.0	4.358790|4.358790	0.82243|0.82243	.|.	.|.	ENSG00000139915|ENSG00000139915	ENST00000554762|ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	.|T;T;T;T	.|0.40225	.|1.04;1.04;1.04;1.04	5.64|5.64	5.64|5.64	0.86602|0.86602	.|Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.52532	.|U	.|0.000066	T|T	0.51805|0.51805	0.1696|0.1696	L|L	0.35249|0.35249	1.045|1.045	0.80722|0.80722	D|D	1|1	.|D	.|0.57257	.|0.979	.|P	.|0.59703	.|0.862	T|T	0.48990|0.48990	-0.8985|-0.8985	5|10	.|0.51188	.|T	.|0.08	.|.	18.2795|18.2795	0.90094|0.90094	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|410	.|Q7Z553	.|MDGA2_HUMAN	Q|K	184|410;181;479;181	.|ENSP00000400011:T410K;ENSP00000405456:T181K;ENSP00000382178:T479K;ENSP00000349925:T181K	.|ENSP00000349925:T181K	H|T	-|-	3|2	2|0	MDGA2|MDGA2	46600291|46600291	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.807000|9.807000	0.99171|0.99171	2.658000|2.658000	0.90341|0.90341	0.655000|0.655000	0.94253|0.94253	CAC|ACG		0.428	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		68	90	1	0	7.59065e-32	0.00361	1.39545e-31	68	90				
SERPINA3	12	broad.mit.edu	37	14	95088804	95088804	+	Silent	SNP	G	G	T	rs560007117		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:95088804G>T	ENST00000467132.1	+	4	2192	c.1044G>T	c.(1042-1044)ggG>ggT	p.G348G	RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000482740.1_Silent_p.G130G|SERPINA3_ENST00000393080.4_Silent_p.G348G|SERPINA3_ENST00000393078.3_Silent_p.G348G			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	348					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.G348G(2)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GGATCACAGGGGCCAGGAACC	0.502																																							uc001ydp.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6						c.(1042-1044)GGG>GGT		serpin peptidase inhibitor, clade A, member 3							72.0	68.0	69.0					14																	95088804		2203	4300	6503	SO:0001819	synonymous_variant	12				acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	g.chr14:95088804G>T	K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	16	protein-coding gene	gene with protein product		107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.1044G>T	14.37:g.95088804G>T						SERPINA3_uc001ydo.3_Silent_p.G373G|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Silent_p.G348G|SERPINA3_uc001yds.2_Silent_p.G348G|SERPINA3_uc010avg.2_Silent_p.G348G	p.G348G	NM_001085	NP_001076	P01011	AACT_HUMAN		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)	4	1123	+		all_cancers(154;0.0525)|all_epithelial(191;0.179)	348					B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Silent	SNP	ENST00000467132.1	37	c.1044G>T	CCDS32150.1																																																																																				0.502	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085		23	48	1	0	1.28384e-07	0.001882	1.55427e-07	23	48				
AHNAK2	113146	broad.mit.edu	37	14	105407380	105407380	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:105407380G>C	ENST00000333244.5	-	7	14527	c.14408C>G	c.(14407-14409)gCc>gGc	p.A4803G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4803						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.A4803G(2)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGGGGCCAAGGCAGCTCTGGG	0.517																																							uc010axc.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(14407-14409)GCC>GGC		AHNAK nucleoprotein 2							73.0	76.0	75.0					14																	105407380		1948	4139	6087	SO:0001583	missense	113146					nucleus		g.chr14:105407380G>C	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.14408C>G	14.37:g.105407380G>C	ENSP00000353114:p.Ala4803Gly					AHNAK2_uc001ypx.2_Missense_Mutation_p.A4703G	p.A4803G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	14528	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4803					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.14408C>G	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	G	5.022	0.189720	0.09547	.	.	ENSG00000185567	ENST00000333244	T	0.00649	5.98	3.56	-2.62	0.06152	.	.	.	.	.	T	0.00356	0.0011	N	0.08118	0	0.09310	N	1	B	0.17268	0.021	B	0.13407	0.009	T	0.43376	-0.9395	9	0.23302	T	0.38	.	0.3603	0.00363	0.2087:0.243:0.2465:0.3018	.	4803	Q8IVF2	AHNK2_HUMAN	G	4803	ENSP00000353114:A4803G	ENSP00000353114:A4803G	A	-	2	0	AHNAK2	104478425	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	0.229000	0.17833	-0.301000	0.08882	-0.349000	0.07799	GCC		0.517	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		20	55	0	0	0	0.008871	0	20	55				
NPAP1	23742	broad.mit.edu	37	15	24922175	24922175	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr15:24922175G>T	ENST00000329468.2	+	1	1635	c.1161G>T	c.(1159-1161)gaG>gaT	p.E387D		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	387	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E387D(2)									ATAAAACAGAGACCATGACAA	0.527																																							uc001ywo.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(1159-1161)GAG>GAT		hypothetical protein LOC23742							62.0	62.0	62.0					15																	24922175		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24922175G>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1161G>T	15.37:g.24922175G>T	ENSP00000333735:p.Glu387Asp						p.E387D	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	1635	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	387			Pro-rich.			Missense_Mutation	SNP	ENST00000329468.2	37	c.1161G>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	6.728	0.503026	0.12822	.	.	ENSG00000185823	ENST00000329468	T	0.05925	3.37	2.07	1.14	0.20703	.	2.235080	0.02073	N	0.051732	T	0.07413	0.0187	N	0.11427	0.14	0.09310	N	1	D	0.58620	0.983	P	0.57846	0.828	T	0.43278	-0.9401	10	0.10636	T	0.68	.	4.8429	0.13500	0.1874:0.0:0.8126:0.0	.	387	Q9NZP6	CO002_HUMAN	D	387	ENSP00000333735:E387D	ENSP00000333735:E387D	E	+	3	2	C15orf2	22473268	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.130000	0.10498	0.435000	0.26365	-0.671000	0.03813	GAG		0.527	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		13	39	1	0	0.00010058	0.001368	0.000110274	13	39				
RYR3	6263	broad.mit.edu	37	15	34018617	34018617	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr15:34018617C>A	ENST00000389232.4	+	46	7013	c.6943C>A	c.(6943-6945)Cgc>Agc	p.R2315S	RYR3_ENST00000415757.3_Missense_Mutation_p.R2315S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2315	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.R2315S(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGAAGCCATCCGCATCAGGTC	0.552																																							uc001zhi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(6943-6945)CGC>AGC		ryanodine receptor 3							46.0	49.0	48.0					15																	34018617		2040	4192	6232	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34018617C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6943C>A	15.37:g.34018617C>A	ENSP00000373884:p.Arg2315Ser					RYR3_uc010bar.2_Missense_Mutation_p.R2315S	p.R2315S	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	46	7013	+		all_lung(180;7.18e-09)	2315			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.6943C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003579	0.54254	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.98649	-5.05;-5.05	4.98	1.87	0.25490	.	0.000000	0.85682	D	0.000000	D	0.98723	0.9571	M	0.66378	2.025	0.53005	D	0.999961	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.98816	1.0745	10	0.87932	D	0	.	13.7162	0.62697	0.5353:0.4647:0.0:0.0	.	2315;2315	Q15413-2;Q15413	.;RYR3_HUMAN	S	2315	ENSP00000373884:R2315S;ENSP00000399610:R2315S	ENSP00000354735:R2315S	R	+	1	0	RYR3	31805909	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.345000	0.44018	0.314000	0.23086	0.558000	0.71614	CGC		0.552	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			3	20	1	0	2.56e-06	0.009096	2.96136e-06	3	20				
TGM5	9333	broad.mit.edu	37	15	43552761	43552761	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr15:43552761G>A	ENST00000220420.5	-	2	34	c.27C>T	c.(25-27)ctC>ctT	p.L9L	TGM5_ENST00000349114.4_Silent_p.L9L	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	9					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.L9L(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GGAGGTCTGTGAGGGCCACTT	0.562																																							uc001zrd.1		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(25-27)CTC>CTT		transglutaminase 5 isoform 1	L-Glutamine(DB00130)						87.0	91.0	90.0					15																	43552761		2202	4299	6501	SO:0001819	synonymous_variant	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43552761G>A	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.27C>T	15.37:g.43552761G>A						TGM5_uc001zre.1_Silent_p.L9L	p.L9L	NM_201631	NP_963925	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	2	35	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	9					O43549|Q0VF40|Q9UEZ4	Silent	SNP	ENST00000220420.5	37	c.27C>T	CCDS32212.1																																																																																				0.562	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		16	76	0	0	0	0.003163	0	16	76				
SPG11	80208	broad.mit.edu	37	15	44914493	44914493	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr15:44914493A>G	ENST00000261866.7	-	13	2385	c.2369T>C	c.(2368-2370)aTa>aCa	p.I790T	SPG11_ENST00000427534.2_Missense_Mutation_p.I790T|SPG11_ENST00000535302.2_Missense_Mutation_p.I790T|SPG11_ENST00000558319.1_Missense_Mutation_p.I790T	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	790					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CACGAAGTCTATAGTTCTTTT	0.299																																							uc001ztx.2		NA																	0				ovary(4)|skin(1)	5						c.(2368-2370)ATA>ACA		spatacsin isoform 1							62.0	63.0	63.0					15																	44914493		2198	4297	6495	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44914493A>G		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.2369T>C	15.37:g.44914493A>G	ENSP00000261866:p.Ile790Thr					SPG11_uc010ueh.1_Missense_Mutation_p.I790T|SPG11_uc010uei.1_Missense_Mutation_p.I790T|SPG11_uc001ztz.1_5'Flank	p.I790T	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	13	2400	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	790			Extracellular (Potential).		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.2369T>C	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.972406	0.53614	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	D;T;T	0.81579	-1.51;-1.26;-1.25	5.47	4.34	0.51931	.	0.298092	0.33127	N	0.005254	T	0.77445	0.4131	L	0.54323	1.7	0.80722	D	1	P;P;P	0.46142	0.675;0.873;0.787	B;B;B	0.44044	0.344;0.385;0.439	T	0.77146	-0.2695	10	0.66056	D	0.02	.	9.6046	0.39626	0.9197:0.0:0.0803:0.0	.	790;790;790	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	T	790	ENSP00000261866:I790T;ENSP00000445278:I790T;ENSP00000396110:I790T	ENSP00000261866:I790T	I	-	2	0	SPG11	42701785	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.344000	0.59354	0.911000	0.36747	0.533000	0.62120	ATA		0.299	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			3	48	0	0	0	0.004672	0	3	48				
TRIM69	140691	broad.mit.edu	37	15	45052015	45052015	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr15:45052015C>A	ENST00000559390.1	+	7	1834	c.906C>A	c.(904-906)taC>taA	p.Y302*	TRIM69_ENST00000329464.4_Nonsense_Mutation_p.Y302*|TRIM69_ENST00000338264.4_Nonsense_Mutation_p.Y143*|TRIM69_ENST00000560442.1_Nonsense_Mutation_p.Y98*|TRIM69_ENST00000561043.1_Nonsense_Mutation_p.Y65*|TRIM69_ENST00000558173.1_Nonsense_Mutation_p.Y98*|TRIM69_ENST00000558329.1_Nonsense_Mutation_p.Y81*			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	302					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Y302*(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TGGGCCAGTACAAAGGTCCTA	0.473																																					Pancreas(84;519 1450 1802 20427 34706)	Pancreas(84;519 1450 1802 20427 34706)	uc001zuf.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(904-906)TAC>TAA		tripartite motif-containing 69 isoform a							106.0	102.0	103.0					15																	45052015		2198	4298	6496	SO:0001587	stop_gained	140691				apoptosis	nuclear speck	zinc ion binding	g.chr15:45052015C>A	AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	17857	protein-coding gene	gene with protein product			"""ring finger protein 36"", ""tripartite motif-containing 69"""	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.906C>A	15.37:g.45052015C>A	ENSP00000453177:p.Tyr302*					TRIM69_uc001zui.1_Nonsense_Mutation_p.Y98*|TRIM69_uc010bdy.1_Nonsense_Mutation_p.Y81*|TRIM69_uc001zug.1_Nonsense_Mutation_p.Y302*|TRIM69_uc001zuh.1_Nonsense_Mutation_p.Y143*	p.Y302*	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)	7	1801	+		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	302					A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Nonsense_Mutation	SNP	ENST00000559390.1	37	c.906C>A	CCDS32220.1	.	.	.	.	.	.	.	.	.	.	C	39	7.436063	0.98282	.	.	ENSG00000185880	ENST00000329464;ENST00000338264	.	.	.	4.9	4.9	0.64082	.	0.677027	0.14141	N	0.338722	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	9.3454	0.38104	0.0:0.9045:0.0:0.0955	.	.	.	.	X	302;143	.	ENSP00000332284:Y302X	Y	+	3	2	TRIM69	42839307	1.000000	0.71417	0.999000	0.59377	0.906000	0.53458	1.890000	0.39728	2.705000	0.92388	0.591000	0.81541	TAC		0.473	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416171.1			10	109	1	0	1.33987e-11	0.008291	1.84274e-11	10	109				
POLG	5428	broad.mit.edu	37	15	89862224	89862224	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr15:89862224G>A	ENST00000268124.5	-	20	3544	c.3211C>T	c.(3211-3213)Cgt>Tgt	p.R1071C	POLG_ENST00000442287.2_Missense_Mutation_p.R1071C	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	1071					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)	p.R1071C(2)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			ACCGGGGTACGTGGTATGTCA	0.587								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	Colon(73;648 1203 11348 18386 27782)	uc002bns.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(3211-3213)CGT>TGT	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase gamma							104.0	91.0	95.0					15																	89862224		2200	4299	6499	SO:0001583	missense	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89862224G>A	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.3211C>T	15.37:g.89862224G>A	ENSP00000268124:p.Arg1071Cys					POLG_uc002bnr.3_Missense_Mutation_p.R1071C	p.R1071C	NM_002693	NP_002684	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		20	3493	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		1071					Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	c.3211C>T	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	G	8.840	0.942086	0.18281	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.96940	-4.18;-4.18	5.35	-8.82	0.00810	DNA-directed DNA polymerase, family A, palm domain (2);	0.649942	0.16663	N	0.204697	D	0.91412	0.7290	L	0.60904	1.88	0.20563	N	0.999886	B	0.06786	0.001	B	0.01281	0.0	T	0.77343	-0.2623	10	0.45353	T	0.12	0.2171	7.5655	0.27876	0.4899:0.0:0.2973:0.2129	.	1071	P54098	DPOG1_HUMAN	C	1071	ENSP00000268124:R1071C;ENSP00000399851:R1071C	ENSP00000268124:R1071C	R	-	1	0	POLG	87663228	0.000000	0.05858	0.000000	0.03702	0.158000	0.22134	-0.436000	0.06922	-1.327000	0.02264	-0.290000	0.09829	CGT		0.587	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		19	68	0	0	0	0.002299	0	19	68				
IQGAP1	8826	broad.mit.edu	37	15	90996394	90996394	+	Missense_Mutation	SNP	G	G	T	rs372025987		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr15:90996394G>T	ENST00000268182.5	+	13	1481	c.1357G>T	c.(1357-1359)Gca>Tca	p.A453S	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	453					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)	p.A453S(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GCTCTCTGTCGCAGTGGAGAT	0.478																																							uc002bpl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8						c.(1357-1359)GCA>TCA		IQ motif containing GTPase activating protein 1							171.0	159.0	163.0					15																	90996394		2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:90996394G>T	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.1357G>T	15.37:g.90996394G>T	ENSP00000268182:p.Ala453Ser						p.A453S	NM_003870	NP_003861	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		13	1458	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		453					A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.1357G>T	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758747	0.89843	.	.	ENSG00000140575	ENST00000268182	T	0.14144	2.53	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.40619	0.1124	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.16247	-1.0409	10	0.41790	T	0.15	-13.794	17.6244	0.88091	0.0:0.0:1.0:0.0	.	453	P46940	IQGA1_HUMAN	S	453	ENSP00000268182:A453S	ENSP00000268182:A453S	A	+	1	0	IQGAP1	88797398	1.000000	0.71417	0.332000	0.25469	0.710000	0.40934	9.575000	0.98187	2.635000	0.89317	0.655000	0.94253	GCA		0.478	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		12	152	1	0	0.000219431	0.00245	0.000237717	12	152				
NLRC3	197358	broad.mit.edu	37	16	3615000	3615000	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:3615000C>A	ENST00000301749.7	-	0	443				NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.G60V(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTGGCCCTGGCCGGCCTCCCT	0.687																																							uc010btn.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(37-39)GGC>GTC		NOD3 protein							19.0	24.0	22.0					16																	3615000		1959	4137	6096			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3615000C>A	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3615000C>A							p.G13V	NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN			4	449	-			13					Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP	ENST00000301749.7	37	c.38G>T		.	.	.	.	.	.	.	.	.	.	C	16.85	3.237449	0.58886	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	T;T;T;T	0.80566	-0.53;-0.56;-0.59;-1.39	5.0	5.0	0.66597	.	0.474665	0.22214	N	0.063058	T	0.69940	0.3167	.	.	.	0.09310	N	1	P	0.35433	0.501	B	0.25140	0.058	T	0.66658	-0.5868	9	0.51188	T	0.08	.	13.7894	0.63131	0.0:1.0:0.0:0.0	.	60	C9JLH9	.	V	13;13;13;60;30	ENSP00000301749:G13V;ENSP00000352039:G13V;ENSP00000414415:G60V;ENSP00000323897:G30V	ENSP00000301749:G13V	G	-	2	0	NLRC3	3555001	0.111000	0.22076	0.942000	0.38095	0.846000	0.48090	1.143000	0.31553	2.325000	0.78763	0.655000	0.94253	GGC		0.687	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		20	13	1	0	8.04996e-18	0.001882	1.24866e-17	20	13				
NPIPA1	9284	broad.mit.edu	37	16	15023271	15023271	+	3'UTR	SNP	G	G	T	rs201615507	byFrequency	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:15023271G>T	ENST00000472413.1	+	0	2050							Q9UND3	NPIA1_HUMAN	nuclear pore complex interacting protein family, member A1						mRNA transport (GO:0051028)|protein transport (GO:0015031)	nuclear pore (GO:0005643)											AGCCCCTGACGCTGGCGGGTG	0.697																																							uc010uzk.1		NA																	0					NA						c.(838-840)ACG>ACT		SubName: Full=cDNA FLJ57488, highly similar to Polycystin-1;																																				SO:0001624	3_prime_UTR_variant	0							g.chr16:15023271G>T	AC002045	CCDS10557.1	16p13.11	2013-06-11	2013-06-11	2013-06-11	ENSG00000183426	ENSG00000183426			7909	protein-coding gene	gene with protein product		606406	"""nuclear pore complex interacting protein"""	NPIP		11586358, 18055785	Standard	NM_006985		Approved	morpheus	uc002dcy.4	Q9UND3	OTTHUMG00000090663	ENST00000472413.1:c.*2047G>T	16.37:g.15023271G>T						NPIP_uc002dcx.3_RNA	p.T280T							6	1116	+								O15102	Silent	SNP	ENST00000472413.1	37	c.840G>T																																																																																					0.697	NPIPA1-002	KNOWN	basic|readthrough_transcript	processed_transcript	protein_coding	OTTHUMT00000207327.1	NM_006985		9	63	1	0	1.45105e-14	0.006122	2.11838e-14	9	63				
SMG1	23049	broad.mit.edu	37	16	18844354	18844354	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:18844354C>A	ENST00000446231.2	-	51	9112	c.8700G>T	c.(8698-8700)ctG>ctT	p.L2900L	SMG1_ENST00000389467.3_Silent_p.L2900L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2900					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L2896L(2)|p.L2900L(2)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTAGAGTCTGCAGGGGAACGC	0.468																																							uc002dfm.2		NA																	4	Substitution - coding silent(4)		lung(4)	breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(8698-8700)CTG>CTT		PI-3-kinase-related kinase SMG-1							238.0	228.0	231.0					16																	18844354		1943	4142	6085	SO:0001819	synonymous_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18844354C>A	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.8700G>T	16.37:g.18844354C>A						SMG1_uc010bwb.2_Silent_p.L2760L|SMG1_uc010bwa.2_Silent_p.L1631L	p.L2900L	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			51	9063	-			2900					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	c.8700G>T	CCDS45430.1																																																																																				0.468	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		166	154	1	0	1.03592e-72	0.00361	2.1344e-72	166	154				
GPRC5B	51704	broad.mit.edu	37	16	19883304	19883304	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:19883304G>T	ENST00000300571.2	-	2	1055	c.864C>A	c.(862-864)gcC>gcA	p.A288A	GPRC5B_ENST00000569847.1_Silent_p.A288A|GPRC5B_ENST00000535671.1_Silent_p.A288A|GPRC5B_ENST00000569479.1_Silent_p.A288A|GPRC5B_ENST00000537135.1_Silent_p.A314A	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	288					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)	p.A288A(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TCTCAGGGATGGCGTGGAAGA	0.637																																							uc002dgt.2		NA																	2	Substitution - coding silent(2)		lung(2)	lung(1)|breast(1)|skin(1)	3						c.(862-864)GCC>GCA		G protein-coupled receptor, family C, group 5,							76.0	74.0	75.0					16																	19883304		2197	4300	6497	SO:0001819	synonymous_variant	51704							g.chr16:19883304G>T	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"""GPCR / Class C : Orphans"""	13308	protein-coding gene	gene with protein product		605948	"""G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B"""			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.864C>A	16.37:g.19883304G>T						GPRC5B_uc010vav.1_Silent_p.A314A	p.A288A	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN			2	972	-			288			Helical; Name=7; (Potential).		D2DFB0|O75205|Q8NBZ8	Silent	SNP	ENST00000300571.2	37	c.864C>A	CCDS10581.1																																																																																				0.637	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			39	40	1	0	6.19805e-25	0.005524	1.04127e-24	39	40				
DNAH3	55567	broad.mit.edu	37	16	20976235	20976235	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:20976235G>A	ENST00000261383.3	-	53	8970	c.8971C>T	c.(8971-8973)Cgc>Tgc	p.R2991C	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2991					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.R2991C(4)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTAGTATAGCGGATCCCCAGC	0.532																																							uc010vbe.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(8971-8973)CGC>TGC		dynein, axonemal, heavy chain 3							106.0	106.0	106.0					16																	20976235		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20976235G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.8971C>T	16.37:g.20976235G>A	ENSP00000261383:p.Arg2991Cys					DNAH3_uc010vbd.1_Missense_Mutation_p.R426C	p.R2991C	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	8971	-			2991					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.8971C>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	8.460	0.855172	0.17106	.	.	ENSG00000158486	ENST00000261383	T	0.74947	-0.89	6.17	3.07	0.35406	Dynein heavy chain, coiled coil stalk (1);	0.200037	0.41396	D	0.000897	D	0.83667	0.5304	M	0.85299	2.745	0.09310	N	0.999992	D	0.76494	0.999	P	0.59761	0.863	T	0.76096	-0.3084	10	0.56958	D	0.05	.	11.1768	0.48603	0.0:0.1193:0.5098:0.3709	.	2991	Q8TD57	DYH3_HUMAN	C	2991	ENSP00000261383:R2991C	ENSP00000261383:R2991C	R	-	1	0	DNAH3	20883736	1.000000	0.71417	0.000000	0.03702	0.002000	0.02628	3.253000	0.51469	0.440000	0.26502	-0.181000	0.13052	CGC		0.532	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		80	62	0	0	0	0.00361	0	80	62				
PRKCB	5579	broad.mit.edu	37	16	24166177	24166178	+	Splice_Site	DNP	TG	TG	AT	rs201855972		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:24166177_24166178TG>AT	ENST00000321728.7	+	10	1413_1414	c.1238_1239TG>AT	c.(1237-1239)aTG>aAT	p.M413N	PRKCB_ENST00000303531.7_Splice_Site_p.M413N	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	413	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.M413N(4)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	TTCCAGACCATGGTAACTTGTC	0.584																																							uc002dmd.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9						c.(1237-1239)ATG>AAT		protein kinase C, beta isoform 1	Vitamin E(DB00163)																																			SO:0001630	splice_region_variant	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24166177_24166178TG>AT	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	Exception_encountered	16.37:g.24166177_24166178delinsAT						PRKCB_uc002dme.2_Missense_Mutation_p.M413N	p.M413N	NM_212535	NP_997700	P05771	KPCB_HUMAN			10	1435_1436	+			413			Protein kinase.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	DNP	ENST00000321728.7	37	c.1238_1239TG>AT	CCDS10618.1																																																																																				0.584	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535	Missense_Mutation	21	21	0	0	0	0.004672	0	21	21				
ITGAL	3683	broad.mit.edu	37	16	30492758	30492758	+	Splice_Site	SNP	A	A	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:30492758A>G	ENST00000356798.6	+	7	756		c.e7-1		ITGAL_ENST00000454514.2_Splice_Site|RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Splice_Site|RNU7-61P_ENST00000515897.1_RNA|RP11-297C4.3_ENST00000562525.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)						activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)	p.?(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TTCCTTTTCTAGTTTGCTGCT	0.338																																					NSCLC(110;1462 1641 3311 33990 49495)	NSCLC(110;1462 1641 3311 33990 49495)	uc002dyi.3		NA																	2	Unknown(2)		lung(2)	ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10						c.e7-2		integrin alpha L isoform a precursor	Efalizumab(DB00095)						86.0	78.0	80.0					16																	30492758		2197	4300	6497	SO:0001630	splice_region_variant	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30492758A>G		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.577-1A>G	16.37:g.30492758A>G						ITGAL_uc010veu.1_Splice_Site|ITGAL_uc002dyj.3_Splice_Site_p.F110_splice|ITGAL_uc010vev.1_Intron	p.F193_splice	NM_002209	NP_002200	P20701	ITAL_HUMAN			7	753	+								O43746|Q45H73|Q96HB1|Q9UBC8	Splice_Site	SNP	ENST00000356798.6	37	c.577_splice	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	A	18.95	3.732443	0.69189	.	.	ENSG00000005844	ENST00000356798;ENST00000358164;ENST00000454514	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3747	0.60732	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITGAL	30400259	1.000000	0.71417	0.985000	0.45067	0.995000	0.86356	6.082000	0.71318	2.148000	0.66965	0.438000	0.28831	.		0.338	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2		Intron	19	27	0	0	0	0.008871	0	19	27				
AP1G1	164	broad.mit.edu	37	16	71768563	71768563	+	Silent	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:71768563T>C	ENST00000299980.4	-	22	2757	c.2316A>G	c.(2314-2316)gcA>gcG	p.A772A	AP1G1_ENST00000433195.2_Silent_p.A795A|AP1G1_ENST00000423132.2_Silent_p.A775A|AP1G1_ENST00000564155.1_Silent_p.A197A|AP1G1_ENST00000393512.3_Silent_p.A775A|AP1G1_ENST00000569748.1_Silent_p.A772A	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	772	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				CCGTGTTAAATGCTGGGACAA	0.463																																							uc010cgg.2		NA																	0				ovary(2)	2						c.(2314-2316)GCA>GCG		adaptor-related protein complex 1, gamma 1							242.0	238.0	240.0					16																	71768563		2198	4300	6498	SO:0001819	synonymous_variant	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71768563T>C	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.2316A>G	16.37:g.71768563T>C						AP1G1_uc002fba.2_Silent_p.A775A|AP1G1_uc002fbb.2_Silent_p.A795A|AP1G1_uc002faz.2_Silent_p.A189A	p.A772A	NM_001128	NP_001119	O43747	AP1G1_HUMAN			22	2630	-		Ovarian(137;0.125)	772			GAE.		O75709|O75842|Q9UG09|Q9Y3U4	Silent	SNP	ENST00000299980.4	37	c.2316A>G	CCDS32480.1																																																																																				0.463	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			8	423	0	0	0	0.004482	0	8	423				
MINK1	50488	broad.mit.edu	37	17	4794819	4794819	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:4794819G>A	ENST00000355280.6	+	16	2005	c.1809G>A	c.(1807-1809)caG>caA	p.Q603Q	MINK1_ENST00000453408.3_Silent_p.Q583Q|MINK1_ENST00000347992.7_Silent_p.Q603Q	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2			misshapen-like kinase 1									p.Q603Q(2)		central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						AGTCCCTGCAGGACCAGCCCA	0.682																																							uc010vsl.1		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(1807-1809)CAG>CAA		misshapen-like kinase 1 isoform 3							39.0	51.0	47.0					17																	4794819		2088	4214	6302	SO:0001819	synonymous_variant	50488				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr17:4794819G>A	AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503			17565	protein-coding gene	gene with protein product	"""misshapen/NIK-related kinase"""	609426	"""misshapen-like kinase 1 (zebrafish)"""			10708748, 12087176	Standard	NM_015716		Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.1809G>A	17.37:g.4794819G>A						MINK1_uc010vsk.1_Silent_p.Q603Q|MINK1_uc010vsm.1_Silent_p.Q583Q|MINK1_uc010vsn.1_Silent_p.Q603Q|MINK1_uc010vso.1_Silent_p.Q548Q|MINK1_uc010vsp.1_Silent_p.Q93Q	p.Q603Q	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN			16	2005	+			603						Silent	SNP	ENST00000355280.6	37	c.1809G>A	CCDS45588.1																																																																																				0.682	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439801.1	NM_015716		3	10	0	0	0	0.009096	0	3	10				
NLRP1	22861	broad.mit.edu	37	17	5462598	5462598	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:5462598G>A	ENST00000572272.1	-	4	1417	c.1418C>T	c.(1417-1419)gCa>gTa	p.A473V	NLRP1_ENST00000262467.5_Missense_Mutation_p.A473V|NLRP1_ENST00000577119.1_Missense_Mutation_p.A473V|NLRP1_ENST00000345221.3_Missense_Mutation_p.A473V|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Missense_Mutation_p.A473V|NLRP1_ENST00000354411.3_Missense_Mutation_p.A473V			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	473	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)	p.A473V(6)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TACCCAACGTGCCTGCTCCAA	0.502																																							uc002gci.2		NA																	6	Substitution - Missense(6)		lung(6)	lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9						c.(1417-1419)GCA>GTA		NLR family, pyrin domain containing 1 isoform 1							46.0	49.0	48.0					17																	5462598		2203	4300	6503	SO:0001583	missense	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5462598G>A	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.1418C>T	17.37:g.5462598G>A	ENSP00000460475:p.Ala473Val					NLRP1_uc002gcg.1_Missense_Mutation_p.A473V|NLRP1_uc002gck.2_Missense_Mutation_p.A473V|NLRP1_uc002gcj.2_Missense_Mutation_p.A473V|NLRP1_uc002gcl.2_Missense_Mutation_p.A473V|NLRP1_uc002gch.3_Missense_Mutation_p.A473V|NLRP1_uc010clh.2_Missense_Mutation_p.A473V	p.A473V	NM_033004	NP_127497	Q9C000	NALP1_HUMAN			4	1973	-		Colorectal(1115;3.48e-05)	473			NACHT.		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.1418C>T	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697066	0.48202	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	4.45	2.45	0.29901	NACHT nucleoside triphosphatase (1);	0.747973	0.11104	N	0.599295	T	0.68384	0.2995	N	0.14661	0.345	0.09310	N	1	P;P;P;P;P	0.38223	0.57;0.57;0.623;0.57;0.623	B;B;B;B;B	0.41988	0.255;0.255;0.372;0.255;0.372	T	0.60052	-0.7338	10	0.87932	D	0	.	7.0728	0.25187	0.2076:0.0:0.7924:0.0	.	473;473;473;473;473	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	V	473	ENSP00000442029:A473V;ENSP00000262467:A473V;ENSP00000269280:A473V;ENSP00000346390:A473V;ENSP00000324366:A473V	ENSP00000262467:A473V	A	-	2	0	NLRP1	5403322	0.001000	0.12720	0.001000	0.08648	0.183000	0.23260	0.934000	0.28910	0.629000	0.30376	0.650000	0.86243	GCA		0.502	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		8	31	0	0	0	0.004482	0	8	31				
TP53	7157	broad.mit.edu	37	17	7578556	7578556	+	Splice_Site	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:7578556T>A	ENST00000269305.4	-	5	565		c.e5-2		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site	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						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.?(34)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	AGGGGAGTACTGTAGGAAGAG	0.552		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)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		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		46	Unknown(34)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	p.?(14)|p.0?(7)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	lung(19)|breast(7)|central_nervous_system(4)|ovary(4)|bone(4)|upper_aerodigestive_tract(2)|large_intestine(2)|oesophagus(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(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						c.e5-1	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							41.0	42.0	41.0					17																	7578556		2203	4300	6503	SO:0001630	splice_region_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|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.chr17:7578556T>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.376-2A>T	17.37:g.7578556T>A		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_Splice_Site_p.Y126_splice|TP53_uc002gih.2_Splice_Site_p.Y126_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Splice_Site_p.Y126_splice|TP53_uc010cni.1_Splice_Site_p.Y126_splice|TP53_uc002gij.2_Splice_Site_p.Y126_splice|TP53_uc010cnj.1_Splice_Site|TP53_uc002gin.2_Splice_Site_p.Y33_splice|TP53_uc002gio.2_Splice_Site|TP53_uc010vug.1_Splice_Site_p.Y87_splice	p.Y126_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	570	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	SNP	ENST00000269305.4	37	c.376_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	17.69	3.452205	0.63290	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6026	0.45375	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519281	1.000000	0.71417	0.994000	0.49952	0.902000	0.53008	6.214000	0.72200	2.078000	0.62432	0.533000	0.62120	.		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	17	24	0	0	0	0.00499	0	17	24				
GLP2R	9340	broad.mit.edu	37	17	9757860	9757860	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:9757860G>T	ENST00000262441.5	+	5	1066	c.553G>T	c.(553-555)Gga>Tga	p.G185*	GLP2R_ENST00000574745.1_Nonsense_Mutation_p.G5*	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	185					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)	p.G185*(2)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	GTACACCGTGGGATACTCCTT	0.517																																							uc002gmd.1		NA																	2	Substitution - Nonsense(2)		lung(2)	lung(2)|ovary(1)	3						c.(553-555)GGA>TGA		glucagon-like peptide 2 receptor precursor	Glucagon recombinant(DB00040)						675.0	532.0	580.0					17																	9757860		2203	4300	6503	SO:0001587	stop_gained	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9757860G>T	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.553G>T	17.37:g.9757860G>T	ENSP00000262441:p.Gly185*						p.G185*	NM_004246	NP_004237	O95838	GLP2R_HUMAN			5	553	+			185			Helical; Name=1; (Potential).		Q4VAT3	Nonsense_Mutation	SNP	ENST00000262441.5	37	c.553G>T	CCDS11150.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.798466|5.798466	0.96960|0.96960	.|.	.|.	ENSG00000065325|ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441|ENST00000458005	.|.	.|.	.|.	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	0.000000|.	0.39544|.	N|.	0.001327|.	.|T	.|0.71542	.|0.3352	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72944	.|-0.4138	.|3	0.87932|.	D|.	0|.	.|.	16.2247|16.2247	0.82284|0.82284	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|C	185;160;185|37	.|.	ENSP00000262441:G185X|.	G|W	+|+	1|3	0|0	GLP2R|GLP2R	9698585|9698585	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	8.614000|8.614000	0.90917|0.90917	2.760000|2.760000	0.94817|0.94817	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.517	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			80	288	1	0	3.73172e-31	0.00361	6.81444e-31	80	288				
MYH8	4626	broad.mit.edu	37	17	10322326	10322326	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:10322326G>T	ENST00000403437.2	-	4	326	c.232C>A	c.(232-234)Caa>Aaa	p.Q78K	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	78					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.Q78K(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GGGAAGACTTGGTCTTCCCTG	0.448									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																														uc002gmm.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(3)|breast(2)	11						c.(232-234)CAA>AAA		myosin, heavy chain 8, skeletal muscle,							125.0	113.0	117.0					17																	10322326		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10322326G>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.232C>A	17.37:g.10322326G>T	ENSP00000384330:p.Gln78Lys					uc002gml.1_Intron	p.Q78K	NM_002472	NP_002463	P13535	MYH8_HUMAN			4	327	-			78			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.232C>A	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929180	0.34096	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.80393	-1.37	3.33	3.33	0.38152	Myosin, N-terminal, SH3-like (1);	0.000000	0.40222	U	0.001157	T	0.76069	0.3936	M	0.64567	1.98	0.42902	D	0.994237	B	0.09022	0.002	B	0.10450	0.005	T	0.74609	-0.3608	10	0.41790	T	0.15	.	11.2687	0.49124	0.0:0.1857:0.8143:0.0	.	78	P13535	MYH8_HUMAN	K	78	ENSP00000384330:Q78K	ENSP00000252173:Q78K	Q	-	1	0	MYH8	10263051	0.998000	0.40836	1.000000	0.80357	0.804000	0.45430	2.945000	0.49043	1.871000	0.54225	0.460000	0.39030	CAA		0.448	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		20	58	1	0	8.34094e-07	0.008871	9.83618e-07	20	58				
TLCD1	116238	broad.mit.edu	37	17	27051724	27051724	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:27051724C>A	ENST00000292090.3	-	4	658	c.548G>T	c.(547-549)cGc>cTc	p.R183L	AC010761.8_ENST00000582718.1_RNA|TLCD1_ENST00000394933.3_Missense_Mutation_p.R136L|SNORD42A_ENST00000459584.1_RNA|SNORD4B_ENST00000459083.1_RNA|SNORD4A_ENST00000459174.1_RNA|AC010761.14_ENST00000587898.1_RNA	NM_138463.3	NP_612472.1	Q96CP7	TLCD1_HUMAN	TLC domain containing 1	183	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R183L(2)		breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					AGGGGCCAGGCGGAAGAGAAA	0.517																																							uc002hco.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(547-549)CGC>CTC		TLC domain containing 1 isoform 1							137.0	114.0	122.0					17																	27051724		2203	4300	6503	SO:0001583	missense	116238					integral to membrane		g.chr17:27051724C>A	BC014072	CCDS11242.1, CCDS54102.1	17q11.2	2007-03-23			ENSG00000160606	ENSG00000160606			25177	protein-coding gene	gene with protein product						12151215	Standard	NM_138463		Approved		uc002hco.3	Q96CP7	OTTHUMG00000132683	ENST00000292090.3:c.548G>T	17.37:g.27051724C>A	ENSP00000292090:p.Arg183Leu					TLCD1_uc010waw.1_Missense_Mutation_p.R136L	p.R183L	NM_138463	NP_612472	Q96CP7	TLCD1_HUMAN			4	663	-	Lung NSC(42;0.00431)		183			TLC.|Helical; (Potential).		A8MYP9	Missense_Mutation	SNP	ENST00000292090.3	37	c.548G>T	CCDS11242.1	.	.	.	.	.	.	.	.	.	.	C	35	5.418863	0.96092	.	.	ENSG00000160606	ENST00000292090;ENST00000394933	D;D	0.99760	-6.66;-6.66	5.79	5.79	0.91817	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.99729	0.9894	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97536	1.0083	10	0.87932	D	0	-13.8044	17.1798	0.86852	0.0:1.0:0.0:0.0	.	136;183	A8MYP9;Q96CP7	.;TLCD1_HUMAN	L	183;136	ENSP00000292090:R183L;ENSP00000378391:R136L	ENSP00000292090:R183L	R	-	2	0	TLCD1	24075851	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.708000	0.74660	2.743000	0.94032	0.462000	0.41574	CGC		0.517	TLCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255973.1	NM_138463		35	181	1	0	4.3181e-19	0.002836	6.81411e-19	35	181				
EVI2A	2123	broad.mit.edu	37	17	29645450	29645450	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:29645450G>T	ENST00000462804.2	-	2	981	c.582C>A	c.(580-582)gaC>gaA	p.D194E	NF1_ENST00000581113.2_3'UTR|EVI2A_ENST00000247270.3_Missense_Mutation_p.D217E|NF1_ENST00000358273.4_Intron|EVI2A_ENST00000461237.1_Missense_Mutation_p.D194E|CTD-2370N5.3_ENST00000578584.1_Missense_Mutation_p.H134N|NF1_ENST00000356175.3_Intron	NM_014210.3	NP_055025.2	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	194					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.0?(8)|p.?(3)|p.D217E(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		TTTTCCAAGTGTCTGATTCAG	0.468																																							uc002hgm.2		NA																	13	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(2)		soft_tissue(7)|lung(3)|autonomic_ganglia(2)|central_nervous_system(1)	ovary(1)|breast(1)	2						c.(580-582)GAC>GAA		ecotropic viral integration site 2A isoform 2							93.0	79.0	84.0					17																	29645450		2203	4300	6503	SO:0001583	missense	2123					integral to membrane	transmembrane receptor activity	g.chr17:29645450G>T	M55267	CCDS32608.1, CCDS42293.1	17q11.2	2008-07-18			ENSG00000126860	ENSG00000126860			3499	protein-coding gene	gene with protein product		158380		EVI2		2117566	Standard	NM_014210		Approved	EVDA	uc002hgm.3	P22794	OTTHUMG00000159306	ENST00000462804.2:c.582C>A	17.37:g.29645450G>T	ENSP00000420557:p.Asp194Glu					NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2A_uc002hgl.2_Missense_Mutation_p.D217E	p.D194E	NM_014210	NP_055025	P22794	EVI2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)	2	797	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	194			Cytoplasmic (Potential).		B2R5X2|B4DHX8	Missense_Mutation	SNP	ENST00000462804.2	37	c.582C>A	CCDS42293.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742566	0.69418	.	.	ENSG00000126860	ENST00000394755;ENST00000462804;ENST00000461237;ENST00000247270	.	.	.	5.71	4.74	0.60224	.	0.147242	0.46758	D	0.000264	T	0.48960	0.1529	L	0.50333	1.59	0.80722	D	1	D;P	0.52996	0.957;0.946	P;P	0.50490	0.642;0.637	T	0.46843	-0.9162	9	0.10636	T	0.68	.	7.6767	0.28490	0.0794:0.0:0.6686:0.252	.	194;217	P22794;P22794-2	EVI2A_HUMAN;.	E	194;190;194;217	.	ENSP00000247270:D217E	D	-	3	2	EVI2A	26669576	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.291000	0.18994	1.419000	0.47118	0.655000	0.94253	GAC		0.468	EVI2A-001	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354491.3	NM_014210		33	41	1	0	5.60225e-13	0.009535	7.9657e-13	33	41				
NF1	4763	broad.mit.edu	37	17	29657518	29657518	+	Splice_Site	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:29657518T>A	ENST00000358273.4	+	39	6195		c.e39+2		NF1_ENST00000581113.2_Splice_Site|NF1_ENST00000356175.3_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(7)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCAAATCTAGTAAGTAATGAT	0.323			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													uc002hgg.2		NA	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		15	Whole gene deletion(8)|Unknown(7)		soft_tissue(7)|lung(5)|autonomic_ganglia(2)|central_nervous_system(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	GRCh37	CS941515	NF1	S		c.e39+2		neurofibromin isoform 1							50.0	51.0	50.0					17																	29657518		2203	4300	6503	SO:0001630	splice_region_variant	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29657518T>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5812+2T>A	17.37:g.29657518T>A		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Splice_Site_p.S1917_splice|NF1_uc002hgi.1_Missense_Mutation_p.S950R|NF1_uc010cso.2_Splice_Site_p.S126_splice	p.S1938_splice	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	39	6145	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)						O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	ENST00000358273.4	37	c.5812_splice	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.077458	0.76528	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7241	0.69329	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF1	26681644	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.622000	0.83099	2.123000	0.65237	0.528000	0.53228	.		0.323	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Intron	41	37	0	0	0	0.006999	0	41	37				
NF1	4763	broad.mit.edu	37	17	29667614	29667614	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:29667614T>A	ENST00000358273.4	+	47	7396	c.7013T>A	c.(7012-7014)cTt>cAt	p.L2338H	NF1_ENST00000417592.2_Missense_Mutation_p.L51H|NF1_ENST00000356175.3_Missense_Mutation_p.L2317H|NF1_ENST00000444181.2_Missense_Mutation_p.L131H	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2338					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.L2338H(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACCGCACTTCTTGAACAAAAC	0.443			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													uc002hgg.2		NA	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		13	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(2)	p.L2338fs*8(1)	soft_tissue(7)|lung(3)|autonomic_ganglia(2)|central_nervous_system(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	GRCh37	CM994667	NF1	M		c.(7012-7014)CTT>CAT		neurofibromin isoform 1							111.0	98.0	102.0					17																	29667614		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29667614T>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7013T>A	17.37:g.29667614T>A	ENSP00000351015:p.Leu2338His	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Missense_Mutation_p.L2317H|NF1_uc010cso.2_Missense_Mutation_p.L526H|NF1_uc010wbt.1_Translation_Start_Site|NF1_uc010wbu.1_RNA	p.L2338H	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	47	7346	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2338					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.7013T>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.796626	0.90453	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181;ENST00000417592	T;T;T;T	0.78364	0.5;0.5;0.5;-1.17	6.04	6.04	0.98038	Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	D	0.88303	0.6400	M	0.78049	2.395	0.58432	D	0.999997	D;D	0.89917	0.999;1.0	D;D	0.81914	0.995;0.993	D	0.89488	0.3755	10	0.87932	D	0	.	16.6349	0.85050	0.0:0.0:0.0:1.0	.	2317;2338	P21359-2;P21359	.;NF1_HUMAN	H	2338;2317;1983;131;51	ENSP00000351015:L2338H;ENSP00000348498:L2317H;ENSP00000389907:L1983H;ENSP00000396481:L131H	ENSP00000348498:L2317H	L	+	2	0	NF1	26691740	1.000000	0.71417	0.994000	0.49952	0.899000	0.52679	7.443000	0.80521	2.330000	0.79161	0.477000	0.44152	CTT		0.443	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		8	84	0	0	0	0.00308	0	8	84				
GAS2L2	246176	broad.mit.edu	37	17	34073054	34073054	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:34073054G>C	ENST00000254466.6	-	6	1489	c.1462C>G	c.(1462-1464)Cca>Gca	p.P488A	GAS2L2_ENST00000587565.1_Missense_Mutation_p.P472A	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	488					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)	p.P488A(2)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACAGACTCTGGCTCCCTGAAC	0.642																																							uc002hjv.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1462-1464)CCA>GCA		growth arrest-specific 2 like 2							108.0	110.0	109.0					17																	34073054		2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34073054G>C	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1462C>G	17.37:g.34073054G>C	ENSP00000254466:p.Pro488Ala						p.P488A	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	1490	-		Ovarian(249;0.17)	488					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.1462C>G	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530656	0.27387	.	.	ENSG00000132139	ENST00000254466	T	0.18657	2.2	5.19	0.707	0.18139	.	0.703928	0.13161	N	0.409031	T	0.12987	0.0315	L	0.32530	0.975	0.09310	N	1	B	0.30406	0.278	B	0.27887	0.084	T	0.19614	-1.0300	10	0.44086	T	0.13	-0.5058	5.0121	0.14317	0.1666:0.0:0.5404:0.2929	.	488	Q8NHY3	GA2L2_HUMAN	A	488	ENSP00000254466:P488A	ENSP00000254466:P488A	P	-	1	0	GAS2L2	31097167	0.000000	0.05858	0.307000	0.25127	0.645000	0.38454	0.106000	0.15354	0.723000	0.32274	0.655000	0.94253	CCA		0.642	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		102	98	0	0	0	0.00361	0	102	98				
DHRS11	79154	broad.mit.edu	37	17	34951468	34951468	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:34951468C>T	ENST00000251312.5	+	2	427	c.215C>T	c.(214-216)tCa>tTa	p.S72L	DHRS11_ENST00000590554.1_5'UTR|DHRS11_ENST00000394445.1_3'UTR	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	72						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)	p.S72L(2)		endometrium(1)|lung(4)	5						TGTGACCTATCAAATGAAGAG	0.537																																							uc002hnd.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(214-216)TCA>TTA		short-chain dehydrogenase/reductase precursor							132.0	117.0	122.0					17																	34951468		2203	4300	6503	SO:0001583	missense	79154					extracellular region	binding|oxidoreductase activity	g.chr17:34951468C>T		CCDS11315.2	17q12	2014-05-06			ENSG00000108272	ENSG00000278535		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	28639	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 24C, member 1"""					12975309, 19027726	Standard	NM_024308		Approved	MGC4172, SDR24C1	uc002hnd.3	Q6UWP2	OTTHUMG00000188442	ENST00000251312.5:c.215C>T	17.37:g.34951468C>T	ENSP00000251312:p.Ser72Leu						p.S72L	NM_024308	NP_077284	Q6UWP2	DHR11_HUMAN			2	429	+			72					B2RDZ3|Q9BUC7|Q9H674	Missense_Mutation	SNP	ENST00000251312.5	37	c.215C>T	CCDS11315.2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313368	0.81358	.	.	ENSG00000108272	ENST00000251312;ENST00000394445	D	0.88277	-2.36	5.82	5.82	0.92795	NAD(P)-binding domain (1);	0.284197	0.40728	N	0.001021	D	0.92890	0.7738	M	0.76002	2.32	0.80722	D	1	D	0.56968	0.978	P	0.54629	0.757	D	0.92913	0.6349	10	0.59425	D	0.04	-18.6425	19.0734	0.93150	0.0:1.0:0.0:0.0	.	72	Q6UWP2	DHR11_HUMAN	L	72	ENSP00000251312:S72L	ENSP00000251312:S72L	S	+	2	0	DHRS11	32025581	1.000000	0.71417	0.126000	0.21872	0.759000	0.43091	5.496000	0.66918	2.752000	0.94435	0.655000	0.94253	TCA		0.537	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256681.2	NM_024308		21	128	0	0	0	0.010504	0	21	128				
PLXDC1	57125	broad.mit.edu	37	17	37264449	37264449	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:37264449C>A	ENST00000315392.4	-	5	730	c.519G>T	c.(517-519)caG>caT	p.Q173H	PLXDC1_ENST00000444911.2_Missense_Mutation_p.Q133H|PLXDC1_ENST00000394316.2_Missense_Mutation_p.Q173H|PLXDC1_ENST00000539608.1_Missense_Mutation_p.Q100H|PLXDC1_ENST00000493200.1_5'UTR	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	173					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)	p.Q173H(2)		kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GCGCCACATACTGAGTAGCTG	0.537																																							uc002hrg.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.(517-519)CAG>CAT		plexin domain containing 1 precursor							132.0	130.0	130.0					17																	37264449		2203	4300	6503	SO:0001583	missense	57125				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		g.chr17:37264449C>A	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.519G>T	17.37:g.37264449C>A	ENSP00000323927:p.Gln173His					uc002hrf.1_3'UTR|PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA	p.Q173H	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN			5	731	-			173			Extracellular (Potential).		B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Missense_Mutation	SNP	ENST00000315392.4	37	c.519G>T	CCDS11333.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.541824	0.45280	.	.	ENSG00000161381	ENST00000315392;ENST00000394318;ENST00000539608;ENST00000444911;ENST00000394316;ENST00000441877;ENST00000415163	T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	5.7	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.88876	0.6556	M	0.79475	2.455	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.89767	0.3951	10	0.62326	D	0.03	-23.0355	13.4004	0.60879	0.0:0.924:0.0:0.076	.	173	Q8IUK5	PXDC1_HUMAN	H	173;100;100;133;173;100;100	ENSP00000323927:Q173H;ENSP00000441881:Q100H;ENSP00000409687:Q133H;ENSP00000377851:Q173H;ENSP00000393227:Q100H;ENSP00000416819:Q100H	ENSP00000323927:Q173H	Q	-	3	2	PLXDC1	34517975	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	2.518000	0.45537	1.419000	0.47118	-0.136000	0.14681	CAG		0.537	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405		84	126	1	0	6.71967e-41	0.00361	1.29644e-40	84	126				
CASC3	22794	broad.mit.edu	37	17	38318060	38318060	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:38318060G>A	ENST00000264645.7	+	4	578	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	118					gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)	p.E118K(2)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GCTGAAATCAGAAGCTAATGA	0.438																																							uc010cwt.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(352-354)GAA>AAA		metastatic lymph node 51							95.0	95.0	95.0					17																	38318060		2203	4300	6503	SO:0001583	missense	22794				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	g.chr17:38318060G>A	X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.352G>A	17.37:g.38318060G>A	ENSP00000264645:p.Glu118Lys					CASC3_uc010cws.1_Missense_Mutation_p.E118K|CASC3_uc002hue.2_Missense_Mutation_p.E118K	p.E118K	NM_007359	NP_031385	O15234	CASC3_HUMAN			4	647	+			118			Potential.		A8K8R0	Missense_Mutation	SNP	ENST00000264645.7	37	c.352G>A	CCDS11362.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356199	0.61293	.	.	ENSG00000108349	ENST00000264645;ENST00000418132;ENST00000394114	.	.	.	5.89	5.89	0.94794	.	0.306645	0.34777	N	0.003699	T	0.65668	0.2713	N	0.20986	0.625	0.80722	D	1	D;D	0.69078	0.997;0.993	D;D	0.75020	0.985;0.971	T	0.65586	-0.6132	9	0.46703	T	0.11	-15.3394	19.0273	0.92937	0.0:0.0:1.0:0.0	.	118;118	B4DKR6;O15234	.;CASC3_HUMAN	K	118	.	ENSP00000264645:E118K	E	+	1	0	CASC3	35571586	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.061000	0.71148	2.789000	0.95967	0.603000	0.83216	GAA		0.438	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3	NM_007359		44	84	0	0	0	0.009718	0	44	84				
KRT28	162605	broad.mit.edu	37	17	38950232	38950232	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:38950232G>A	ENST00000306658.7	-	6	1110	c.1045C>T	c.(1045-1047)Cag>Tag	p.Q349*		NM_181535.3	NP_853513.2			keratin 28									p.Q349*(2)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				ATCTGAGCCTGGATCTGCGCC	0.582																																					Melanoma(19;789 869 15380 26882 39836)	Melanoma(19;789 869 15380 26882 39836)	uc002hvh.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(1045-1047)CAG>TAG		keratin 25D							134.0	137.0	136.0					17																	38950232		2203	4300	6503	SO:0001587	stop_gained	162605					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38950232G>A	AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.1045C>T	17.37:g.38950232G>A	ENSP00000305263:p.Gln349*						p.Q349*	NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN			6	1111	-		Breast(137;0.000301)	349			Rod.|Coil 2.			Nonsense_Mutation	SNP	ENST00000306658.7	37	c.1045C>T	CCDS11376.1	.	.	.	.	.	.	.	.	.	.	G	37	6.499747	0.97616	.	.	ENSG00000173908	ENST00000306658	.	.	.	5.7	5.7	0.88788	.	0.000000	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1857	0.93642	0.0:0.0:1.0:0.0	.	.	.	.	X	349	.	ENSP00000305263:Q349X	Q	-	1	0	KRT28	36203758	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.577000	0.74027	2.846000	0.97976	0.650000	0.86243	CAG		0.582	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		149	167	0	0	0	0.00361	0	149	167				
KRTAP3-1	83896	broad.mit.edu	37	17	39165133	39165133	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:39165133C>G	ENST00000391588.1	-	1	233	c.194G>C	c.(193-195)tGc>tCc	p.C65S	KRTAP3-1_ENST00000581033.1_5'UTR	NM_031958.1	NP_114164.1	Q9BYR8	KRA31_HUMAN	keratin associated protein 3-1	65						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.C65S(2)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00043)				GAGCAGCCAGCAAGTTGGCAC	0.597																																							uc002hvt.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(193-195)TGC>TCC		keratin associated protein 3.1							78.0	66.0	70.0					17																	39165133		2203	4296	6499	SO:0001583	missense	83896					keratin filament	structural molecule activity	g.chr17:39165133C>G	AJ406931	CCDS32645.1	17q21.2	2013-06-25			ENSG00000212901	ENSG00000212901		"""Keratin associated proteins"""	16778	protein-coding gene	gene with protein product						11279113	Standard	NM_031958		Approved	KAP3.1	uc002hvt.1	Q9BYR8	OTTHUMG00000133595	ENST00000391588.1:c.194G>C	17.37:g.39165133C>G	ENSP00000375430:p.Cys65Ser						p.C65S	NM_031958	NP_114164	Q9BYR8	KRA31_HUMAN			1	234	-		Breast(137;0.00043)	65					Q14DM4	Missense_Mutation	SNP	ENST00000391588.1	37	c.194G>C	CCDS32645.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509897	0.64522	.	.	ENSG00000212901	ENST00000391588	T	0.32272	1.46	5.3	5.3	0.74995	.	0.000000	0.53938	D	0.000042	T	0.54078	0.1836	.	.	.	0.42476	D	0.992841	D	0.62365	0.991	D	0.78314	0.991	T	0.52487	-0.8569	9	0.45353	T	0.12	-11.4801	14.865	0.70406	0.0:1.0:0.0:0.0	.	65	Q9BYR8	KRA31_HUMAN	S	65	ENSP00000375430:C65S	ENSP00000375430:C65S	C	-	2	0	KRTAP3-1	36418659	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	3.414000	0.52693	2.647000	0.89833	0.632000	0.83419	TGC		0.597	KRTAP3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257699.1			36	44	0	0	0	0.004878	0	36	44				
GFAP	2670	broad.mit.edu	37	17	42988648	42988648	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:42988648G>T	ENST00000253408.5	-	6	1148	c.1083C>A	c.(1081-1083)atC>atA	p.I361I	GFAP_ENST00000586793.1_Silent_p.I361I|GFAP_ENST00000435360.2_Silent_p.I361I|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000591327.1_5'Flank	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	361	Coil 2B.|Rod.				astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)	p.I361I(4)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TGGCGATCTCGATGTCCAGGG	0.632																																							uc002ihq.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(1)|pancreas(1)	2						c.(1081-1083)ATC>ATA		glial fibrillary acidic protein isoform 1							88.0	81.0	83.0					17																	42988648		2203	4300	6503	SO:0001819	synonymous_variant	2670					cytoplasm|intermediate filament	structural constituent of cytoskeleton	g.chr17:42988648G>T	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"""Intermediate filaments type III"""	4235	protein-coding gene	gene with protein product	"""intermediate filament protein"""	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.1083C>A	17.37:g.42988648G>T						GFAP_uc002ihr.2_Silent_p.I361I|GFAP_uc010wjg.1_RNA	p.I361I	NM_002055	NP_002046	P14136	GFAP_HUMAN			6	1143	-		Prostate(33;0.0959)	361			Coil 2B.|Rod.		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Silent	SNP	ENST00000253408.5	37	c.1083C>A	CCDS11491.1																																																																																				0.632	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		54	80	1	0	1.0442e-30	0.00361	1.89413e-30	54	80				
GFAP	2670	broad.mit.edu	37	17	42989121	42989121	+	Silent	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:42989121G>C	ENST00000253408.5	-	5	890	c.825C>G	c.(823-825)ctC>ctG	p.L275L	GFAP_ENST00000586793.1_Silent_p.L275L|GFAP_ENST00000435360.2_Silent_p.L275L|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000591327.1_5'Flank	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	275	Coil 2B.|Rod.				astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)	p.L275L(4)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TGGCCTGGCGGAGCAGCTCCG	0.677																																							uc002ihq.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(1)|pancreas(1)	2						c.(823-825)CTC>CTG		glial fibrillary acidic protein isoform 1							49.0	47.0	48.0					17																	42989121		2203	4300	6503	SO:0001819	synonymous_variant	2670					cytoplasm|intermediate filament	structural constituent of cytoskeleton	g.chr17:42989121G>C	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"""Intermediate filaments type III"""	4235	protein-coding gene	gene with protein product	"""intermediate filament protein"""	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.825C>G	17.37:g.42989121G>C						GFAP_uc002ihr.2_Silent_p.L275L|GFAP_uc010wjg.1_RNA	p.L275L	NM_002055	NP_002046	P14136	GFAP_HUMAN			5	885	-		Prostate(33;0.0959)	275			Coil 2B.|Rod.		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Silent	SNP	ENST00000253408.5	37	c.825C>G	CCDS11491.1																																																																																				0.677	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		38	52	0	0	0	0.00874	0	38	52				
HOXB8	3218	broad.mit.edu	37	17	46690585	46690585	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:46690585C>A	ENST00000239144.4	-	2	945	c.711G>T	c.(709-711)gcG>gcT	p.A237A	HOXB8_ENST00000576562.1_Silent_p.A236A|HOXB7_ENST00000239165.7_5'Flank|HOXB7_ENST00000567101.2_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	237					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|dorsal spinal cord development (GO:0021516)|embryonic skeletal system morphogenesis (GO:0048704)|grooming behavior (GO:0007625)|negative regulation of myeloid cell differentiation (GO:0045638)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A237A(2)		large_intestine(1)|lung(8)|urinary_tract(2)	11						CGCCCTTCTGCGCGTCGCCCT	0.706																																							uc002inw.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(709-711)GCG>GCT		homeobox B8							61.0	65.0	63.0					17																	46690585		2201	4299	6500	SO:0001819	synonymous_variant	3218					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46690585C>A		CCDS11533.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120068	ENSG00000120068		"""Homeoboxes / ANTP class : HOXL subclass"""	5119	protein-coding gene	gene with protein product		142963	"""homeo box B8"""	HOX2, HOX2D		1973146, 1358459	Standard	XM_005257286		Approved		uc002inw.3	P17481	OTTHUMG00000159904	ENST00000239144.4:c.711G>T	17.37:g.46690585C>A						HOXB7_uc002inv.2_5'Flank	p.A237A	NM_024016	NP_076921	P17481	HXB8_HUMAN			2	946	-			237					Q9H1I2	Silent	SNP	ENST00000239144.4	37	c.711G>T	CCDS11533.1																																																																																				0.706	HOXB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358092.3			60	86	1	0	2.22609e-26	0.00361	3.82215e-26	60	86				
OR4D2	124538	broad.mit.edu	37	17	56247058	56247058	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:56247058C>A	ENST00000545221.1	+	1	42	c.42C>A	c.(40-42)ttC>ttA	p.F14L		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F14L(2)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						ACTTTGTCTTCCTGGGGCTCT	0.458																																							uc010wnp.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(40-42)TTC>TTA		olfactory receptor, family 4, subfamily D,							114.0	106.0	109.0					17																	56247058		2203	4300	6503	SO:0001583	missense	124538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56247058C>A		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.42C>A	17.37:g.56247058C>A	ENSP00000441354:p.Phe14Leu						p.F14L	NM_001004707	NP_001004707	P58180	OR4D2_HUMAN			1	42	+			14			Extracellular (Potential).		Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	37	c.42C>A	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.579028	0.00879	.	.	ENSG00000255713	ENST00000545221	T	0.00606	6.26	5.4	1.06	0.20224	.	0.117306	0.38492	N	0.001675	T	0.00210	0.0006	N	0.00801	-1.175	0.26875	N	0.967678	B	0.13594	0.008	B	0.17979	0.02	T	0.42849	-0.9427	10	0.02654	T	1	-39.5262	4.9445	0.13982	0.0:0.5341:0.1442:0.3217	.	14	P58180	OR4D2_HUMAN	L	14	ENSP00000441354:F14L	ENSP00000441354:F14L	F	+	3	2	OR4D2	53602057	0.000000	0.05858	0.996000	0.52242	0.058000	0.15608	-0.031000	0.12287	0.063000	0.16370	-0.908000	0.02827	TTC		0.458	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			22	154	1	0	1.87028e-06	0.001882	2.17271e-06	22	154				
DDX42	11325	broad.mit.edu	37	17	61886919	61886919	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:61886919G>T	ENST00000578681.1	+	12	1753		c.e12-1		DDX42_ENST00000359353.5_Splice_Site|DDX42_ENST00000457800.2_Splice_Site|DDX42_ENST00000389924.2_Splice_Site|DDX42_ENST00000583590.1_Splice_Site	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.?(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TGATCTTATAGGGTCGACTGA	0.378																																							uc002jbu.2		NA																	2	Unknown(2)		lung(2)	ovary(2)|skin(2)|large_intestine(1)	5						c.e12-1		DEAD box polypeptide 42 protein							156.0	138.0	144.0					17																	61886919		2203	4300	6503	SO:0001630	splice_region_variant	11325				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr17:61886919G>T	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.1153-1G>T	17.37:g.61886919G>T						DDX42_uc002jbv.2_Splice_Site_p.G385_splice|DDX42_uc002jbw.1_Splice_Site_p.G121_splice|DDX42_uc002jbx.2_Splice_Site_p.G121_splice|DDX42_uc002jby.2_5'Flank	p.G385_splice	NM_007372	NP_031398	Q86XP3	DDX42_HUMAN			12	1410	+								A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Splice_Site	SNP	ENST00000578681.1	37	c.1153_splice	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157248	0.78114	.	.	ENSG00000198231	ENST00000389924;ENST00000457800;ENST00000359353	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4189	0.90582	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DDX42	59240651	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	9.813000	0.99286	2.681000	0.91329	0.563000	0.77884	.		0.378	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372	Intron	11	86	1	0	3.86212e-05	0.008291	4.29474e-05	11	86				
WIPI1	55062	broad.mit.edu	37	17	66417950	66417950	+	Silent	SNP	G	G	A	rs146678987		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:66417950G>A	ENST00000262139.5	-	13	1304	c.1305C>T	c.(1303-1305)tgC>tgT	p.C435C	WIPI1_ENST00000546360.1_Silent_p.C353C|MIR635_ENST00000384830.1_RNA|ARSG_ENST00000448504.2_3'UTR|RP11-120M18.2_ENST00000592030.1_RNA|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	435					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						GATTTCCACGGCACAAGATTA	0.468																																							uc010dey.2		NA																	0					0						c.(1303-1305)TGC>TGT		WD repeat domain, phosphoinositide interacting							201.0	168.0	179.0					17																	66417950		2203	4300	6503	SO:0001819	synonymous_variant	55062				macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr17:66417950G>A		CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"""WD repeat domain containing"""	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.1305C>T	17.37:g.66417950G>A						WIPI1_uc002jhd.3_RNA|WIPI1_uc010wqo.1_Silent_p.C353C|WIPI1_uc002jhe.3_RNA	p.C435C	NM_017983	NP_060453	Q5MNZ9	WIPI1_HUMAN			13	1396	-			435					Q8IXM5|Q9NWF8	Silent	SNP	ENST00000262139.5	37	c.1305C>T	CCDS11677.1																																																																																				0.468	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983		5	184	0	0	0	0.000602	0	5	184				
C1QTNF1	114897	broad.mit.edu	37	17	77044101	77044101	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:77044101C>A	ENST00000339142.2	+	5	1332	c.777C>A	c.(775-777)atC>atA	p.I259I	C1QTNF1_ENST00000581774.1_Silent_p.I259I|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000580474.1_Silent_p.I259I|C1QTNF1_ENST00000578229.1_Silent_p.I177I|C1QTNF1_ENST00000579760.1_Silent_p.I259I|C1QTNF1_ENST00000392445.2_Silent_p.I259I|C1QTNF1_ENST00000311661.4_Silent_p.I177I|C1QTNF1_ENST00000354124.3_Silent_p.I269I|C1QTNF1_ENST00000583904.1_Silent_p.I259I|C1QTNF1_ENST00000580454.1_Silent_p.I259I	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	259	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)	p.I177I(2)|p.I259I(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			AGAACGCCATCTTCAGCGAGG	0.622																																							uc002jwp.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(1)	1						c.(775-777)ATC>ATA		C1q and tumor necrosis factor related protein 1							77.0	61.0	67.0					17																	77044101		2203	4300	6503	SO:0001819	synonymous_variant	114897					collagen		g.chr17:77044101C>A	AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"""G protein coupled receptor interacting protein"""	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.777C>A	17.37:g.77044101C>A						C1QTNF1_uc002jwq.2_Silent_p.I177I|C1QTNF1_uc002jwr.3_Silent_p.I269I|C1QTNF1_uc002jws.2_Silent_p.I259I|C1QTNF1_uc002jwt.2_Silent_p.I357I	p.I259I	NM_030968	NP_112230	Q9BXJ1	C1QT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)		4	1117	+			259			C1q.		Q6ZMH6|Q96NF2|Q9GZR4	Silent	SNP	ENST00000339142.2	37	c.777C>A	CCDS11761.1																																																																																				0.622	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437388.2	NM_030968		34	51	1	0	9.65963e-10	0.003271	1.2498e-09	34	51				
PDE6G	5148	broad.mit.edu	37	17	79614970	79614970	+	IGR	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:79614970C>T	ENST00000331056.5	-	0	1023				PDE6G_ENST00000574777.1_5'Flank|TSPAN10_ENST00000328585.4_RNA|TSPAN10_ENST00000572675.1_RNA	NM_002602.3	NP_002593.1	P18545	CNRG_HUMAN	phosphodiesterase 6G, cGMP-specific, rod, gamma						activation of MAPK activity (GO:0000187)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|enzyme inhibitor activity (GO:0004857)			lung(2)|urinary_tract(1)	3	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		Sildenafil(DB00203)|Vardenafil(DB00862)	AGGCCTGCAGCCTTCCCGCCT	0.652																																					GBM(189;38 2147 16440 40945 46567)		uc010die.2		NA																	0				ovary(1)	1						c.(712-714)AGC>AGT		tetraspanin 10							15.0	17.0	16.0					17																	79614970		1967	4148	6115	SO:0001628	intergenic_variant	83882					integral to membrane		g.chr17:79614970C>T		CCDS11783.1	17q21.1	2014-01-28				ENSG00000185527	3.1.4.17	"""Phosphodiesterases"""	8789	protein-coding gene	gene with protein product		180073		PDEG		2155175	Standard	NM_002602		Approved	RP57	uc002kay.3	P18545			17.37:g.79614970C>T						TSPAN10_uc010did.1_RNA	p.S238S	NM_031945	NP_114151	Q9H1Z9	TSN10_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		4	804	+	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		238					Q3KP63|Q7Z3U8	Silent	SNP	ENST00000331056.5	37	c.714C>T	CCDS11783.1																																																																																				0.652	PDE6G-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440314.1			3	18	0	0	0	0.000602	0	3	18				
TBCD	6904	broad.mit.edu	37	17	80726316	80726316	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:80726316G>T	ENST00000355528.4	+	5	586	c.456G>T	c.(454-456)atG>atT	p.M152I	TBCD_ENST00000539345.2_Missense_Mutation_p.M152I|TBCD_ENST00000397466.2_5'UTR	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	152					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)	p.M152I(2)				Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CCCGCTACATGCTTTTGCTCT	0.498																																							uc002kfz.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(454-456)ATG>ATT		beta-tubulin cofactor D							244.0	256.0	252.0					17																	80726316		1968	4141	6109	SO:0001583	missense	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80726316G>T	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.456G>T	17.37:g.80726316G>T	ENSP00000347719:p.Met152Ile					TBCD_uc002kfx.1_Missense_Mutation_p.M135I|TBCD_uc002kfy.1_Missense_Mutation_p.M152I	p.M152I	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		5	586	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	152					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	ENST00000355528.4	37	c.456G>T	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	G	9.742	1.165180	0.21538	.	.	ENSG00000141556	ENST00000355528;ENST00000269368;ENST00000536182	T	0.67345	-0.26	5.35	4.37	0.52481	Armadillo-type fold (1);	.	.	.	.	T	0.45316	0.1336	N	0.11870	0.19	0.80722	D	1	B;B;B	0.30870	0.298;0.126;0.006	B;B;B	0.25140	0.036;0.058;0.01	T	0.34950	-0.9808	8	.	.	.	.	13.3576	0.60638	0.0:0.0:0.8415:0.1585	.	152;152;152	Q9BTW9;Q9BTW9-4;F5H8C7	TBCD_HUMAN;.;.	I	152;135;152	ENSP00000347719:M152I	.	M	+	3	0	TBCD	78319605	1.000000	0.71417	0.992000	0.48379	0.858000	0.48976	3.105000	0.50314	1.245000	0.43885	0.655000	0.94253	ATG		0.498	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		184	212	1	0	4.5953e-65	0.00361	9.39712e-65	184	212				
ANKRD30B	374860	broad.mit.edu	37	18	14851670	14851670	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:14851670G>C	ENST00000358984.4	+	36	3550	c.3370G>C	c.(3370-3372)Gct>Cct	p.A1124P		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1124								p.A1124P(1)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGAAAAGAATGCTGAACTTCA	0.373																																							uc010dlo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(3370-3372)GCT>CCT		ankyrin repeat domain 30B							23.0	23.0	23.0					18																	14851670		692	1590	2282	SO:0001583	missense	374860							g.chr18:14851670G>C	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3370G>C	18.37:g.14851670G>C	ENSP00000351875:p.Ala1124Pro					ANKRD30B_uc010xal.1_Missense_Mutation_p.A266P	p.A1124P	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN			36	3550	+			1209			Potential.		B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.3370G>C	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.456531	0.26161	.	.	ENSG00000180777	ENST00000358984;ENST00000320584;ENST00000277669	T	0.15952	2.38	1.39	1.39	0.22231	.	.	.	.	.	T	0.21962	0.0529	M	0.65975	2.015	0.80722	D	1	P;D	0.58268	0.898;0.982	B;P	0.47102	0.181;0.537	T	0.09773	-1.0659	9	0.56958	D	0.05	.	8.7313	0.34501	0.0:0.0:1.0:0.0	.	1209;1124	Q9BXX2;F8WAG3	AN30B_HUMAN;.	P	1124;518;544	ENSP00000351875:A1124P	ENSP00000277669:A544P	A	+	1	0	ANKRD30B	14841670	1.000000	0.71417	0.278000	0.24718	0.403000	0.30841	5.742000	0.68646	1.076000	0.40961	0.173000	0.16961	GCT		0.373	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		3	47	0	0	0	0.004672	0	3	47				
ASXL3	80816	broad.mit.edu	37	18	31319419	31319419	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:31319419C>A	ENST00000269197.5	+	11	2051	c.2051C>A	c.(2050-2052)tCc>tAc	p.S684Y		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	684	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)	p.S391Y(2)|p.S684Y(2)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCTCCAATATCCACTTCACCT	0.363																																							uc010dmg.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)|pancreas(1)	3						c.(2050-2052)TCC>TAC		additional sex combs like 3							132.0	124.0	126.0					18																	31319419		1900	4123	6023	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31319419C>A	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.2051C>A	18.37:g.31319419C>A	ENSP00000269197:p.Ser684Tyr					ASXL3_uc002kxq.2_Missense_Mutation_p.S391Y	p.S684Y	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			11	2106	+			684			Ser-rich.		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.2051C>A	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751794	0.69533	.	.	ENSG00000141431	ENST00000269197	T	0.19669	2.13	5.91	5.91	0.95273	.	0.071143	0.64402	D	0.000013	T	0.39600	0.1084	L	0.59436	1.845	0.41851	D	0.990174	D	0.57257	0.979	P	0.54401	0.751	T	0.08700	-1.0709	10	0.87932	D	0	.	20.2956	0.98549	0.0:1.0:0.0:0.0	.	684	Q9C0F0	ASXL3_HUMAN	Y	684	ENSP00000269197:S684Y	ENSP00000269197:S684Y	S	+	2	0	ASXL3	29573417	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	3.708000	0.54845	2.805000	0.96524	0.460000	0.39030	TCC		0.363	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			56	101	1	0	2.31418e-15	0.00361	3.43354e-15	56	101				
MOCOS	55034	broad.mit.edu	37	18	33793329	33793329	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:33793329G>T	ENST00000261326.5	+	7	1240	c.1219G>T	c.(1219-1221)Gtg>Ttg	p.V407L		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase									p.V407L(2)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AAATCCGCAGGTGGACAAAAT	0.463																																							uc002kzq.3		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1219-1221)GTG>TTG		molybdenum cofactor sulfurase	Pyridoxal Phosphate(DB00114)						74.0	65.0	68.0					18																	33793329		2203	4300	6503	SO:0001630	splice_region_variant	55034				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	g.chr18:33793329G>T	AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.1219-1G>T	18.37:g.33793329G>T							p.V407L	NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN			7	1242	+			407						Missense_Mutation	SNP	ENST00000261326.5	37	c.1219G>T	CCDS11919.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120895	0.56613	.	.	ENSG00000075643	ENST00000261326	T	0.27402	1.67	5.56	3.73	0.42828	Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.059315	0.64402	N	0.000002	T	0.53594	0.1806	M	0.88570	2.965	0.44067	D	0.996817	D	0.61697	0.99	P	0.62491	0.903	T	0.58278	-0.7664	9	.	.	.	-11.7035	7.5145	0.27593	0.0864:0.0:0.7509:0.1627	.	407	Q96EN8	MOCOS_HUMAN	L	407	ENSP00000261326:V407L	.	V	+	1	0	MOCOS	32047327	1.000000	0.71417	1.000000	0.80357	0.150000	0.21749	7.313000	0.78978	1.331000	0.45412	-0.324000	0.08512	GTG		0.463	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1		Missense_Mutation	10	51	1	0	9.70103e-10	0.008291	1.25219e-09	10	51				
SETBP1	26040	broad.mit.edu	37	18	42531706	42531706	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:42531706G>T	ENST00000282030.5	+	4	2697	c.2401G>T	c.(2401-2403)Gag>Tag	p.E801*		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	801						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E801*(2)|p.E747*(2)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CAATTTTTCAGAGTTGAAAAC	0.498									Schinzel-Giedion syndrome																														uc010dni.2		NA																	4	Substitution - Nonsense(4)		lung(4)	upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(2401-2403)GAG>TAG		SET binding protein 1 isoform a							61.0	63.0	62.0					18																	42531706		2203	4300	6503	SO:0001587	stop_gained	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42531706G>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2401G>T	18.37:g.42531706G>T	ENSP00000282030:p.Glu801*						p.E801*	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	2697	+			801					A6H8W5|Q6P6C3|Q9UEF3	Nonsense_Mutation	SNP	ENST00000282030.5	37	c.2401G>T	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	41	8.939480	0.99010	.	.	ENSG00000152217	ENST00000282030	.	.	.	6.17	6.17	0.99709	.	0.062793	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	801	.	ENSP00000282030:E801X	E	+	1	0	SETBP1	40785704	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.835000	0.99442	2.941000	0.99782	0.655000	0.94253	GAG		0.498	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		52	57	1	0	2.01872e-29	0.00361	3.59029e-29	52	57				
SLC14A2	8170	broad.mit.edu	37	18	43249375	43249375	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:43249375G>C	ENST00000255226.6	+	16	2957	c.2141G>C	c.(2140-2142)gGc>gCc	p.G714A	SLC14A2_ENST00000589658.1_Missense_Mutation_p.G191A|SLC14A2_ENST00000586448.1_Missense_Mutation_p.G714A|RP11-116O18.3_ENST00000589510.1_RNA	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	714					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)	p.G714A(2)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCAGCCACGGGCCACTACAAC	0.557																																							uc010dnj.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(2140-2142)GGC>GCC		solute carrier family 14 (urea transporter),							194.0	173.0	180.0					18																	43249375		2203	4300	6503	SO:0001583	missense	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43249375G>C	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.2141G>C	18.37:g.43249375G>C	ENSP00000255226:p.Gly714Ala					SLC14A2_uc002lbe.2_Missense_Mutation_p.G714A	p.G714A	NM_007163	NP_009094	Q15849	UT2_HUMAN			17	2462	+			714			Helical; (Potential).		A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	c.2141G>C	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456454	0.84317	.	.	ENSG00000132874	ENST00000255226	T	0.48522	0.81	5.76	5.76	0.90799	.	0.000000	0.56097	D	0.000029	T	0.76716	0.4026	M	0.90922	3.16	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.79750	-0.1672	10	0.51188	T	0.08	-27.6009	19.9857	0.97347	0.0:0.0:1.0:0.0	.	714	Q15849	UT2_HUMAN	A	714	ENSP00000255226:G714A	ENSP00000255226:G714A	G	+	2	0	SLC14A2	41503373	1.000000	0.71417	0.997000	0.53966	0.470000	0.32858	9.102000	0.94226	2.706000	0.92434	0.655000	0.94253	GGC		0.557	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			39	221	0	0	0	0.005524	0	39	221				
DYM	54808	broad.mit.edu	37	18	46858254	46858254	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:46858254C>A	ENST00000269445.6	-	8	1200	c.743G>T	c.(742-744)gGa>gTa	p.G248V	DYM_ENST00000442713.2_Intron|DYM_ENST00000578396.1_Missense_Mutation_p.G93V	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	248					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)	p.G248V(2)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						TGATGCAAGTCCATAAAGCAG	0.398																																							uc002ldi.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(742-744)GGA>GTA		dymeclin							98.0	105.0	102.0					18																	46858254		2203	4300	6503	SO:0001583	missense	54808					Golgi apparatus		g.chr18:46858254C>A	AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.743G>T	18.37:g.46858254C>A	ENSP00000269445:p.Gly248Val					DYM_uc010xdf.1_Intron|DYM_uc002ldj.3_Missense_Mutation_p.G70V	p.G248V	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN			8	1108	-			248					A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Missense_Mutation	SNP	ENST00000269445.6	37	c.743G>T	CCDS11937.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625816	0.46840	.	.	ENSG00000141627	ENST00000269445	D	0.84660	-1.88	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.92727	0.7688	M	0.81802	2.56	0.80722	D	1	D;D	0.64830	0.994;0.993	D;D	0.69142	0.962;0.919	D	0.93273	0.6653	10	0.87932	D	0	-20.3117	19.4511	0.94867	0.0:1.0:0.0:0.0	.	70;248	Q9NXS9;Q7RTS9	.;DYM_HUMAN	V	248	ENSP00000269445:G248V	ENSP00000269445:G248V	G	-	2	0	DYM	45112252	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.089000	0.76909	2.599000	0.87857	0.591000	0.81541	GGA		0.398	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3	NM_017653		22	124	1	0	2.98393e-07	0.00278	3.57287e-07	22	124				
WDR7	23335	broad.mit.edu	37	18	54694337	54694337	+	Missense_Mutation	SNP	G	G	T	rs200098182		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:54694337G>T	ENST00000254442.3	+	28	4583	c.4372G>T	c.(4372-4374)Ggc>Tgc	p.G1458C	WDR7_ENST00000357574.3_Missense_Mutation_p.G1425C|WDR7-UT1_ENST00000592032.1_RNA|WDR7_ENST00000589935.1_Missense_Mutation_p.G35C	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1458					hematopoietic progenitor cell differentiation (GO:0002244)			p.G1458C(2)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CGCGTCCCCCGGCTCCCACAA	0.617																																							uc002lgk.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(4372-4374)GGC>TGC		rabconnectin-3 beta isoform 1							44.0	44.0	44.0					18																	54694337		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54694337G>T	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.4372G>T	18.37:g.54694337G>T	ENSP00000254442:p.Gly1458Cys					WDR7_uc002lgl.1_Missense_Mutation_p.G1425C	p.G1458C	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	28	4583	+			1458					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.4372G>T	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858743	0.91433	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.63744	-0.06;-0.06	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.71913	0.3396	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73626	-0.3923	10	0.62326	D	0.03	.	19.4133	0.94685	0.0:0.0:1.0:0.0	.	1425;1458	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	C	1458;1425;783;1425	ENSP00000254442:G1458C;ENSP00000350187:G1425C	ENSP00000254442:G1458C	G	+	1	0	WDR7	52845335	1.000000	0.71417	0.990000	0.47175	0.759000	0.43091	9.744000	0.98853	2.700000	0.92200	0.561000	0.74099	GGC		0.617	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			17	90	1	0	3.57192e-18	0.006122	5.5722e-18	17	90				
ATP8B1	5205	broad.mit.edu	37	18	55359150	55359150	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:55359150G>A	ENST00000283684.4	-	11	1108	c.1109C>T	c.(1108-1110)tCt>tTt	p.S370F	RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.S370F|RP11-35G9.3_ENST00000599199.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	370					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.S370F(2)		breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GAGGTACCAAGAGGAATTGCC	0.448																																							uc002lgw.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10						c.(1108-1110)TCT>TTT		ATPase, class I, type 8B, member 1							134.0	114.0	120.0					18																	55359150		2203	4300	6503	SO:0001583	missense	5205	Byler_disease			ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55359150G>A	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.1109C>T	18.37:g.55359150G>A	ENSP00000283684:p.Ser370Phe					uc002lgv.1_Intron	p.S370F	NM_005603	NP_005594	O43520	AT8B1_HUMAN			11	1109	-		Colorectal(73;0.229)	370			Extracellular (Potential).		Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	c.1109C>T	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359997	0.41801	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	D;D	0.89875	-2.58;-2.58	5.82	5.82	0.92795	ATPase, P-type, ATPase-associated domain (1);	0.220373	0.48286	D	0.000181	D	0.89511	0.6736	L	0.31065	0.9	0.58432	D	0.999991	D	0.67145	0.996	D	0.65573	0.936	D	0.83528	0.0089	10	0.05525	T	0.97	.	19.6904	0.95998	0.0:0.0:1.0:0.0	.	370	O43520	AT8B1_HUMAN	F	370	ENSP00000283684:S370F;ENSP00000445359:S370F	ENSP00000283684:S370F	S	-	2	0	ATP8B1	53510148	1.000000	0.71417	0.977000	0.42913	0.984000	0.73092	5.670000	0.68088	2.767000	0.95098	0.655000	0.94253	TCT		0.448	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		10	36	0	0	0	0.006214	0	10	36				
ALPK2	115701	broad.mit.edu	37	18	56202436	56202436	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:56202436C>A	ENST00000361673.3	-	5	5196	c.4983G>T	c.(4981-4983)gaG>gaT	p.E1661D	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1661						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E1022D(2)|p.E1661D(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTTCTCTAACTCACGTTCTC	0.498																																							uc002lhj.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(4981-4983)GAG>GAT		heart alpha-kinase							81.0	85.0	84.0					18																	56202436		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56202436C>A	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.4983G>T	18.37:g.56202436C>A	ENSP00000354991:p.Glu1661Asp					ALPK2_uc002lhk.1_Missense_Mutation_p.E992D	p.E1661D	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			5	5197	-			1661					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.4983G>T	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634888	0.29068	.	.	ENSG00000198796	ENST00000361673	T	0.46819	0.86	5.47	-4.42	0.03579	.	.	.	.	.	T	0.30198	0.0757	L	0.43152	1.355	0.09310	N	1	P;B	0.40476	0.718;0.421	B;B	0.38500	0.275;0.107	T	0.16453	-1.0402	9	0.35671	T	0.21	-6.2594	1.7148	0.02899	0.1964:0.3175:0.3382:0.1479	.	1656;1661	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	D	1661	ENSP00000354991:E1661D	ENSP00000354991:E1661D	E	-	3	2	ALPK2	54353416	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-3.316000	0.00515	-0.775000	0.04584	0.655000	0.94253	GAG		0.498	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		16	143	1	0	2.23348e-06	0.004007	2.58913e-06	16	143				
CDH20	28316	broad.mit.edu	37	18	59217422	59217422	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:59217422C>A	ENST00000262717.4	+	11	2258	c.1860C>A	c.(1858-1860)ggC>ggA	p.G620G	CDH20_ENST00000538374.1_Silent_p.G620G|CDH20_ENST00000536675.2_Silent_p.G620G			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	620					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G620G(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TGAGCCGGGGCGCCCTCATTG	0.582																																							uc010dps.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(1)|pancreas(1)	5						c.(1858-1860)GGC>GGA		cadherin 20, type 2 preproprotein							76.0	60.0	66.0					18																	59217422		2203	4300	6503	SO:0001819	synonymous_variant	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59217422C>A	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1860C>A	18.37:g.59217422C>A						CDH20_uc002lif.2_Silent_p.G614G	p.G620G	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN			10	1872	+		Colorectal(73;0.186)	620			Helical; (Potential).		Q495S3	Silent	SNP	ENST00000262717.4	37	c.1860C>A	CCDS11977.1																																																																																				0.582	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		8	91	1	0	1.06961e-07	0.00308	1.30651e-07	8	91				
TNFRSF11A	8792	broad.mit.edu	37	18	60015426	60015426	+	Missense_Mutation	SNP	G	G	A	rs527791848		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:60015426G>A	ENST00000586569.1	+	2	139	c.101G>A	c.(100-102)tGt>tAt	p.C34Y	TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.C34Y	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	34					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)	p.C34Y(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				GCTCCTCCATGTACCAGTGAG	0.483																																							uc002lin.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(2)|lung(1)	3						c.(100-102)TGT>TAT		tumor necrosis factor receptor superfamily,							143.0	121.0	129.0					18																	60015426		2203	4300	6503	SO:0001583	missense	8792	Paget_Disease_of_Bone			adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	g.chr18:60015426G>A	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11908	protein-coding gene	gene with protein product		603499	"""tumor necrosis factor receptor superfamily, member 11a, activator of NFKB"", ""Paget disease of bone 2"", ""loss of heterozygosity, 18, chromosomal region 1"""	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.101G>A	18.37:g.60015426G>A	ENSP00000465500:p.Cys34Tyr					TNFRSF11A_uc010dpv.2_Missense_Mutation_p.C34Y	p.C34Y	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN			2	139	+		Colorectal(73;0.188)	34			TNFR-Cys 1.|Extracellular (Potential).		I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Missense_Mutation	SNP	ENST00000586569.1	37	c.101G>A	CCDS11980.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.051337	0.55218	.	.	ENSG00000141655	ENST00000382790;ENST00000269485	T	0.65732	-0.17	5.43	5.43	0.79202	TNFR/CD27/30/40/95 cysteine-rich region (3);	1.207700	0.05789	U	0.610042	T	0.81828	0.4905	M	0.75447	2.3	0.37292	D	0.908311	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.71724	-0.4506	9	.	.	.	-12.0965	16.1688	0.81788	0.0:0.0:1.0:0.0	.	56;34	Q59EP9;Q9Y6Q6	.;TNR11_HUMAN	Y	56;34	ENSP00000269485:C34Y	.	C	+	2	0	TNFRSF11A	58166406	0.999000	0.42202	0.065000	0.19835	0.006000	0.05464	5.559000	0.67326	2.546000	0.85860	0.561000	0.74099	TGT		0.483	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2			44	67	0	0	0	0.011902	0	44	67				
CDH7	1005	broad.mit.edu	37	18	63527052	63527052	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:63527052G>T	ENST00000397968.2	+	10	2029	c.1603G>T	c.(1603-1605)Gat>Tat	p.D535Y	CDH7_ENST00000536984.2_Missense_Mutation_p.D535Y|CDH7_ENST00000323011.3_Missense_Mutation_p.D535Y	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	535	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D535Y(4)|p.L533_D535del(1)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTCATTGAAAGATAACAAAGG	0.368																																							uc002ljz.2		NA																	5	Substitution - Missense(4)|Deletion - In frame(1)	p.L533_D535del(1)	lung(4)|ovary(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(1603-1605)GAT>TAT		cadherin 7, type 2 preproprotein							81.0	69.0	73.0					18																	63527052		2203	4299	6502	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63527052G>T	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1603G>T	18.37:g.63527052G>T	ENSP00000381058:p.Asp535Tyr					CDH7_uc002lka.2_Missense_Mutation_p.D535Y|CDH7_uc002lkb.2_Missense_Mutation_p.D535Y	p.D535Y	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			10	1928	+		Esophageal squamous(42;0.129)	535			Extracellular (Potential).|Cadherin 5.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.1603G>T	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706209	0.89018	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.51574	0.7;0.7;0.7	5.71	5.71	0.89125	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.80914	0.4715	H	0.96633	3.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.86878	0.2040	10	0.87932	D	0	.	19.8352	0.96655	0.0:0.0:1.0:0.0	.	535;535	F5H5X9;Q9ULB5	.;CADH7_HUMAN	Y	535	ENSP00000319166:D535Y;ENSP00000443030:D535Y;ENSP00000381058:D535Y	ENSP00000319166:D535Y	D	+	1	0	CDH7	61678032	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.589000	0.98235	2.698000	0.92095	0.585000	0.79938	GAT		0.368	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		14	51	1	0	9.31168e-06	0.001855	1.06141e-05	14	51				
NCLN	56926	broad.mit.edu	37	19	3204605	3204605	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:3204605C>T	ENST00000246117.4	+	9	1495	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F	NCLN_ENST00000590671.1_Missense_Mutation_p.S281F	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	355					regulation of signal transduction (GO:0009966)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.S355F(1)		kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		GTACGGTTCTCCATGGTGCAC	0.687																																							uc002lxi.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1063-1065)TCC>TTC		nicalin precursor							49.0	49.0	49.0					19																	3204605		2203	4299	6502	SO:0001583	missense	56926				proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding	g.chr19:3204605C>T	BC025926	CCDS32869.1	19p13.3	2010-08-13	2010-08-13			ENSG00000125912			26923	protein-coding gene	gene with protein product	"""nicastrin-like protein"""	609156	"""nicalin homolog (zebrafish)"""			11230166	Standard	NM_020170		Approved	NICALIN, NET59	uc002lxi.3	Q969V3		ENST00000246117.4:c.1064C>T	19.37:g.3204605C>T	ENSP00000246117:p.Ser355Phe					NCLN_uc002lxh.1_RNA|NCLN_uc002lxj.1_RNA|NCLN_uc002lxk.2_5'UTR	p.S355F	NM_020170	NP_064555	Q969V3	NCLN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1218	+		Hepatocellular(1079;0.137)	355			Lumenal (Potential).		D6W613|O75252|Q6FI60|Q6ZMB7|Q8TAT7|Q96H48|Q96IS7|Q9BQH9|Q9BTX4|Q9NPP2	Missense_Mutation	SNP	ENST00000246117.4	37	c.1064C>T	CCDS32869.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858002	0.91433	.	.	ENSG00000125912	ENST00000246117	T	0.73152	-0.72	4.45	4.45	0.53987	Peptidase M28 (1);	0.055146	0.85682	D	0.000000	T	0.80297	0.4597	M	0.66939	2.045	0.80722	D	1	P	0.49783	0.928	P	0.58780	0.845	T	0.83013	-0.0171	10	0.66056	D	0.02	-11.92	15.6869	0.77418	0.0:1.0:0.0:0.0	.	355	Q969V3	NCLN_HUMAN	F	355	ENSP00000246117:S355F	ENSP00000246117:S355F	S	+	2	0	NCLN	3155605	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.241000	0.78201	2.005000	0.58758	0.555000	0.69702	TCC		0.687	NCLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452545.1	NM_020170		10	62	0	0	0	0.001368	0	10	62				
NFIC	4782	broad.mit.edu	37	19	3452610	3452610	+	Silent	SNP	G	G	T	rs368456734		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:3452610G>T	ENST00000443272.2	+	8	1266	c.1215G>T	c.(1213-1215)ccG>ccT	p.P405P	NFIC_ENST00000341919.3_Silent_p.P405P|NFIC_ENST00000586919.1_Silent_p.P372P|NFIC_ENST00000589123.1_Silent_p.P396P|NFIC_ENST00000346156.5_Silent_p.P372P|NFIC_ENST00000395111.3_Silent_p.P396P|NFIC_ENST00000590282.1_Silent_p.P405P	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	405					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P396P(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CCCAGGACCCGCTCAAAGATC	0.652																																							uc010xhi.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1213-1215)CCG>CCT		nuclear factor I/C isoform 2							144.0	127.0	133.0					19																	3452610		2203	4300	6503	SO:0001819	synonymous_variant	4782				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3452610G>T	X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.1215G>T	19.37:g.3452610G>T						NFIC_uc002lxo.2_Silent_p.P396P|NFIC_uc010xhh.1_Silent_p.P396P|NFIC_uc002lxp.2_Silent_p.P405P|NFIC_uc010xhj.1_Silent_p.P405P	p.P405P	NM_205843	NP_995315	P08651	NFIC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)	8	1277	+		Hepatocellular(1079;0.137)	405					A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Silent	SNP	ENST00000443272.2	37	c.1215G>T	CCDS59330.1																																																																																				0.652	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	NM_005597		34	206	1	0	1.30091e-30	0.006999	2.35198e-30	34	206				
ANKRD24	170961	broad.mit.edu	37	19	4219712	4219712	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:4219712G>T	ENST00000600132.1	+	19	3404	c.3128G>T	c.(3127-3129)cGg>cTg	p.R1043L	ANKRD24_ENST00000262970.5_Missense_Mutation_p.R1133L|ANKRD24_ENST00000318934.4_Missense_Mutation_p.R1043L	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1043								p.R1133L(2)|p.R608L(2)|p.R1043L(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GCCCAGAGCCGGGCCCAGGAG	0.657																																							uc010dtt.1		NA																	6	Substitution - Missense(6)		lung(6)		0						c.(3127-3129)CGG>CTG		ankyrin repeat domain 24							32.0	40.0	37.0					19																	4219712		2004	4164	6168	SO:0001583	missense	170961							g.chr19:4219712G>T	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.3128G>T	19.37:g.4219712G>T	ENSP00000471252:p.Arg1043Leu						p.R1043L	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	19	3404	+			1043			Potential.		O75268|O95781	Missense_Mutation	SNP	ENST00000600132.1	37	c.3128G>T	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	g	16.92	3.254131	0.59212	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.37752	1.19;1.18	3.79	3.79	0.43588	.	.	.	.	.	T	0.35770	0.0943	N	0.19112	0.55	0.25039	N	0.99122	D	0.59357	0.985	P	0.54629	0.757	T	0.11084	-1.0602	9	0.37606	T	0.19	.	11.8657	0.52493	0.0:0.0:1.0:0.0	.	1043	Q8TF21	ANR24_HUMAN	L	1043;1133	ENSP00000321731:R1043L;ENSP00000262970:R1133L	ENSP00000262970:R1133L	R	+	2	0	ANKRD24	4170712	0.768000	0.28519	0.980000	0.43619	0.938000	0.57974	1.134000	0.31442	2.080000	0.62538	0.313000	0.20887	CGG		0.657	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		31	50	1	0	3.69857e-22	0.008361	6.01017e-22	31	50				
FBN3	84467	broad.mit.edu	37	19	8183790	8183790	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:8183790C>G	ENST00000600128.1	-	26	3742	c.3328G>C	c.(3328-3330)Gcc>Ccc	p.A1110P	FBN3_ENST00000270509.2_Missense_Mutation_p.A1110P|FBN3_ENST00000601739.1_Missense_Mutation_p.A1110P			Q75N90	FBN3_HUMAN	fibrillin 3	1110	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.A1110P(2)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCCTCACAGGCAGTGCCCTTG	0.587																																							uc002mjf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(3328-3330)GCC>CCC		fibrillin 3 precursor							170.0	126.0	141.0					19																	8183790		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8183790C>G		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3328G>C	19.37:g.8183790C>G	ENSP00000470498:p.Ala1110Pro						p.A1110P	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			25	3349	-			1110			EGF-like 14; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.3328G>C	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090069	0.36855	.	.	ENSG00000142449	ENST00000270509	D	0.92299	-3.01	4.18	4.18	0.49190	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.304561	0.30528	U	0.009440	D	0.91236	0.7238	L	0.38692	1.165	0.40818	D	0.983489	D	0.58970	0.984	P	0.57679	0.825	D	0.90000	0.4114	10	0.34782	T	0.22	.	11.0558	0.47918	0.0:0.8984:0.0:0.1016	.	1110	Q75N90	FBN3_HUMAN	P	1110	ENSP00000270509:A1110P	ENSP00000270509:A1110P	A	-	1	0	FBN3	8089790	0.664000	0.27457	0.998000	0.56505	0.097000	0.18754	1.275000	0.33144	2.033000	0.60031	0.313000	0.20887	GCC		0.587	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		16	112	0	0	0	0.006122	0	16	112				
ZNF414	84330	broad.mit.edu	37	19	8578116	8578116	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:8578116G>A	ENST00000255616.8	-	2	214	c.113C>T	c.(112-114)tCc>tTc	p.S38F	ZNF414_ENST00000393927.4_Missense_Mutation_p.S38F	NM_032370.2	NP_115746.2	Q96IQ9	ZN414_HUMAN	zinc finger protein 414	38					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(2)	2						CATGGAGGAGGAAGGGGCTGC	0.682																																							uc002mkf.2		NA																	0					0						c.(112-114)TCC>TTC		zinc finger protein 414 isoform 2							14.0	16.0	15.0					19																	8578116		2200	4300	6500	SO:0001583	missense	84330				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:8578116G>A	AK074191	CCDS12205.1, CCDS54211.1	19p13.2	2008-02-05				ENSG00000133250		"""Zinc fingers, C2H2-type"""	20630	protein-coding gene	gene with protein product							Standard	NM_032370		Approved	MGC15716, Zfp414	uc002mke.4	Q96IQ9		ENST00000255616.8:c.113C>T	19.37:g.8578116G>A	ENSP00000255616:p.Ser38Phe					ZNF414_uc002mke.3_Missense_Mutation_p.S38F|ZNF414_uc010dwf.2_Missense_Mutation_p.S27F	p.S38F	NM_032370	NP_115746	Q96IQ9	ZN414_HUMAN			2	231	-			38					A8MY94	Missense_Mutation	SNP	ENST00000255616.8	37	c.113C>T	CCDS12205.1	.	.	.	.	.	.	.	.	.	.	G	3.867	-0.028728	0.07589	.	.	ENSG00000133250	ENST00000393927;ENST00000255616	T;T	0.24538	1.85;1.85	3.32	1.02	0.19986	.	1.199130	0.06326	N	0.705365	T	0.17704	0.0425	N	0.19112	0.55	0.09310	N	1	P;P	0.47677	0.514;0.899	B;P	0.44990	0.264;0.466	T	0.14172	-1.0482	10	0.35671	T	0.21	-11.301	3.2221	0.06719	0.1477:0.0:0.5929:0.2594	.	38;38	Q96IQ9;A8MY94	ZN414_HUMAN;.	F	38	ENSP00000377504:S38F;ENSP00000255616:S38F	ENSP00000255616:S38F	S	-	2	0	ZNF414	8484116	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.250000	0.18235	0.331000	0.23511	0.561000	0.74099	TCC		0.682	ZNF414-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460199.2	NM_032370		3	19	0	0	0	0.004672	0	3	19				
MUC16	94025	broad.mit.edu	37	19	9069492	9069492	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:9069492C>A	ENST00000397910.4	-	3	18157	c.17954G>T	c.(17953-17955)aGt>aTt	p.S5985I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5987	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S5985I(4)|p.S1618I(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTACTTGCACTTGGTAAGGA	0.478																																							uc002mkp.2		NA																	6	Substitution - Missense(6)		lung(6)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(17953-17955)AGT>ATT		mucin 16							152.0	146.0	148.0					19																	9069492		1945	4144	6089	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9069492C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17954G>T	19.37:g.9069492C>A	ENSP00000381008:p.Ser5985Ile						p.S5985I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	18158	-			5987			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.17954G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	0.521	-0.862278	0.02610	.	.	ENSG00000181143	ENST00000397910	T	0.22336	1.96	0.9	-1.8	0.07907	.	.	.	.	.	T	0.05640	0.0148	N	0.01352	-0.895	.	.	.	B	0.30664	0.289	B	0.20577	0.03	T	0.26710	-1.0095	8	0.87932	D	0	.	4.8219	0.13394	0.0:0.5797:0.0:0.4203	.	5985	B5ME49	.	I	5985	ENSP00000381008:S5985I	ENSP00000381008:S5985I	S	-	2	0	MUC16	8930492	0.000000	0.05858	0.000000	0.03702	0.139000	0.21198	-2.513000	0.00957	-1.014000	0.03379	-1.477000	0.00996	AGT		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		26	176	1	0	1.38267e-23	0.005443	2.29464e-23	26	176				
MUC16	94025	broad.mit.edu	37	19	9089844	9089844	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:9089844C>A	ENST00000397910.4	-	1	2174	c.1971G>T	c.(1969-1971)aaG>aaT	p.K657N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	657	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.K657N(4)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGCAGCCGTCTTGCTCACTG	0.532																																							uc002mkp.2		NA																	4	Substitution - Missense(4)		lung(4)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(1969-1971)AAG>AAT		mucin 16							129.0	130.0	129.0					19																	9089844		2095	4228	6323	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089844C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1971G>T	19.37:g.9089844C>A	ENSP00000381008:p.Lys657Asn						p.K657N	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	2175	-			657			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.1971G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	2.860	-0.236406	0.05944	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	1.56	-0.921	0.10472	.	.	.	.	.	T	0.01353	0.0044	N	0.08118	0	.	.	.	B	0.31968	0.349	B	0.20577	0.03	T	0.45760	-0.9239	8	0.87932	D	0	.	2.8332	0.05506	0.0:0.4933:0.3:0.2066	.	657	B5ME49	.	N	657	ENSP00000381008:K657N	ENSP00000381008:K657N	K	-	3	2	MUC16	8950844	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-1.303000	0.02743	-0.165000	0.10908	0.205000	0.17691	AAG		0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		17	179	1	0	3.01185e-09	0.003954	3.81547e-09	17	179				
OLFM2	93145	broad.mit.edu	37	19	9967991	9967991	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:9967991C>T	ENST00000264833.4	-	4	713	c.528G>A	c.(526-528)caG>caA	p.Q176Q	OLFM2_ENST00000590841.1_Silent_p.Q98Q	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	176					protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)		p.Q176Q(2)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TCACCCGTTGCTGCAGGTCCT	0.647																																							uc002mmp.2		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|skin(1)	2						c.(526-528)CAG>CAA		olfactomedin 2 precursor							89.0	75.0	80.0					19																	9967991		2203	4300	6503	SO:0001819	synonymous_variant	93145					extracellular region		g.chr19:9967991C>T	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.528G>A	19.37:g.9967991C>T						OLFM2_uc002mmo.2_Silent_p.Q98Q	p.Q176Q	NM_058164	NP_477512	O95897	NOE2_HUMAN			4	556	-			176			Potential.		Q6IMJ3|Q96FC2	Silent	SNP	ENST00000264833.4	37	c.528G>A	CCDS12221.1																																																																																				0.647	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			37	100	0	0	0	0.006999	0	37	100				
OLFM2	93145	broad.mit.edu	37	19	9968420	9968420	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:9968420C>T	ENST00000264833.4	-	3	516	c.331G>A	c.(331-333)Gat>Aat	p.D111N	OLFM2_ENST00000590841.1_Missense_Mutation_p.D33N	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	111					protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)		p.D111N(3)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						AGGGACCCATCAGCTGCCCGG	0.577																																							uc002mmp.2		NA																	3	Substitution - Missense(3)		lung(2)|cervix(1)	large_intestine(1)|skin(1)	2						c.(331-333)GAT>AAT		olfactomedin 2 precursor							41.0	45.0	44.0					19																	9968420		2203	4300	6503	SO:0001583	missense	93145					extracellular region		g.chr19:9968420C>T	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.331G>A	19.37:g.9968420C>T	ENSP00000264833:p.Asp111Asn					OLFM2_uc002mmo.2_Missense_Mutation_p.D33N	p.D111N	NM_058164	NP_477512	O95897	NOE2_HUMAN			3	359	-			111					Q6IMJ3|Q96FC2	Missense_Mutation	SNP	ENST00000264833.4	37	c.331G>A	CCDS12221.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332722	0.41297	.	.	ENSG00000105088	ENST00000264833	T	0.42513	0.97	3.92	3.92	0.45320	.	0.203919	0.42053	D	0.000777	T	0.23965	0.0580	N	0.08118	0	0.34418	D	0.697125	B	0.30179	0.271	B	0.33121	0.158	T	0.32161	-0.9917	9	.	.	.	.	13.4794	0.61326	0.0:1.0:0.0:0.0	.	111	O95897	NOE2_HUMAN	N	111	ENSP00000264833:D111N	.	D	-	1	0	OLFM2	9829420	0.004000	0.15560	0.986000	0.45419	0.695000	0.40330	0.919000	0.28692	2.025000	0.59659	0.313000	0.20887	GAT		0.577	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			35	61	0	0	0	0.003755	0	35	61				
ISYNA1	51477	broad.mit.edu	37	19	18546722	18546722	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:18546722T>C	ENST00000338128.8	-	8	1202	c.985A>G	c.(985-987)Atc>Gtc	p.I329V	ISYNA1_ENST00000545187.1_Missense_Mutation_p.I179V|ISYNA1_ENST00000457269.4_Missense_Mutation_p.I275V|ISYNA1_ENST00000317018.6_Missense_Mutation_p.I127V|ISYNA1_ENST00000578963.1_Missense_Mutation_p.I201V	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	329					inositol biosynthetic process (GO:0006021)|inositol phosphate metabolic process (GO:0043647)|phospholipid biosynthetic process (GO:0008654)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-3-phosphate synthase activity (GO:0004512)	p.I329V(2)		breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						TAACTCACGATGGACATGGTC	0.627																																							uc002njd.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(985-987)ATC>GTC		inositol-3-phosphate synthase 1							143.0	150.0	148.0					19																	18546722		2203	4300	6503	SO:0001583	missense	51477				inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity	g.chr19:18546722T>C		CCDS12379.1, CCDS54234.1, CCDS62603.1	19p13.11	2014-09-04			ENSG00000105655	ENSG00000105655	5.5.1.4		29821	protein-coding gene	gene with protein product	"""myo-inositol 1-phosphate synthase"""	611670				15024000, 12941308	Standard	NM_016368		Approved	Ino1, INOS, IPS	uc002njd.2	Q9NPH2	OTTHUMG00000179027	ENST00000338128.8:c.985A>G	19.37:g.18546722T>C	ENSP00000337746:p.Ile329Val					ISYNA1_uc002nja.1_Missense_Mutation_p.I201V|ISYNA1_uc002njb.1_Missense_Mutation_p.I247V|ISYNA1_uc002njc.1_Missense_Mutation_p.I179V|ISYNA1_uc010xqh.1_Missense_Mutation_p.I127V|ISYNA1_uc002nje.1_Missense_Mutation_p.I275V|ISYNA1_uc002njf.1_Missense_Mutation_p.I179V	p.I329V	NM_016368	NP_057452	Q9NPH2	INO1_HUMAN			8	1035	-			329					B3KRT1|G5E9U0|Q6NXT5|Q7Z525|Q9BT65|Q9H2Y2|Q9NSU0|Q9NVW7	Missense_Mutation	SNP	ENST00000338128.8	37	c.985A>G	CCDS12379.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.291660	0.40594	.	.	ENSG00000105655	ENST00000338128;ENST00000457269;ENST00000545187;ENST00000317018	.	.	.	4.58	4.58	0.56647	Myo-inositol-1-phosphate synthase, GAPDH-like (1);	0.000000	0.85682	D	0.000000	T	0.79621	0.4477	M	0.85197	2.74	0.54753	D	0.999981	D;D;D;D	0.71674	0.998;0.957;0.989;0.997	D;P;P;D	0.87578	0.998;0.836;0.898;0.996	T	0.82084	-0.0632	9	0.54805	T	0.06	-34.7604	12.179	0.54202	0.0:0.0:0.0:1.0	.	127;275;329;179	B7Z3K3;G5E9U0;Q9NPH2;G3V1R9	.;.;INO1_HUMAN;.	V	329;275;179;127	.	ENSP00000315147:I127V	I	-	1	0	ISYNA1	18407722	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.183000	0.58317	1.835000	0.53391	0.459000	0.35465	ATC		0.627	ISYNA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444469.2	NM_016368		73	161	0	0	0	0.00361	0	73	161				
GATAD2A	54815	broad.mit.edu	37	19	19609385	19609385	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:19609385G>A	ENST00000360315.3	+	8	1370	c.1058G>A	c.(1057-1059)cGc>cAc	p.R353H	GATAD2A_ENST00000537887.1_5'UTR|GATAD2A_ENST00000429563.2_Missense_Mutation_p.R180H|GATAD2A_ENST00000404158.1_Missense_Mutation_p.R353H|GATAD2A_ENST00000252577.5_Missense_Mutation_p.R353H|GATAD2A_ENST00000358713.3_Missense_Mutation_p.R353H	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	353	CR2; histone tail-binding.				anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						CTGGCGCTGCGCAAACAGCTG	0.642																																							uc010xqt.1		NA																	0					0						c.(1057-1059)CGC>CAC		GATA zinc finger domain containing 2A							36.0	38.0	38.0					19																	19609385		2202	4300	6502	SO:0001583	missense	54815				DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:19609385G>A	AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"""GATA zinc finger domain containing"""	29989	protein-coding gene	gene with protein product	"""p66 alpha"""	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.1058G>A	19.37:g.19609385G>A	ENSP00000353463:p.Arg353His					GATAD2A_uc010xqu.1_5'UTR|GATAD2A_uc010xqv.1_Missense_Mutation_p.R372H|GATAD2A_uc010xqw.1_Missense_Mutation_p.R180H	p.R353H	NM_017660	NP_060130	Q86YP4	P66A_HUMAN			8	1370	+			353					B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Missense_Mutation	SNP	ENST00000360315.3	37	c.1058G>A	CCDS12402.2	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775829	0.90195	.	.	ENSG00000167491	ENST00000360315;ENST00000252577;ENST00000404158;ENST00000358713;ENST00000429563	T;T;T;T	0.67698	0.32;0.15;0.32;-0.28	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.83064	0.5173	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.998	T	0.83332	-0.0012	9	.	.	.	-16.243	18.3542	0.90351	0.0:0.0:1.0:0.0	.	180;372;353	B4DKZ7;B5MC40;Q86YP4	.;.;P66A_HUMAN	H	353;353;372;353;180	ENSP00000353463:R353H;ENSP00000252577:R353H;ENSP00000351552:R353H;ENSP00000388416:R180H	.	R	+	2	0	GATAD2A	19470385	1.000000	0.71417	0.998000	0.56505	0.325000	0.28411	9.841000	0.99482	2.691000	0.91804	0.650000	0.86243	CGC		0.642	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	NM_017660		3	34	0	0	0	0.000602	0	3	34				
PBX4	80714	broad.mit.edu	37	19	19681554	19681554	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:19681554G>A	ENST00000251203.9	-	3	568	c.282C>T	c.(280-282)tgC>tgT	p.C94C		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	94					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|XY body (GO:0001741)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C94C(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						TCTCGGGCCTGCACACGCCCT	0.572																																							uc002nmy.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(280-282)TGC>TGT		pre-B-cell leukemia homeobox 4							68.0	63.0	65.0					19																	19681554		2203	4300	6503	SO:0001819	synonymous_variant	80714						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:19681554G>A	AJ300182	CCDS12406.1	19p13.11	2014-09-11	2007-01-30		ENSG00000105717			"""Homeoboxes / TALE class"""	13403	protein-coding gene	gene with protein product		608127	"""pre-B-cell leukemia transcription factor 4"""				Standard	NM_025245		Approved		uc002nmy.3	Q9BYU1	OTTHUMG00000172310	ENST00000251203.9:c.282C>T	19.37:g.19681554G>A						PBX4_uc010xqz.1_RNA|PBX4_uc010xra.1_5'UTR	p.C94C	NM_025245	NP_079521	Q9BYU1	PBX4_HUMAN			3	283	-			94					A5D8Y0|B3KUK9	Silent	SNP	ENST00000251203.9	37	c.282C>T	CCDS12406.1																																																																																				0.572	PBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417784.6			13	68	0	0	0	0.00245	0	13	68				
ZNF208	7757	broad.mit.edu	37	19	22155180	22155180	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:22155180C>T	ENST00000397126.4	-	4	2804	c.2656G>A	c.(2656-2658)Gag>Aag	p.E886K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	886					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E786K(4)|p.E886K(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAGGGTTTCTCTCCAGTATGA	0.378																																							uc002nqp.2		NA																	6	Substitution - Missense(6)		lung(6)	ovary(5)|skin(2)	7						c.(2356-2358)GAG>AAG		zinc finger protein 208							42.0	44.0	43.0					19																	22155180		2062	4217	6279	SO:0001583	missense	7757							g.chr19:22155180C>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2656G>A	19.37:g.22155180C>T	ENSP00000380315:p.Glu886Lys					ZNF208_uc002nqo.1_Intron	p.E786K	NM_007153	NP_009084					5	2505	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2356G>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731158	0.30684	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.24350	1.86	2.58	1.51	0.23008	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44265	0.1285	.	.	.	0.32235	N	0.573458	D	0.71674	0.998	D	0.85130	0.997	T	0.50701	-0.8797	8	0.62326	D	0.03	.	6.2689	0.20943	0.0:0.8403:0.0:0.1597	.	786	O43345	ZN208_HUMAN	K	886;786	ENSP00000380315:E886K	ENSP00000380315:E886K	E	-	1	0	ZNF208	21947020	0.480000	0.25933	0.188000	0.23233	0.030000	0.12068	1.398000	0.34554	0.114000	0.18032	0.289000	0.19496	GAG		0.378	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		38	66	0	0	0	0.004289	0	38	66				
ZNF99	7652	broad.mit.edu	37	19	22941575	22941575	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:22941575C>G	ENST00000596209.1	-	4	1226	c.1136G>C	c.(1135-1137)aGc>aCc	p.S379T	ZNF99_ENST00000397104.3_Missense_Mutation_p.S288T	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S288T(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGACAAATTGCTAAAAGCTTT	0.373																																							uc010xrh.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(862-864)AGC>ACC		zinc finger protein 99							92.0	97.0	96.0					19																	22941575		2021	4196	6217	SO:0001583	missense	7652							g.chr19:22941575C>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1136G>C	19.37:g.22941575C>G	ENSP00000472969:p.Ser379Thr						p.S288T	NM_001080409	NP_001073878					5	863	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.863G>C	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	0.004	-2.239414	0.00274	.	.	ENSG00000213973	ENST00000397104	T	0.17854	2.25	1.28	-2.55	0.06288	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06462	0.0166	N	0.11201	0.11	0.09310	N	1	B	0.12630	0.006	B	0.14023	0.01	T	0.36187	-0.9758	9	0.15499	T	0.54	.	3.3242	0.07061	0.0:0.3285:0.2147:0.4568	.	288	A8MXY4	ZNF99_HUMAN	T	288	ENSP00000380293:S288T	ENSP00000380293:S288T	S	-	2	0	ZNF99	22733415	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-7.452000	0.00036	-2.057000	0.00897	-0.741000	0.03529	AGC		0.373	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		14	105	0	0	0	0.001855	0	14	105				
CEP89	84902	broad.mit.edu	37	19	33457284	33457284	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:33457284G>A	ENST00000305768.5	-	2	216	c.128C>T	c.(127-129)cCa>cTa	p.P43L	CEP89_ENST00000590597.2_Missense_Mutation_p.P43L|CEP89_ENST00000591863.1_5'Flank	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	43					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.P43L(2)		breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CTCTGGAGATGGGTTGGGGCT	0.572																																							uc002nty.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(127-129)CCA>CTA		coiled-coil domain containing 123							72.0	60.0	64.0					19																	33457284		2203	4300	6503	SO:0001583	missense	84902					centrosome|spindle pole		g.chr19:33457284G>A	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.128C>T	19.37:g.33457284G>A	ENSP00000306105:p.Pro43Leu					CCDC123_uc010edg.2_RNA|CCDC123_uc002ntz.1_Missense_Mutation_p.P43L|CCDC123_uc002nua.2_Missense_Mutation_p.P43L|CCDC123_uc002nub.1_5'UTR	p.P43L	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN			2	217	-	Esophageal squamous(110;0.137)		43					B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	c.128C>T	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418760	0.83559	.	.	ENSG00000121289	ENST00000305768	T	0.34275	1.37	5.35	4.31	0.51392	.	0.124842	0.56097	D	0.000032	T	0.59445	0.2194	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.973;1.0	T	0.64271	-0.6447	10	0.72032	D	0.01	-6.9832	13.5831	0.61915	0.0758:0.0:0.9242:0.0	.	43;43	Q96ST8-3;Q96ST8	.;CEP89_HUMAN	L	43	ENSP00000306105:P43L	ENSP00000306105:P43L	P	-	2	0	CEP89	38149124	1.000000	0.71417	0.962000	0.40283	0.956000	0.61745	5.365000	0.66116	1.238000	0.43771	0.655000	0.94253	CCA		0.572	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		8	42	0	0	0	0.00308	0	8	42				
COX6B1	1340	broad.mit.edu	37	19	36145541	36145541	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:36145541C>T	ENST00000592141.1	+	3	440	c.175C>T	c.(175-177)Cgt>Tgt	p.R59C	COX6B1_ENST00000392201.1_Missense_Mutation_p.R59C|COX6B1_ENST00000246554.3_Missense_Mutation_p.R59C			P14854	CX6B1_HUMAN	cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)	59					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)	p.R76C(2)|p.R59C(2)		lung(6)|prostate(1)|stomach(1)	8	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATGGTACCAGCGTGTGTACCA	0.582																																							uc002oav.2		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(175-177)CGT>TGT		cytochrome c oxidase subunit VIb polypeptide 1							185.0	138.0	154.0					19																	36145541		2203	4300	6503	SO:0001583	missense	1340				respiratory electron transport chain	mitochondrial inner membrane|mitochondrial intermembrane space	cytochrome-c oxidase activity	g.chr19:36145541C>T	BC001015	CCDS12469.1	19q13.1	2011-07-04	2010-01-07	2004-08-12	ENSG00000126267	ENSG00000126267	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2280	protein-coding gene	gene with protein product		124089	"""cytochrome c oxidase subunit Vib"", ""cytochrome c oxidase subunit Vib polypeptide 1 (ubiquitous)"""	COX6B		1650756	Standard	NM_001863		Approved	COXG	uc002oav.3	P14854	OTTHUMG00000048112	ENST00000592141.1:c.175C>T	19.37:g.36145541C>T	ENSP00000466818:p.Arg59Cys						p.R59C	NM_001863	NP_001854	P14854	CX6B1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	337	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		59					B2R5C9|Q6IBL4	Missense_Mutation	SNP	ENST00000592141.1	37	c.175C>T	CCDS12469.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.583722	0.65992	.	.	ENSG00000126267	ENST00000246554;ENST00000392201	D	0.83335	-1.71	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.80008	0.4545	.	.	.	0.80722	D	1	B	0.26975	0.165	B	0.27500	0.08	T	0.77493	-0.2567	9	0.66056	D	0.02	-14.0427	15.8518	0.78937	0.0:1.0:0.0:0.0	.	59	P14854	CX6B1_HUMAN	C	59;76	ENSP00000246554:R59C	ENSP00000246554:R59C	R	+	1	0	COX6B1	40837381	0.560000	0.26570	1.000000	0.80357	0.888000	0.51559	0.987000	0.29603	2.818000	0.97014	0.650000	0.86243	CGT		0.582	COX6B1-004	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459068.3	NM_001863		16	106	0	0	0	0.003163	0	16	106				
NPHS1	4868	broad.mit.edu	37	19	36322556	36322556	+	Missense_Mutation	SNP	C	C	T	rs144203682	byFrequency	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:36322556C>T	ENST00000378910.5	-	24	3274	c.3275G>A	c.(3274-3276)cGt>cAt	p.R1092H	NPHS1_ENST00000353632.6_Intron	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1092					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)	p.R1092H(2)		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)			CTCAGCAAGACGCCTGAGTCT	0.647																																							uc002oby.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(3274-3276)CGT>CAT		nephrin precursor		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	28.0	27.0	28.0		3275	-0.9	0.6	19	dbSNP_134	28	1,8599	1.2+/-3.3	0,1,4299	no	missense	NPHS1	NM_004646.3	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	1092/1242	36322556	2,13004	2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36322556C>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.3275G>A	19.37:g.36322556C>T	ENSP00000368190:p.Arg1092His					NPHS1_uc010eem.1_Intron	p.R1092H	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		24	3275	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		1092			Cytoplasmic (Potential).		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.3275G>A	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	C	8.270	0.813183	0.16537	2.27E-4	1.16E-4	ENSG00000161270	ENST00000378910	T	0.75589	-0.95	5.09	-0.868	0.10652	.	0.418635	0.25540	N	0.029977	T	0.57184	0.2036	L	0.29908	0.895	0.41952	D	0.990662	B	0.09022	0.002	B	0.04013	0.001	T	0.46400	-0.9194	10	0.56958	D	0.05	-2.3577	8.0343	0.30482	0.0:0.5221:0.0:0.4779	.	1092	O60500	NPHN_HUMAN	H	1092	ENSP00000368190:R1092H	ENSP00000368190:R1092H	R	-	2	0	NPHS1	41014396	0.008000	0.16893	0.619000	0.29118	0.115000	0.19883	-1.308000	0.02730	0.031000	0.15407	0.456000	0.33151	CGT		0.647	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			6	22	0	0	0	0.001984	0	6	22				
IFNL3	282617	broad.mit.edu	37	19	39734774	39734774	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:39734774C>G	ENST00000413851.2	-	3	320	c.282G>C	c.(280-282)ttG>ttC	p.L94F	IFNL4_ENST00000606380.1_RNA	NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	94					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)		p.L94F(2)									GCTCAGCCTCCAAAGCCACGG	0.637																																							uc010xut.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(280-282)TTG>TTC		interleukin 28B							38.0	42.0	41.0					19																	39734774		2203	4300	6503	SO:0001583	missense	282617				response to virus	extracellular space	cytokine activity	g.chr19:39734774C>G	AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"""Interferons"""	18365	protein-coding gene	gene with protein product		607402	"""interleukin 28B"", ""interleukin 28B (interferon, lambda 3)"""	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.282G>C	19.37:g.39734774C>G	ENSP00000409000:p.Leu94Phe					IL28B_uc010xuu.1_Missense_Mutation_p.L94F	p.L94F	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		3	286	-	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		94					A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Missense_Mutation	SNP	ENST00000413851.2	37	c.282G>C	CCDS12530.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.146737	0.37923	.	.	ENSG00000197110	ENST00000413851	T	0.43294	0.95	3.21	2.16	0.27623	.	0.134244	0.33419	N	0.004937	T	0.61627	0.2362	M	0.87269	2.87	0.35925	D	0.832075	D	0.89917	1.0	D	0.80764	0.994	T	0.69587	-0.5105	10	0.72032	D	0.01	-6.8975	5.5643	0.17163	0.0:0.8439:0.0:0.1561	.	94	Q8IZI9	IL28B_HUMAN	F	94	ENSP00000409000:L94F	ENSP00000409000:L94F	L	-	3	2	IL28B	44426614	0.538000	0.26394	0.991000	0.47740	0.426000	0.31534	0.106000	0.15354	1.812000	0.52913	0.205000	0.17691	TTG		0.637	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463832.1	NM_172139		16	49	0	0	0	0.003163	0	16	49				
GMFG	9535	broad.mit.edu	37	19	39819649	39819649	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:39819649C>A	ENST00000597595.1	-	6	556	c.348G>T	c.(346-348)gaG>gaT	p.E116D	GMFG_ENST00000601387.1_Missense_Mutation_p.E75D|GMFG_ENST00000600322.1_Missense_Mutation_p.E83D|GMFG_ENST00000253054.8_Missense_Mutation_p.E83D|GMFG_ENST00000602185.1_Missense_Mutation_p.E67D|GMFG_ENST00000594700.1_Intron|GMFG_ENST00000598034.1_Missense_Mutation_p.E116D|GMFG_ENST00000595636.1_3'UTR	NM_004877.2	NP_004868.1	O60234	GMFG_HUMAN	glia maturation factor, gamma	116	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				negative regulation of protein kinase activity (GO:0006469)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)	intracellular (GO:0005622)	enzyme activator activity (GO:0008047)|protein kinase inhibitor activity (GO:0004860)	p.E116D(2)		breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CCTTTGTGAGCTCTGCTGTCT	0.552																																							uc002okz.3		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(346-348)GAG>GAT		glia maturation factor, gamma							185.0	157.0	166.0					19																	39819649		2203	4300	6503	SO:0001583	missense	9535				protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity	g.chr19:39819649C>A	AB001993	CCDS12532.1, CCDS74364.1	19q13.2	2014-08-12			ENSG00000130755	ENSG00000130755			4374	protein-coding gene	gene with protein product		604104				9545571, 9653160, 17127212	Standard	XM_005259440		Approved		uc002okz.4	O60234	OTTHUMG00000182811	ENST00000597595.1:c.348G>T	19.37:g.39819649C>A	ENSP00000472249:p.Glu116Asp					GMFG_uc002okx.3_Missense_Mutation_p.E116D	p.E116D	NM_004877	NP_004868	O60234	GMFG_HUMAN	Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		6	458	-	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		116			ADF-H.		Q6IB37	Missense_Mutation	SNP	ENST00000597595.1	37	c.348G>T	CCDS12532.1	.	.	.	.	.	.	.	.	.	.	C	9.916	1.210812	0.22289	.	.	ENSG00000130755	ENST00000253054	.	.	.	5.44	0.762	0.18454	Actin-binding, cofilin/tropomyosin type (3);	0.064945	0.64402	D	0.000019	T	0.37128	0.0992	L	0.39514	1.22	0.39055	D	0.960403	B;B	0.32396	0.036;0.369	B;B	0.31869	0.029;0.137	T	0.11717	-1.0576	9	0.23891	T	0.37	-37.6214	8.3644	0.32378	0.0:0.5883:0.0:0.4117	.	116;116	O60234;Q6IB37	GMFG_HUMAN;.	D	116	.	ENSP00000253054:E116D	E	-	3	2	GMFG	44511489	0.983000	0.35010	0.995000	0.50966	0.948000	0.59901	0.153000	0.16323	0.251000	0.21505	0.655000	0.94253	GAG		0.552	GMFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463839.1			18	73	1	0	9.7654e-05	0.007413	0.000107498	18	73				
IRGC	56269	broad.mit.edu	37	19	44223909	44223909	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:44223909G>T	ENST00000244314.5	+	2	1398	c.1199G>T	c.(1198-1200)cGc>cTc	p.R400L		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	400						membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)	p.R400L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CAGCGTGTCCGCATCAAGGCC	0.652																																					Colon(189;350 2037 11447 13433 38914)	Colon(189;350 2037 11447 13433 38914)	uc002oxh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1198-1200)CGC>CTC		immunity-related GTPase family, cinema							34.0	31.0	32.0					19																	44223909		2203	4300	6503	SO:0001583	missense	56269					membrane	GTP binding|hydrolase activity, acting on acid anhydrides	g.chr19:44223909G>T	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.1199G>T	19.37:g.44223909G>T	ENSP00000244314:p.Arg400Leu						p.R400L	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN			2	1346	+		Prostate(69;0.0435)	400					Q05BR8	Missense_Mutation	SNP	ENST00000244314.5	37	c.1199G>T	CCDS12629.1	.	.	.	.	.	.	.	.	.	.	G	3.864	-0.029349	0.07589	.	.	ENSG00000124449	ENST00000244314	T	0.20463	2.07	4.77	4.77	0.60923	.	0.000000	0.38381	N	0.001720	T	0.03739	0.0106	N	0.00123	-2.06	0.34277	D	0.681674	B	0.30236	0.274	B	0.31016	0.123	T	0.33343	-0.9872	10	0.02654	T	1	.	10.548	0.45070	0.0:0.0:0.8069:0.1931	.	400	Q6NXR0	IIGP5_HUMAN	L	400	ENSP00000244314:R400L	ENSP00000244314:R400L	R	+	2	0	IRGC	48915749	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.672000	0.61597	2.219000	0.72066	0.650000	0.86243	CGC		0.652	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612		6	22	1	0	0.00198382	0.001984	0.00210732	6	22				
ARHGAP35	2909	broad.mit.edu	37	19	47422455	47422455	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:47422455G>T	ENST00000404338.3	+	1	523	c.523G>T	c.(523-525)Gat>Tat	p.D175Y		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	175					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.D175Y(4)									TAGGAACTTTGATGACCAGCT	0.453																																							uc010ekv.2		NA																	4	Substitution - Missense(4)		lung(4)	central_nervous_system(1)	1						c.(523-525)GAT>TAT		glucocorticoid receptor DNA binding factor 1							115.0	105.0	108.0					19																	47422455		1915	4144	6059	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47422455G>T	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.523G>T	19.37:g.47422455G>T	ENSP00000385720:p.Asp175Tyr						p.D175Y	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	1	523	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	175					A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.523G>T	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266190	0.59540	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.77620	-1.11	5.9	5.9	0.94986	.	0.048832	0.85682	D	0.000000	D	0.87140	0.6103	M	0.67953	2.075	0.80722	D	1	D	0.76494	0.999	D	0.67103	0.949	D	0.87463	0.2409	10	0.87932	D	0	-19.0795	19.0536	0.93054	0.0:0.0:1.0:0.0	.	175	Q9NRY4-2	.	Y	175	ENSP00000385720:D175Y	ENSP00000324820:D175Y	D	+	1	0	ARHGAP35	52114295	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	9.869000	0.99810	2.806000	0.96561	0.655000	0.94253	GAT		0.453	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		10	74	1	0	0.000442599	0.006214	0.000475707	10	74				
TMEM143	55260	broad.mit.edu	37	19	48845850	48845850	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:48845850G>A	ENST00000293261.3	-	6	1228	c.912C>T	c.(910-912)ctC>ctT	p.L304L	TMEM143_ENST00000541566.1_Silent_p.L194L|TMEM143_ENST00000435956.3_Silent_p.L269L|TMEM143_ENST00000436660.2_Silent_p.L239L|TMEM143_ENST00000377431.2_Silent_p.L204L	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	304					hematopoietic progenitor cell differentiation (GO:0002244)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.L304L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		TGGCCACCTTGAGGTCGGTTA	0.672																																							uc002pix.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(910-912)CTC>CTT		transmembrane protein 143							50.0	46.0	47.0					19																	48845850		2203	4299	6502	SO:0001819	synonymous_variant	55260					integral to membrane|mitochondrion		g.chr19:48845850G>A	AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558			25603	protein-coding gene	gene with protein product						12975309	Standard	NM_018273		Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.912C>T	19.37:g.48845850G>A						TMEM143_uc002piw.1_Intron|TMEM143_uc002piy.1_Silent_p.L269L|TMEM143_uc010xzn.1_Silent_p.L239L|TMEM143_uc010elw.1_Silent_p.L204L|TMEM143_uc010xzo.1_Silent_p.L94L	p.L304L	NM_018273	NP_060743	Q96AN5	TM143_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)	6	921	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)	304			Helical; (Potential).		A8K656|Q6UXY4|Q9NV49	Silent	SNP	ENST00000293261.3	37	c.912C>T	CCDS12716.1																																																																																				0.672	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465622.1	NM_018273		5	46	0	0	0	0.000602	0	5	46				
ZNF611	81856	broad.mit.edu	37	19	53208882	53208882	+	Missense_Mutation	SNP	C	C	T	rs199699205	byFrequency	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:53208882C>T	ENST00000319783.1	-	7	1742	c.1426G>A	c.(1426-1428)Gac>Aac	p.D476N	ZNF611_ENST00000540744.1_Missense_Mutation_p.D476N|ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000453741.2_Missense_Mutation_p.D407N|ZNF611_ENST00000595798.1_Missense_Mutation_p.D407N|ZNF611_ENST00000602162.1_Missense_Mutation_p.D407N|ZNF611_ENST00000543227.1_Missense_Mutation_p.D476N	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	476					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D476N(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TCTCCACAGTCAATTCTAGTA	0.378													-|||	2	0.000399361	0.0	0.0	5008	,	,		20589	0.002		0.0	False		,,,				2504	0.0						uc002pzz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1426-1428)GAC>AAC		zinc finger protein 611 isoform a							102.0	104.0	104.0					19																	53208882		2203	4300	6503	SO:0001583	missense	81856				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53208882C>T	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1426G>A	19.37:g.53208882C>T	ENSP00000322427:p.Asp476Asn					ZNF611_uc010eqc.2_Missense_Mutation_p.D406N|ZNF611_uc010ydo.1_Missense_Mutation_p.D406N|ZNF611_uc010ydr.1_Missense_Mutation_p.D407N|ZNF611_uc010ydp.1_Missense_Mutation_p.D476N|ZNF611_uc010ydq.1_Missense_Mutation_p.D476N|ZNF611_uc002qaa.3_Missense_Mutation_p.D406N	p.D476N	NM_030972	NP_112234	Q8N823	ZN611_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)	7	1743	-			476			C2H2-type 9; degenerate.		B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	c.1426G>A	CCDS12855.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	.	10.18	1.278469	0.23307	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	1.24	0.00425	0.14057	Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07818	0.0196	N	0.04508	-0.205	0.20975	N	0.999813	B	0.06786	0.001	B	0.04013	0.001	T	0.32824	-0.9892	9	0.87932	D	0	.	7.9903	0.30237	0.0:0.2591:0.7409:0.0	.	476	Q8N823	ZN611_HUMAN	N	476;476;407;476	ENSP00000437616:D476N;ENSP00000439211:D476N;ENSP00000443505:D407N;ENSP00000322427:D476N	ENSP00000322427:D476N	D	-	1	0	ZNF611	57900694	0.972000	0.33761	0.004000	0.12327	0.004000	0.04260	1.972000	0.40540	-0.169000	0.10834	-1.014000	0.02459	GAC		0.378	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		25	154	0	0	0	0.003954	0	25	154				
ZNF845	91664	broad.mit.edu	37	19	53854476	53854476	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:53854476G>C	ENST00000595091.1	+	5	767	c.548G>C	c.(547-549)aGg>aCg	p.R183T	ZNF845_ENST00000458035.1_Missense_Mutation_p.R183T			Q96IR2	ZN845_HUMAN	zinc finger protein 845	183					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R183T(2)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATTTCTTGTAGGCCTAAAACC	0.373																																							uc010ydv.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(547-549)AGG>ACG		zinc finger protein 845							62.0	45.0	50.0					19																	53854476		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53854476G>C	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.548G>C	19.37:g.53854476G>C	ENSP00000470005:p.Arg183Thr					ZNF845_uc010ydw.1_Missense_Mutation_p.R183T	p.R183T	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN			4	665	+			183						Missense_Mutation	SNP	ENST00000595091.1	37	c.548G>C	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	7.073	0.568656	0.13560	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.06933	3.24	1.2	1.2	0.21068	.	.	.	.	.	T	0.09024	0.0223	L	0.49256	1.55	0.09310	N	1	P	0.41420	0.749	B	0.38264	0.269	T	0.23261	-1.0193	9	0.49607	T	0.09	.	9.958	0.41680	0.0:0.0:1.0:0.0	.	183	Q96IR2	ZN845_HUMAN	T	183	ENSP00000388311:R183T	ENSP00000412086:R183T	R	+	2	0	ZNF845	58546288	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.767000	0.04720	0.960000	0.38005	0.411000	0.27672	AGG		0.373	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		33	73	0	0	0	0.010818	0	33	73				
LILRA1	11024	broad.mit.edu	37	19	55106135	55106135	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:55106135C>T	ENST00000251372.3	+	4	258	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Missense_Mutation_p.L26F|LILRB1_ENST00000448689.1_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	26					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.L26F(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TCCAGGGACCCTCCCCAAGCC	0.587																																							uc002qgh.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(76-78)CTC>TTC		leukocyte immunoglobulin-like receptor,							57.0	61.0	59.0					19																	55106135		2203	4300	6503	SO:0001583	missense	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55106135C>T	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.76C>T	19.37:g.55106135C>T	ENSP00000251372:p.Leu26Phe					LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Missense_Mutation_p.L26F	p.L26F	NM_006863	NP_006854	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	4	258	+			26			Extracellular (Potential).		O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	c.76C>T	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	C	5.790	0.330159	0.10956	.	.	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.00864	5.6;5.6	1.58	0.513	0.17000	Immunoglobulin-like fold (1);	0.304622	0.23900	N	0.043441	T	0.01092	0.0036	L	0.56769	1.78	0.09310	N	0.999991	B;B	0.27910	0.053;0.193	B;B	0.25506	0.025;0.061	T	0.45352	-0.9267	10	0.51188	T	0.08	.	4.1895	0.10414	0.0:0.7798:0.0:0.2202	.	26;26	O75019-2;O75019	.;LIRA1_HUMAN	F	26	ENSP00000251372:L26F;ENSP00000413715:L26F	ENSP00000251372:L26F	L	+	1	0	LILRA1	59797947	0.000000	0.05858	0.556000	0.28293	0.013000	0.08279	-0.114000	0.10757	0.247000	0.21414	-1.038000	0.02383	CTC		0.587	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		33	82	0	0	0	0.003271	0	33	82				
PPP6R1	22870	broad.mit.edu	37	19	55742243	55742243	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:55742243T>A	ENST00000412770.2	-	22	3035	c.2469A>T	c.(2467-2469)agA>agT	p.R823S	PPP6R1_ENST00000587283.1_Missense_Mutation_p.R823S|TMEM86B_ENST00000327042.4_5'Flank	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	823	Pro-rich.				regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)	p.R823S(1)		breast(1)	1						TAGAGGGGTCTCTGGTTGCAC	0.662																																							uc002qjw.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2467-2469)AGA>AGT		SAPS domain family, member 1							24.0	31.0	29.0					19																	55742243		2039	4190	6229	SO:0001583	missense	22870				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding	g.chr19:55742243T>A	AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	29195	protein-coding gene	gene with protein product		610875	"""KIAA1115"", ""SAPS domain family, member 1"""	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.2469A>T	19.37:g.55742243T>A	ENSP00000414202:p.Arg823Ser					TMEM86B_uc002qjt.2_5'Flank|TMEM86B_uc002qju.2_5'Flank|SAPS1_uc002qjv.2_Missense_Mutation_p.R885S	p.R823S	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	22	2711	-		Renal(1328;0.245)	823			Pro-rich.		Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Missense_Mutation	SNP	ENST00000412770.2	37	c.2469A>T	CCDS46186.1	.	.	.	.	.	.	.	.	.	.	T	11.33	1.607550	0.28623	.	.	ENSG00000105063	ENST00000444538;ENST00000412770	T	0.48836	0.8	3.49	3.49	0.39957	.	0.297094	0.25689	N	0.028945	T	0.29126	0.0724	N	0.24115	0.695	0.28749	N	0.901526	P;P	0.46784	0.816;0.884	B;B	0.42916	0.177;0.402	T	0.10428	-1.0630	10	0.08381	T	0.77	-4.4136	8.6577	0.34073	0.0:0.0:0.0:1.0	.	823;185	Q9UPN7;Q96ID3	PP6R1_HUMAN;.	S	338;823	ENSP00000414202:R823S	ENSP00000414202:R823S	R	-	3	2	PPP6R1	60434055	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	2.023000	0.41040	1.834000	0.53371	0.260000	0.18958	AGA		0.662	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452663.1	NM_014931		17	26	0	0	0	0.004007	0	17	26				
COX6B2	125965	broad.mit.edu	37	19	55865866	55865866	+	Missense_Mutation	SNP	C	C	A	rs528839611	byFrequency	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:55865866C>A	ENST00000593184.1	-	2	103	c.24G>T	c.(22-24)gaG>gaT	p.E8D	COX6B2_ENST00000589879.1_5'Flank|COX6B2_ENST00000590900.1_Missense_Mutation_p.E8D|COX6B2_ENST00000589467.1_Missense_Mutation_p.E8D|COX6B2_ENST00000588572.2_Missense_Mutation_p.E8D|CTD-2105E13.6_ENST00000591954.3_3'UTR|COX6B2_ENST00000326529.4_Missense_Mutation_p.E8D			Q6YFQ2	CX6B2_HUMAN	cytochrome c oxidase subunit VIb polypeptide 2 (testis)	8						mitochondrial crista (GO:0030061)	cytochrome-c oxidase activity (GO:0004129)	p.E8D(2)		endometrium(1)|kidney(1)|lung(2)|pancreas(1)	5	Breast(117;0.191)	Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CCTTGGGGGGCTCCTGGGCTT	0.667																																					NSCLC(77;1057 1395 2148 36198 42783)	NSCLC(77;1057 1395 2148 36198 42783)	uc002qkn.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(22-24)GAG>GAT		cytochrome c oxidase subunit VIb,							92.0	99.0	97.0					19																	55865866		1892	4098	5990	SO:0001583	missense	125965					mitochondrial crista|mitochondrial intermembrane space	cytochrome-c oxidase activity	g.chr19:55865866C>A	AK057427	CCDS42630.1	19q13.42	2011-07-04						"""Mitochondrial respiratory chain complex / Complex IV"""	24380	protein-coding gene	gene with protein product	"""cytochrome c oxidase subunit VIb, testes specific"", ""cancer/testis antigen 59"""					12874793	Standard	NM_144613		Approved	COXVIB2, FLJ32865, CT59	uc002qkn.3	Q6YFQ2		ENST00000593184.1:c.24G>T	19.37:g.55865866C>A	ENSP00000467266:p.Glu8Asp					COX6B2_uc002qkm.2_RNA|COX6B2_uc002qko.2_RNA|COX6B2_uc002qkp.1_Missense_Mutation_p.S150I	p.E8D	NM_144613	NP_653214	Q6YFQ2	CX6B2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	2	207	-	Breast(117;0.191)	Renal(1328;0.245)	8					Q7L1R4|Q96DL5	Missense_Mutation	SNP	ENST00000593184.1	37	c.24G>T	CCDS42630.1	.	.	.	.	.	.	.	.	.	.	c	12.54	1.968939	0.34754	.	.	ENSG00000160471	ENST00000326529	D	0.83335	-1.71	4.08	0.34	0.15985	.	.	.	.	.	T	0.69833	0.3155	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.56171	-0.8023	8	0.36615	T	0.2	-3.1929	5.7464	0.18122	0.0:0.5019:0.3866:0.1115	.	8	Q6YFQ2	CX6B2_HUMAN	D	8	ENSP00000320672:E8D	ENSP00000320672:E8D	E	-	3	2	COX6B2	60557678	0.001000	0.12720	0.010000	0.14722	0.105000	0.19272	0.196000	0.17176	0.469000	0.27268	0.561000	0.74099	GAG		0.667	COX6B2-003	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452965.2	NM_144613		24	169	1	0	4.7796e-09	0.004656	5.99923e-09	24	169				
ZNF579	163033	broad.mit.edu	37	19	56090015	56090015	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:56090015C>A	ENST00000325421.4	-	2	1019	c.991G>T	c.(991-993)Gcg>Tcg	p.A331S	CTD-2537I9.5_ENST00000589396.1_lincRNA	NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	331	Gly-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)|poly(A) RNA binding (GO:0044822)	p.A331T(1)|p.A331S(1)		endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		TTGCCCGCCGCGGGCAGCGGG	0.751																																							uc002qlh.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(991-993)GCG>TCG		zinc finger protein 579							9.0	14.0	12.0					19																	56090015		2106	4095	6201	SO:0001583	missense	163033				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56090015C>A	AK092772	CCDS12927.1	19q13.42	2013-09-20			ENSG00000218891	ENSG00000218891		"""Zinc fingers, C2H2-type"""	26646	protein-coding gene	gene with protein product							Standard	NM_152600		Approved	FLJ35453	uc002qlh.3	Q8NAF0	OTTHUMG00000180857	ENST00000325421.4:c.991G>T	19.37:g.56090015C>A	ENSP00000320188:p.Ala331Ser						p.A331S	NM_152600	NP_689813	Q8NAF0	ZN579_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)	2	1044	-			331			Gly-rich.			Missense_Mutation	SNP	ENST00000325421.4	37	c.991G>T	CCDS12927.1	.	.	.	.	.	.	.	.	.	.	C	8.483	0.860208	0.17178	.	.	ENSG00000218891	ENST00000325421	T	0.06449	3.3	3.02	-1.34	0.09143	.	.	.	.	.	T	0.03305	0.0096	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42155	-0.9468	9	0.62326	D	0.03	.	7.4234	0.27085	0.1633:0.279:0.5578:0.0	.	331	Q8NAF0	ZN579_HUMAN	S	331	ENSP00000320188:A331S	ENSP00000320188:A331S	A	-	1	0	ZNF579	60781827	0.000000	0.05858	0.811000	0.32455	0.986000	0.74619	-0.048000	0.11944	0.085000	0.17107	0.561000	0.74099	GCG		0.751	ZNF579-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453348.1	NM_152600		7	15	1	0	1.58986e-06	0.008291	1.85484e-06	7	15				
ZNF667	63934	broad.mit.edu	37	19	56954088	56954088	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:56954088G>T	ENST00000504904.3	-	7	995	c.276C>A	c.(274-276)acC>acA	p.T92T	ZNF667_ENST00000292069.6_Silent_p.T92T|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Silent_p.T220T			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	92					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T92T(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GTAACTTCTTGGTCTCACATT	0.373																																							uc002qnd.2		NA																	2	Substitution - coding silent(2)		lung(2)	pancreas(1)	1						c.(274-276)ACC>ACA		zinc finger protein 667							50.0	53.0	52.0					19																	56954088		2154	4188	6342	SO:0001819	synonymous_variant	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56954088G>T		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.276C>A	19.37:g.56954088G>T						ZNF667_uc010etl.2_5'UTR|ZNF667_uc002qne.2_Silent_p.T92T|ZNF667_uc010etm.2_Silent_p.T35T	p.T92T	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	5	438	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	92					B2RMS6|B9EK36|Q6B093|Q9H807	Silent	SNP	ENST00000504904.3	37	c.276C>A	CCDS12944.1																																																																																				0.373	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		53	87	1	0	5.82388e-19	0.00361	9.13747e-19	53	87				
ZNF135	7694	broad.mit.edu	37	19	58579729	58579730	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:58579729_58579730GG>AA	ENST00000313434.5	+	5	1978_1979	c.1877_1878GG>AA	c.(1876-1878)aGG>aAA	p.R626K	ZNF135_ENST00000439855.2_Missense_Mutation_p.R626K|ZNF135_ENST00000401053.4_Missense_Mutation_p.R650K|ZNF135_ENST00000359978.6_Intron|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000511556.1_Missense_Mutation_p.R638K|ZNF135_ENST00000506786.1_Missense_Mutation_p.R584K	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	626					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R650K(2)|p.R626K(2)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CAGCACCGGAGGATCCACACAG	0.545																																							uc010yhq.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(1912-1914)AGG>AAA		zinc finger protein 135 isoform 2																																				SO:0001583	missense	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58579729_58579730GG>AA	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		Exception_encountered	19.37:g.58579729_58579730delinsAA	ENSP00000321406:p.Arg626Lys					ZNF135_uc002qre.2_Missense_Mutation_p.R626K|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Missense_Mutation_p.R584K|ZNF135_uc002qrg.2_Missense_Mutation_p.R596K|ZNF135_uc010yhr.1_Missense_Mutation_p.R447K	p.R638K	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	2009_2010	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	638					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	DNP	ENST00000313434.5	37	c.1913_1914GG>AA																																																																																					0.545	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		19	87	0	0	0	0.004672	0	19	87				
TPO	7173	broad.mit.edu	37	2	1459915	1459915	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:1459915C>A	ENST00000345913.4	+	7	771	c.680C>A	c.(679-681)tCt>tAt	p.S227Y	TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.S227Y|TPO_ENST00000382198.1_Missense_Mutation_p.S227Y|TPO_ENST00000349624.3_Missense_Mutation_p.S227Y|TPO_ENST00000346956.3_Missense_Mutation_p.S227Y|TPO_ENST00000382201.3_Missense_Mutation_p.S227Y|TPO_ENST00000329066.4_Missense_Mutation_p.S227Y	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	227					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.S227Y(2)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GACCGCTATTCTGACCTCCTG	0.537																																							uc002qww.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(679-681)TCT>TAT		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						126.0	90.0	102.0					2																	1459915		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1459915C>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.680C>A	2.37:g.1459915C>A	ENSP00000318820:p.Ser227Tyr					TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.S227Y|TPO_uc002qwr.2_Missense_Mutation_p.S227Y|TPO_uc002qwx.2_Missense_Mutation_p.S227Y|TPO_uc010yio.1_Missense_Mutation_p.S227Y|TPO_uc010yip.1_Missense_Mutation_p.S227Y	p.S227Y	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	7	771	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	227			Extracellular (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.680C>A	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158307	0.57368	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04	5.04	5.04	0.67666	.	0.051098	0.85682	D	0.000000	D	0.91399	0.7286	M	0.93808	3.46	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.992;0.977;0.992;0.997	D	0.93575	0.6907	10	0.87932	D	0	-18.2931	18.7337	0.91746	0.0:1.0:0.0:0.0	.	227;227;227;227	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	Y	227;227;227;227;227;227;227;156	ENSP00000337263:S227Y;ENSP00000318820:S227Y;ENSP00000263886:S227Y;ENSP00000332044:S227Y;ENSP00000329869:S227Y;ENSP00000371636:S227Y;ENSP00000371633:S227Y;ENSP00000405788:S156Y	ENSP00000329869:S227Y	S	+	2	0	TPO	1438922	1.000000	0.71417	0.402000	0.26371	0.026000	0.11368	5.229000	0.65316	2.485000	0.83878	0.563000	0.77884	TCT		0.537	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		10	71	1	0	3.07112e-06	0.010729	3.5451e-06	10	71				
TPO	7173	broad.mit.edu	37	2	1491645	1491645	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:1491645G>T	ENST00000345913.4	+	10	1741	c.1650G>T	c.(1648-1650)caG>caT	p.Q550H	TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.Q550H|TPO_ENST00000382198.1_Missense_Mutation_p.Q377H|TPO_ENST00000349624.3_Missense_Mutation_p.Q377H|TPO_ENST00000346956.3_Missense_Mutation_p.Q550H|TPO_ENST00000382201.3_Intron|TPO_ENST00000329066.4_Missense_Mutation_p.Q550H	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	550					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.Q550H(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCAAACTGCAGGTGCAGGATC	0.537																																							uc002qww.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(1648-1650)CAG>CAT		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						124.0	101.0	109.0					2																	1491645		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1491645G>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1650G>T	2.37:g.1491645G>T	ENSP00000318820:p.Gln550His					TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Intron|TPO_uc002qwr.2_Missense_Mutation_p.Q550H|TPO_uc002qwx.2_Intron|TPO_uc010yio.1_Missense_Mutation_p.Q377H|TPO_uc010yip.1_Missense_Mutation_p.Q550H|TPO_uc002qwy.1_Intron|TPO_uc002qwz.2_Intron	p.Q550H	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	10	1741	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	550			Extracellular (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.1650G>T	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438954	0.25900	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;-0.71	4.88	0.99	0.19807	.	0.453121	0.24436	N	0.038544	T	0.80639	0.4661	M	0.91459	3.21	0.09310	N	1	D;D;D	0.71674	0.98;0.998;0.984	P;D;D	0.65443	0.893;0.93;0.935	T	0.68398	-0.5419	10	0.39692	T	0.17	-23.6965	1.3727	0.02214	0.313:0.1359:0.4116:0.1396	.	550;377;550	P07202-4;P07202-5;P07202	.;.;PERT_HUMAN	H	550;550;550;377;550;377;479	ENSP00000337263:Q550H;ENSP00000318820:Q550H;ENSP00000263886:Q550H;ENSP00000332044:Q377H;ENSP00000329869:Q550H;ENSP00000371633:Q377H;ENSP00000405788:Q479H	ENSP00000329869:Q550H	Q	+	3	2	TPO	1470652	0.118000	0.22208	0.012000	0.15200	0.864000	0.49448	1.109000	0.31135	-0.106000	0.12110	-0.229000	0.12294	CAG		0.537	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		10	95	1	0	5.16669e-11	0.010729	6.9827e-11	10	95				
RSAD2	91543	broad.mit.edu	37	2	7036027	7036027	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:7036027G>A	ENST00000382040.3	+	6	1176	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E	RSAD2_ENST00000541728.1_Missense_Mutation_p.G240E	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2									p.G347E(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		CTGAAGCGAGGAGGAAAATAC	0.443																																							uc002qyp.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1039-1041)GGA>GAA		radical S-adenosyl methionine domain containing							92.0	87.0	89.0					2																	7036027		2203	4300	6503	SO:0001583	missense	91543				defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	g.chr2:7036027G>A	AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.1040G>A	2.37:g.7036027G>A	ENSP00000371471:p.Gly347Glu						p.G347E	NM_080657	NP_542388	Q8WXG1	RSAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.191)	6	1176	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		347						Missense_Mutation	SNP	ENST00000382040.3	37	c.1040G>A	CCDS1656.1	.	.	.	.	.	.	.	.	.	.	G	32	5.153093	0.94645	.	.	ENSG00000134321	ENST00000382040;ENST00000541728	T	0.44482	0.92	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.71187	0.3310	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.74982	-0.3478	10	0.66056	D	0.02	-33.2666	19.912	0.97027	0.0:0.0:1.0:0.0	.	347	Q8WXG1	RSAD2_HUMAN	E	347;240	ENSP00000371471:G347E	ENSP00000371471:G347E	G	+	2	0	RSAD2	6953478	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	9.302000	0.96175	2.791000	0.96007	0.655000	0.94253	GGA		0.443	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2	NM_080657		14	52	0	0	0	0.001855	0	14	52				
NBAS	51594	broad.mit.edu	37	2	15492159	15492159	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:15492159T>A	ENST00000281513.5	-	35	4161	c.4136A>T	c.(4135-4137)gAa>gTa	p.E1379V	NBAS_ENST00000441750.1_Missense_Mutation_p.E1259V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1379					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.E1379V(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACTGATATTTTCCCCTCCTTC	0.368																																							uc002rcc.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|liver(1)|skin(1)	4						c.(4135-4137)GAA>GTA		neuroblastoma-amplified protein							130.0	118.0	122.0					2																	15492159		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15492159T>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.4136A>T	2.37:g.15492159T>A	ENSP00000281513:p.Glu1379Val					NBAS_uc010exl.1_Missense_Mutation_p.E451V|NBAS_uc002rcd.1_RNA	p.E1379V	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			35	4162	-			1379					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.4136A>T	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.78|17.78	3.472797|3.472797	0.63737|0.63737	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513|ENST00000442506	T;T|.	0.12774|.	2.65;2.84|.	5.68|5.68	3.24|3.24	0.37175|0.37175	.|.	0.200339|.	0.51477|.	D|.	0.000085|.	T|.	0.54319|.	0.1851|.	L|L	0.47716|0.47716	1.5|1.5	0.49130|0.49130	D|D	0.99975|0.99975	D;P|.	0.69078|.	0.997;0.936|.	P;P|.	0.62813|.	0.907;0.552|.	T|.	0.43702|.	-0.9375|.	10|.	0.87932|.	D|.	0|.	.|.	7.5469|7.5469	0.27772|0.27772	0.1408:0.0:0.1476:0.7115|0.1408:0.0:0.1476:0.7115	.|.	1259;1379|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	V|X	1259;1379|427	ENSP00000413201:E1259V;ENSP00000281513:E1379V|.	ENSP00000281513:E1379V|.	E|K	-|-	2|1	0|0	NBAS|NBAS	15409610|15409610	0.241000|0.241000	0.23857|0.23857	0.403000|0.403000	0.26384|0.26384	0.955000|0.955000	0.61496|0.61496	1.693000|1.693000	0.37742|0.37742	0.397000|0.397000	0.25310|0.25310	0.533000|0.533000	0.62120|0.62120	GAA|AAA		0.368	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		7	62	0	0	0	0.001984	0	7	62				
KCNK3	3777	broad.mit.edu	37	2	26950707	26950707	+	Silent	SNP	C	C	T	rs112956865		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:26950707C>T	ENST00000302909.3	+	2	581	c.456C>T	c.(454-456)gcC>gcT	p.A152A		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	152					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)	p.A152A(1)		endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	TGCGGCGCGCCGACGTGTCCA	0.647													c|||	1	0.000199681	0.0008	0.0	5008	,	,		16859	0.0		0.0	False		,,,				2504	0.0				GBM(80;1457 1631 27100 45946)	GBM(80;1457 1631 27100 45946)	uc002rhn.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(454-456)GCC>GCT		potassium channel, subfamily K, member 3				1,4405	2.1+/-5.4	0,1,2202	72.0	66.0	68.0		456	-0.8	1.0	2	dbSNP_132	68	0,8598		0,0,4299	no	coding-synonymous	KCNK3	NM_002246.2		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		152/395	26950707	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	3777				synaptic transmission	integral to plasma membrane		g.chr2:26950707C>T	AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.456C>T	2.37:g.26950707C>T							p.A152A	NM_002246	NP_002237	O14649	KCNK3_HUMAN			2	619	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		152			Cytoplasmic (Potential).		Q53SU2	Silent	SNP	ENST00000302909.3	37	c.456C>T	CCDS1727.1																																																																																				0.647	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	NM_002246		11	99	0	0	0	0.001368	0	11	99				
DPYSL5	56896	broad.mit.edu	37	2	27150120	27150120	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:27150120G>T	ENST00000288699.6	+	4	578		c.e4-1		DPYSL5_ENST00000401478.1_Splice_Site	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5						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)	p.?(2)		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)					TTGTTCTCCAGGTGAAAGCAG	0.577																																							uc002rhu.3		NA																	2	Unknown(2)		lung(2)	ovary(2)	2						c.e4-1		dihydropyrimidinase-like 5							87.0	68.0	74.0					2																	27150120		2203	4300	6503	SO:0001630	splice_region_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.chr2:27150120G>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.421-1G>T	2.37:g.27150120G>T						DPYSL5_uc002rhv.3_Splice_Site_p.V141_splice	p.V141_splice	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN			4	579	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							Q8TCL6|Q9NQC4|Q9NRY9	Splice_Site	SNP	ENST00000288699.6	37	c.421_splice	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117278	0.77323	.	.	ENSG00000157851	ENST00000450961;ENST00000288699;ENST00000401478;ENST00000431402;ENST00000434719	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6203	0.91318	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DPYSL5	27003624	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	9.197000	0.94985	2.779000	0.95612	0.591000	0.81541	.		0.577	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134	Intron	16	13	1	0	6.72482e-11	0.003163	9.06606e-11	16	13				
BRE	9577	broad.mit.edu	37	2	28521252	28521252	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:28521252C>T	ENST00000342045.2	+	12	1123	c.982C>T	c.(982-984)Cag>Tag	p.Q328*	BRE_ENST00000379624.1_Nonsense_Mutation_p.Q328*|BRE_ENST00000361704.2_Nonsense_Mutation_p.Q328*|BRE_ENST00000379632.2_Nonsense_Mutation_p.Q328*|BRE_ENST00000344773.2_Nonsense_Mutation_p.Q328*	NM_199194.2	NP_954664.1			brain and reproductive organ-expressed (TNFRSF1A modulator)									p.Q328*(9)		NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TCTCACATTTCAGTCCGTTTA	0.428																																							uc002rlr.2		NA																	9	Substitution - Nonsense(9)		lung(9)	lung(1)|kidney(1)|skin(1)	3						c.(982-984)CAG>TAG		brain and reproductive organ-expressed (TNFRSF1A							195.0	199.0	197.0					2																	28521252		2203	4300	6503	SO:0001587	stop_gained	9577				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	g.chr2:28521252C>T	AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 4"""	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000342045.2:c.982C>T	2.37:g.28521252C>T	ENSP00000339371:p.Gln328*					BRE_uc002rlp.1_Nonsense_Mutation_p.Q328*|BRE_uc002rlq.2_Nonsense_Mutation_p.Q328*|BRE_uc002rls.2_Nonsense_Mutation_p.Q328*|BRE_uc002rlt.2_Nonsense_Mutation_p.Q328*|BRE_uc002rlu.2_Nonsense_Mutation_p.Q328*|BRE_uc002rlv.2_Nonsense_Mutation_p.Q190*|BRE_uc002rlx.2_RNA	p.Q328*	NM_199194	NP_954664	Q9NXR7	BRE_HUMAN			12	1300	+	Acute lymphoblastic leukemia(172;0.155)		328			UEV-like 2.			Nonsense_Mutation	SNP	ENST00000342045.2	37	c.982C>T	CCDS1763.1	.	.	.	.	.	.	.	.	.	.	C	37	6.183419	0.97357	.	.	ENSG00000158019	ENST00000344773;ENST00000379624;ENST00000342045;ENST00000379632;ENST00000361704;ENST00000379623	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-14.5228	19.6276	0.95684	0.0:1.0:0.0:0.0	.	.	.	.	X	328;328;328;328;328;230	.	ENSP00000339371:Q328X	Q	+	1	0	BRE	28374756	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.794000	0.85869	2.652000	0.90054	0.655000	0.94253	CAG		0.428	BRE-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215114.1			91	228	0	0	0	0.00361	0	91	228				
C2orf71	388939	broad.mit.edu	37	2	29295827	29295827	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:29295827C>A	ENST00000331664.5	-	1	1300	c.1301G>T	c.(1300-1302)tGc>tTc	p.C434F		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	434					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)		p.C434F(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						ACTGGAGAGGCATGGGCTCCT	0.567																																							uc002rmt.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1300-1302)TGC>TTC		hypothetical protein LOC388939							91.0	97.0	95.0					2																	29295827		2008	4162	6170	SO:0001583	missense	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29295827C>A		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1301G>T	2.37:g.29295827C>A	ENSP00000332809:p.Cys434Phe						p.C434F	NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN			1	1301	-			434						Missense_Mutation	SNP	ENST00000331664.5	37	c.1301G>T	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	C	5.249	0.231446	0.09969	.	.	ENSG00000179270	ENST00000331664	T	0.18657	2.2	4.98	-0.525	0.11917	.	1.905330	0.01724	N	0.028468	T	0.14313	0.0346	L	0.36672	1.1	0.09310	N	1	B	0.22480	0.07	B	0.18871	0.023	T	0.12167	-1.0558	10	0.10377	T	0.69	7.069	2.9467	0.05848	0.1045:0.3913:0.2925:0.2116	.	434	A6NGG8	CB071_HUMAN	F	434	ENSP00000332809:C434F	ENSP00000332809:C434F	C	-	2	0	C2orf71	29149331	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.380000	0.07427	0.201000	0.20466	0.561000	0.74099	TGC		0.567	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		61	97	1	0	2.93687e-30	0.00361	5.29219e-30	61	97				
BIRC6	57448	broad.mit.edu	37	2	32667152	32667152	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:32667152T>A	ENST00000421745.2	+	18	4098	c.3964T>A	c.(3964-3966)Tta>Ata	p.L1322I		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1322					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.L1322I(2)|p.L1294I(2)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATGTGCCATGTTACAGTTTTC	0.383																																					Pancreas(94;175 1509 16028 18060 45422)	Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(3964-3966)TTA>ATA		baculoviral IAP repeat-containing 6							58.0	63.0	61.0					2																	32667152		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32667152T>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.3964T>A	2.37:g.32667152T>A	ENSP00000393596:p.Leu1322Ile						p.L1322I	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			18	4098	+	Acute lymphoblastic leukemia(172;0.155)		1322					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.3964T>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	T	11.38	1.621706	0.28889	.	.	ENSG00000115760	ENST00000421745	D	0.83335	-1.71	5.64	3.26	0.37387	.	0.192107	0.33875	N	0.004471	D	0.86222	0.5881	L	0.54965	1.715	0.52099	D	0.99994	P	0.52842	0.956	D	0.65010	0.931	D	0.84225	0.0463	10	0.62326	D	0.03	.	8.3081	0.32055	0.0:0.2148:0.0:0.7852	.	1322	Q9NR09	BIRC6_HUMAN	I	1322	ENSP00000393596:L1322I	ENSP00000393596:L1322I	L	+	1	2	BIRC6	32520656	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.832000	0.55783	0.414000	0.25790	0.519000	0.50382	TTA		0.383	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		15	75	0	0	0	0.004007	0	15	75				
FAM98A	25940	broad.mit.edu	37	2	33810265	33810265	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:33810265G>A	ENST00000238823.8	-	8	1275	c.1135C>T	c.(1135-1137)Cat>Tat	p.H379Y	FAM98A_ENST00000403368.1_3'UTR|FAM98A_ENST00000498340.1_5'Flank|FAM98A_ENST00000441530.2_Missense_Mutation_p.H184Y			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	380	Gly-rich.						poly(A) RNA binding (GO:0044822)	p.H379Y(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CCTCCTTGATGCTTATTTCCT	0.567																																							uc002rpa.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1135-1137)CAT>TAT		hypothetical protein LOC25940							255.0	209.0	225.0					2																	33810265		2203	4300	6503	SO:0001583	missense	25940							g.chr2:33810265G>A		CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.1135C>T	2.37:g.33810265G>A	ENSP00000238823:p.His379Tyr					FAM98A_uc010yne.1_Missense_Mutation_p.H184Y|FAM98A_uc010ynd.1_Missense_Mutation_p.H210Y|FAM98A_uc002roz.1_Missense_Mutation_p.H217Y	p.H379Y	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN			8	1209	-	all_hematologic(175;0.115)		380			Gly-rich.		B2RNA2|Q9Y3Y6	Missense_Mutation	SNP	ENST00000238823.8	37	c.1135C>T	CCDS33179.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.713234	0.30413	.	.	ENSG00000119812	ENST00000238823;ENST00000395190;ENST00000441530	T;D	0.83837	0.97;-1.77	5.56	5.56	0.83823	.	0.471084	0.21477	N	0.073900	T	0.63965	0.2556	N	0.08118	0	0.09310	N	0.999998	B;B;B;B	0.29716	0.165;0.165;0.255;0.165	B;B;B;B	0.25884	0.047;0.047;0.064;0.029	T	0.47711	-0.9096	10	0.02654	T	1	-8.9369	15.0635	0.71973	0.0:0.1415:0.8585:0.0	.	380;210;379;217	Q8NCA5;B4DY25;Q8NCA5-2;B3KTW4	FA98A_HUMAN;.;.;.	Y	379;380;184	ENSP00000238823:H379Y;ENSP00000408716:H184Y	ENSP00000238823:H379Y	H	-	1	0	FAM98A	33663769	0.537000	0.26386	0.991000	0.47740	0.968000	0.65278	2.780000	0.47742	2.617000	0.88574	0.491000	0.48974	CAT		0.567	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325457.2	NM_015475		67	125	0	0	0	0.00361	0	67	125				
FAM98A	25940	broad.mit.edu	37	2	33810355	33810355	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:33810355C>A	ENST00000238823.8	-	8	1185	c.1045G>T	c.(1045-1047)Gga>Tga	p.G349*	FAM98A_ENST00000403368.1_3'UTR|FAM98A_ENST00000498340.1_5'Flank|FAM98A_ENST00000441530.2_Nonsense_Mutation_p.G154*			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	350	Gly-rich.						poly(A) RNA binding (GO:0044822)	p.G349*(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CCTCGTCCTCCGTATGAGGAA	0.597																																							uc002rpa.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(1045-1047)GGA>TGA		hypothetical protein LOC25940							141.0	119.0	126.0					2																	33810355		2203	4300	6503	SO:0001587	stop_gained	25940							g.chr2:33810355C>A		CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.1045G>T	2.37:g.33810355C>A	ENSP00000238823:p.Gly349*					FAM98A_uc010yne.1_Nonsense_Mutation_p.G154*|FAM98A_uc010ynd.1_Nonsense_Mutation_p.G180*|FAM98A_uc002roz.1_Nonsense_Mutation_p.G187*	p.G349*	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN			8	1119	-	all_hematologic(175;0.115)		350			Gly-rich.		B2RNA2|Q9Y3Y6	Nonsense_Mutation	SNP	ENST00000238823.8	37	c.1045G>T	CCDS33179.1	.	.	.	.	.	.	.	.	.	.	C	37	6.360113	0.97502	.	.	ENSG00000119812	ENST00000238823;ENST00000395190;ENST00000441530	.	.	.	5.56	5.56	0.83823	.	0.435252	0.21634	N	0.071431	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-8.8947	19.5324	0.95234	0.0:1.0:0.0:0.0	.	.	.	.	X	349;350;154	.	ENSP00000238823:G349X	G	-	1	0	FAM98A	33663859	.	.	0.992000	0.48379	0.629000	0.37895	.	.	2.617000	0.88574	0.491000	0.48974	GGA		0.597	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325457.2	NM_015475		47	105	1	0	8.48111e-28	0.00361	1.47006e-27	47	105				
SLC8A1	6546	broad.mit.edu	37	2	40655830	40655830	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:40655830T>A	ENST00000403092.1	-	2	1624	c.1591A>T	c.(1591-1593)Att>Ttt	p.I531F	SLC8A1_ENST00000542756.1_Missense_Mutation_p.I531F|SLC8A1_ENST00000402441.1_Missense_Mutation_p.I531F|SLC8A1_ENST00000405901.3_Missense_Mutation_p.I531F|SLC8A1_ENST00000542024.1_Missense_Mutation_p.I531F|SLC8A1_ENST00000405269.1_Missense_Mutation_p.I531F|SLC8A1_ENST00000408028.2_Missense_Mutation_p.I531F|SLC8A1_ENST00000406785.2_Missense_Mutation_p.I531F|SLC8A1_ENST00000406391.2_Missense_Mutation_p.I531F|SLC8A1_ENST00000332839.4_Missense_Mutation_p.I531F			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	531	Calx-beta 2.				blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.I531F(2)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCATCAAAAATAGTTACAGTG	0.438																																							uc002rrx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1591-1593)ATT>TTT		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						112.0	112.0	112.0					2																	40655830		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40655830T>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1591A>T	2.37:g.40655830T>A	ENSP00000384763:p.Ile531Phe					SLC8A1_uc002rry.2_Missense_Mutation_p.I531F|SLC8A1_uc002rrz.2_Missense_Mutation_p.I531F|SLC8A1_uc002rsa.2_Missense_Mutation_p.I531F|SLC8A1_uc002rsd.3_Missense_Mutation_p.I531F|SLC8A1_uc002rsb.1_Missense_Mutation_p.I531F|SLC8A1_uc010fan.1_Missense_Mutation_p.I531F|SLC8A1_uc002rsc.1_Missense_Mutation_p.I531F	p.I531F	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	1615	-			531			Calx-beta 2.|Cytoplasmic (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.1591A>T	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754924	0.69648	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	6.17	6.17	0.99709	Na-Ca exchanger/integrin-beta4 (2);	0.041770	0.85682	D	0.000000	D	0.86037	0.5837	H	0.96748	3.875	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.991;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.961;0.996;0.998;1.0	D	0.90369	0.4379	10	0.87932	D	0	.	14.7743	0.69713	0.0:0.0:0.0:1.0	.	531;531;531;531;531	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	F	531	ENSP00000383886:I531F;ENSP00000440727:I531F;ENSP00000384763:I531F;ENSP00000385678:I531F;ENSP00000385188:I531F;ENSP00000385535:I531F;ENSP00000332931:I531F;ENSP00000384908:I531F;ENSP00000385811:I531F;ENSP00000443515:I531F	ENSP00000332931:I531F	I	-	1	0	SLC8A1	40509334	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.881000	0.87252	2.371000	0.80710	0.533000	0.62120	ATT		0.438	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		43	97	0	0	0	0.010771	0	43	97				
NRXN1	9378	broad.mit.edu	37	2	50765580	50765580	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:50765580G>T	ENST00000406316.2	-	10	3430	c.1954C>A	c.(1954-1956)Caa>Aaa	p.Q652K	NRXN1_ENST00000406859.3_Missense_Mutation_p.Q652K|NRXN1_ENST00000404971.1_Missense_Mutation_p.Q692K|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.Q644K|NRXN1_ENST00000401669.2_Missense_Mutation_p.Q652K|NRXN1_ENST00000402717.3_Missense_Mutation_p.Q644K	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	652	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.Q693K(2)|p.Q652K(2)|p.Q692K(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCTTTGCTTTGGCCATCGATG	0.507																																							uc010fbq.2		NA																	6	Substitution - Missense(6)		lung(6)	ovary(2)	2						c.(2074-2076)CAA>AAA		neurexin 1 isoform alpha2 precursor							224.0	236.0	232.0					2																	50765580		2197	4300	6497	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50765580G>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1954C>A	2.37:g.50765580G>T	ENSP00000384311:p.Gln652Lys					NRXN1_uc002rxb.3_Missense_Mutation_p.Q324K|NRXN1_uc002rxe.3_Missense_Mutation_p.Q652K|NRXN1_uc002rxc.1_RNA	p.Q692K	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		10	3551	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:Variant_position_missing_in_P58400_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.2074C>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.073738	0.55646	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97;-0.97	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.54886	0.1886	N	0.04043	-0.29	0.50171	D	0.999856	B;B;B	0.19331	0.035;0.013;0.016	B;B;B	0.21360	0.016;0.008;0.034	T	0.51942	-0.8641	10	0.15066	T	0.55	.	18.8479	0.92215	0.0:0.0:1.0:0.0	.	692;652;644	Q9ULB1-3;F8WB18;A7E294	.;.;.	K	692;652;644;652;693;644;652	ENSP00000385142:Q692K;ENSP00000384311:Q652K;ENSP00000434015:Q644K;ENSP00000385017:Q652K;ENSP00000385434:Q644K;ENSP00000385681:Q652K	ENSP00000385017:Q652K	Q	-	1	0	NRXN1	50619084	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.657000	0.98554	2.682000	0.91365	0.585000	0.79938	CAA		0.507	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			127	261	1	0	7.61515e-48	0.00361	1.51747e-47	127	261				
LRRTM4	80059	broad.mit.edu	37	2	76975866	76975867	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:76975866_76975867GG>TT	ENST00000409093.1	-	4	2063_2064	c.1727_1728CC>AA	c.(1726-1728)gCC>gAA	p.A576E	LRRTM4_ENST00000409911.1_Missense_Mutation_p.A577E|LRRTM4_ENST00000409884.1_Missense_Mutation_p.A576E			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	576					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.A576E(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CTGCCGACCTGGCGATGGTGGC	0.609																																							uc002snr.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(3)|ovary(1)	4						c.(1726-1728)GCC>GAA		leucine rich repeat transmembrane neuronal 4																																				SO:0001583	missense	80059					integral to membrane		g.chr2:76975866_76975867GG>TT	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1727_1728delinsTT	2.37:g.76975866_76975867delinsTT	ENSP00000386357:p.Ala576Glu					LRRTM4_uc002snq.2_Missense_Mutation_p.A576E	p.A576E	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	4	2142_2143	-			576			Cytoplasmic (Potential).		Q4FZ98|Q6UXJ7	Missense_Mutation	DNP	ENST00000409093.1	37	c.1727_1728CC>AA	CCDS46346.1																																																																																				0.609	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		36	139	0	0	0	0.004672	0	36	139				
LRRTM4	80059	broad.mit.edu	37	2	76975892	76975892	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:76975892C>A	ENST00000409093.1	-	4	2038	c.1702G>T	c.(1702-1704)Gac>Tac	p.D568Y	LRRTM4_ENST00000409911.1_Missense_Mutation_p.D569Y|LRRTM4_ENST00000409884.1_Missense_Mutation_p.D568Y			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	568					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.D568Y(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AAGCTGTGGTCTCGGCCCAGC	0.607																																							uc002snr.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(3)|ovary(1)	4						c.(1702-1704)GAC>TAC		leucine rich repeat transmembrane neuronal 4							140.0	129.0	133.0					2																	76975892		1568	3582	5150	SO:0001583	missense	80059					integral to membrane		g.chr2:76975892C>A	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1702G>T	2.37:g.76975892C>A	ENSP00000386357:p.Asp568Tyr					LRRTM4_uc002snq.2_Missense_Mutation_p.D568Y	p.D568Y	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	4	2117	-			568			Cytoplasmic (Potential).		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.1702G>T	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705914	0.68615	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093	T;T;T	0.60040	0.22;0.25;0.25	5.91	5.91	0.95273	.	.	.	.	.	T	0.57021	0.2025	N	0.24115	0.695	0.80722	D	1	D	0.61697	0.99	P	0.51615	0.675	T	0.61297	-0.7091	9	0.87932	D	0	.	17.7956	0.88568	0.0:1.0:0.0:0.0	.	568	Q86VH4	LRRT4_HUMAN	Y	569;568;568	ENSP00000387228:D569Y;ENSP00000387297:D568Y;ENSP00000386357:D568Y	ENSP00000386357:D568Y	D	-	1	0	LRRTM4	76829400	1.000000	0.71417	0.967000	0.41034	0.537000	0.34900	5.528000	0.67129	2.799000	0.96334	0.650000	0.86243	GAC		0.607	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		15	141	1	0	4.96729e-08	0.008871	6.10842e-08	15	141				
LRRTM4	80059	broad.mit.edu	37	2	77745809	77745809	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:77745809G>T	ENST00000409093.1	-	3	1522	c.1186C>A	c.(1186-1188)Caa>Aaa	p.Q396K	LRRTM4_ENST00000409911.1_Missense_Mutation_p.Q397K|LRRTM4_ENST00000409282.1_Missense_Mutation_p.Q397K|LRRTM4_ENST00000409884.1_Missense_Mutation_p.Q396K|LRRTM4_ENST00000409088.3_Missense_Mutation_p.Q396K			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	396					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.Q396K(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AAGGTGGATTGGGTGACGTCA	0.493																																							uc002snr.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(3)|ovary(1)	4						c.(1186-1188)CAA>AAA		leucine rich repeat transmembrane neuronal 4							147.0	142.0	144.0					2																	77745809		1894	4111	6005	SO:0001583	missense	80059					integral to membrane		g.chr2:77745809G>T	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1186C>A	2.37:g.77745809G>T	ENSP00000386357:p.Gln396Lys					LRRTM4_uc002snq.2_Missense_Mutation_p.Q396K|LRRTM4_uc002sns.2_Missense_Mutation_p.Q396K|LRRTM4_uc002snt.2_Missense_Mutation_p.Q397K	p.Q396K	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1601	-			396			Extracellular (Potential).		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.1186C>A	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.561940	0.00136	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4	5.68	5.68	0.88126	.	0.750476	0.12951	N	0.425827	T	0.36799	0.0980	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.13145	0.007;0.001;0.0	B;B;B	0.10450	0.005;0.003;0.0	T	0.09079	-1.0691	10	0.05721	T	0.95	.	11.7865	0.52045	0.0808:0.0:0.9192:0.0	.	397;396;396	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	K	397;396;396;396;397	ENSP00000387228:Q397K;ENSP00000387297:Q396K;ENSP00000386357:Q396K;ENSP00000386236:Q396K;ENSP00000386286:Q397K	ENSP00000386236:Q396K	Q	-	1	0	LRRTM4	77599317	0.995000	0.38212	0.192000	0.23308	0.147000	0.21601	3.373000	0.52394	2.670000	0.90874	0.655000	0.94253	CAA		0.493	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		5	98	1	0	0.000602214	0.000602	0.000643462	5	98				
INHBB	3625	broad.mit.edu	37	2	121107308	121107308	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:121107308G>T	ENST00000295228.3	+	2	1128	c.1082G>T	c.(1081-1083)cGg>cTg	p.R361L		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	361					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)	p.R361L(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				TACCGCATGCGGGGTCTGAAC	0.607																																							uc002tmn.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(2)|skin(1)	3						c.(1081-1083)CGG>CTG		inhibin beta B subunit preproprotein							42.0	42.0	42.0					2																	121107308		2203	4300	6503	SO:0001583	missense	3625				activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity	g.chr2:121107308G>T		CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"""Endogenous ligands"""	6067	protein-coding gene	gene with protein product		147390	"""inhibin, beta B (activin AB beta polypeptide)"""			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.1082G>T	2.37:g.121107308G>T	ENSP00000295228:p.Arg361Leu						p.R361L	NM_002193	NP_002184	P09529	INHBB_HUMAN			2	1128	+		Prostate(154;0.122)	361					Q53T31|Q8N1D3	Missense_Mutation	SNP	ENST00000295228.3	37	c.1082G>T	CCDS2132.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440223	0.83993	.	.	ENSG00000163083	ENST00000295228	D	0.85013	-1.93	4.57	4.57	0.56435	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.85622	0.5739	L	0.38838	1.175	0.58432	D	0.999994	P	0.39181	0.663	P	0.49387	0.609	D	0.87548	0.2463	10	0.87932	D	0	-4.6967	16.2785	0.82657	0.0:0.0:1.0:0.0	.	361	P09529	INHBB_HUMAN	L	361	ENSP00000295228:R361L	ENSP00000295228:R361L	R	+	2	0	INHBB	120823778	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.569000	0.98170	2.368000	0.80403	0.462000	0.41574	CGG		0.607	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254234.1			35	74	1	0	3.86903e-22	0.002836	6.26852e-22	35	74				
MYO7B	4648	broad.mit.edu	37	2	128381727	128381727	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:128381727G>T	ENST00000409816.2	+	28	3833	c.3801G>T	c.(3799-3801)caG>caT	p.Q1267H	RP11-286H15.1_ENST00000609697.1_RNA|MYO7B_ENST00000409090.1_Missense_Mutation_p.Q120H|MYO7B_ENST00000389524.4_Missense_Mutation_p.Q1267H|MYO7B_ENST00000428314.1_Missense_Mutation_p.Q1267H			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1267	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.Q1267H(2)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGTGTGAGCAGATGGCCCAGG	0.662																																							uc002top.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(3799-3801)CAG>CAT		myosin VIIB							23.0	29.0	27.0					2																	128381727		2008	4158	6166	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128381727G>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.3801G>T	2.37:g.128381727G>T	ENSP00000386461:p.Gln1267His					MYO7B_uc002toq.1_Missense_Mutation_p.Q120H|MYO7B_uc002tor.1_Missense_Mutation_p.Q120H	p.Q1267H	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	29	3854	+	Colorectal(110;0.1)		1267			FERM 1.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.3801G>T	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	.	18.60	3.659529	0.67586	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000437387;ENST00000409090	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93	3.67	0.817	0.18773	Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.83949	0.5365	M	0.87097	2.86	0.45227	D	0.998237	D	0.89917	1.0	D	0.72982	0.979	T	0.81061	-0.1103	10	0.49607	T	0.09	.	7.5265	0.27658	0.3761:0.0:0.6239:0.0	.	1267	Q6PIF6	MYO7B_HUMAN	H	1267;1267;120;1267;120;120	ENSP00000374175:Q1267H;ENSP00000415090:Q1267H;ENSP00000386461:Q1267H;ENSP00000404927:Q120H;ENSP00000386850:Q120H	ENSP00000272666:Q120H	Q	+	3	2	MYO7B	128098197	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	2.550000	0.45811	0.164000	0.19529	0.491000	0.48974	CAG		0.662	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		3	9	1	0	0.004672	0.004672	0.00494363	3	9				
POTEF	728378	broad.mit.edu	37	2	130878085	130878085	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:130878085C>T	ENST00000409914.2	-	3	403	c.4G>A	c.(4-6)Gtg>Atg	p.V2M	POTEF_ENST00000361163.4_Missense_Mutation_p.V2M|POTEF_ENST00000357462.5_Missense_Mutation_p.V2M|POTEF_ENST00000360967.5_Missense_Mutation_p.V2M	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	2					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						ACCTCAACCACCATCTGCTTT	0.527																																							uc010fmh.2		NA																	0				skin(3)|ovary(2)	5						c.(4-6)GTG>ATG		prostate, ovary, testis expressed protein on							30.0	30.0	30.0					2																	130878085		2140	4214	6354	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130878085C>T	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.4G>A	2.37:g.130878085C>T	ENSP00000386786:p.Val2Met						p.V2M	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			3	404	-			2					A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.4G>A	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	7.671	0.686921	0.14973	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	D;D;T;T	0.81499	-1.5;-1.5;1.11;1.07	.	.	.	.	.	.	.	.	T	0.72716	0.3495	L	0.27053	0.805	0.09310	N	1	P	0.51240	0.943	P	0.49361	0.608	T	0.62987	-0.6737	7	0.87932	D	0	.	.	.	.	.	2	A5A3E0	POTEF_HUMAN	M	2	ENSP00000350052:V2M;ENSP00000386786:V2M;ENSP00000354232:V2M;ENSP00000355012:V2M	ENSP00000350052:V2M	V	-	1	0	POTEF	130594555	0.003000	0.15002	0.049000	0.19019	0.049000	0.14656	-0.344000	0.07780	0.149000	0.19098	0.152000	0.16155	GTG		0.527	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		4	38	0	0	0	0.006214	0	4	38				
AMER3	205147	broad.mit.edu	37	2	131521360	131521360	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:131521360C>T	ENST00000423981.1	+	2	1825	c.1715C>T	c.(1714-1716)cCg>cTg	p.P572L	AMER3_ENST00000321420.4_Missense_Mutation_p.P572L	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	572					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.P572L(1)									TGGGCACACCCGGGCACCACA	0.677																																							uc002trw.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(1714-1716)CCG>CTG		hypothetical protein LOC205147							22.0	27.0	25.0					2																	131521360		2202	4297	6499	SO:0001583	missense	205147							g.chr2:131521360C>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1715C>T	2.37:g.131521360C>T	ENSP00000392700:p.Pro572Leu					FAM123C_uc010fmv.2_Missense_Mutation_p.P572L|FAM123C_uc010fms.1_Missense_Mutation_p.P572L|FAM123C_uc010fmt.1_Missense_Mutation_p.P572L|FAM123C_uc010fmu.1_Missense_Mutation_p.P572L	p.P572L	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	1905	+	Colorectal(110;0.1)		572					B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.1715C>T	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	9.944	1.218215	0.22373	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.38887	1.11;1.11	4.17	1.33	0.21861	.	0.887861	0.09324	N	0.817871	T	0.21631	0.0521	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19877	-1.0292	10	0.49607	T	0.09	.	5.6497	0.17610	0.0:0.649:0.0:0.351	.	572	Q8N944	F123C_HUMAN	L	572	ENSP00000314914:P572L;ENSP00000392700:P572L	ENSP00000314914:P572L	P	+	2	0	FAM123C	131237830	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.099000	0.15210	0.515000	0.28320	0.561000	0.74099	CCG		0.677	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		11	55	0	0	0	0.010729	0	11	55				
LOC401010	401010	broad.mit.edu	37	2	132201174	132201174	+	IGR	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:132201174G>A								AC073869.19 (34552 upstream) : RP11-109E12.1 (18219 downstream)																							AGTAGAACAAGGGTTGGAGGG	0.582																																							uc002tst.2		NA																	0					0						c.(826-828)CCC>CCT		SubName: Full=cDNA FLJ12694 fis, clone NT2RP1000358, highly similar to Homo sapiens mRNA; cDNA DKFZp564C186 (from clone DKFZp564C186);																																				SO:0001628	intergenic_variant	401010							g.chr2:132201174G>A																													2.37:g.132201174G>A							p.P276P	NR_002826						1	1294	-									Silent	SNP		37	c.828C>T																																																																																				0	0.582									19	13	0	0	0	0.007413	0	19	13				
LRP1B	53353	broad.mit.edu	37	2	141267498	141267498	+	Splice_Site	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:141267498G>A	ENST00000389484.3	-	52	9368	c.8397C>T	c.(8395-8397)tgC>tgT	p.C2799C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2799	LDL-receptor class A 17. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.C2799C(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGTTCATACCGCAGCCTGCTG	0.507										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	2	Substitution - coding silent(2)		lung(2)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(8395-8397)TGC>TGT		low density lipoprotein-related protein 1B							122.0	105.0	111.0					2																	141267498		2203	4300	6503	SO:0001630	splice_region_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141267498G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8398+1C>T	2.37:g.141267498G>A		TSP Lung(27;0.18)					p.C2799C	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	52	9369	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2799			Extracellular (Potential).|LDL-receptor class A 17.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.8397C>T	CCDS2182.1																																																																																				0.507	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Silent	27	121	0	0	0	0.00632	0	27	121				
SCN3A	6328	broad.mit.edu	37	2	165984466	165984466	+	Missense_Mutation	SNP	C	C	A	rs202046674		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:165984466C>A	ENST00000360093.3	-	18	3559	c.3068G>T	c.(3067-3069)cGg>cTg	p.R1023L	SCN3A_ENST00000409101.3_Missense_Mutation_p.R974L|SCN3A_ENST00000283254.7_Missense_Mutation_p.R1023L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1023					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R1023L(2)|p.R974L(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAAACACTCCCGCATCTTATT	0.358																																							uc002ucx.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(3067-3069)CGG>CTG		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						74.0	78.0	77.0					2																	165984466		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165984466C>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.3068G>T	2.37:g.165984466C>A	ENSP00000353206:p.Arg1023Leu					SCN3A_uc002ucy.2_Missense_Mutation_p.R974L|SCN3A_uc002ucz.2_Missense_Mutation_p.R974L|SCN3A_uc002uda.1_Missense_Mutation_p.R843L|SCN3A_uc002udb.1_Missense_Mutation_p.R843L	p.R1023L	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			18	3560	-			1023					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.3068G>T		.	.	.	.	.	.	.	.	.	.	C	7.585	0.669500	0.14776	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	6.04	3.27	0.37495	Sodium ion transport-associated (1);	0.113059	0.40222	N	0.001153	T	0.81014	0.4735	L	0.55990	1.75	0.80722	D	1	B;B;B;B;P	0.35124	0.031;0.192;0.118;0.118;0.485	B;B;B;B;P	0.45577	0.019;0.109;0.059;0.059;0.486	T	0.70630	-0.4819	10	0.11182	T	0.66	.	9.334	0.38038	0.0:0.664:0.0:0.336	.	1023;974;974;974;1023	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	L	1023;1023;974;974	ENSP00000353206:R1023L;ENSP00000283254:R1023L;ENSP00000386726:R974L;ENSP00000403348:R974L	ENSP00000283254:R1023L	R	-	2	0	SCN3A	165692712	0.012000	0.17670	0.985000	0.45067	0.935000	0.57460	0.303000	0.19210	0.435000	0.26365	0.561000	0.74099	CGG		0.358	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		29	78	1	0	1.32181e-22	0.007291	2.16729e-22	29	78				
PPIG	9360	broad.mit.edu	37	2	170493474	170493475	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:170493474_170493475GG>CT	ENST00000260970.3	+	14	1926_1927	c.1706_1707GG>CT	c.(1705-1707)aGG>aCT	p.R569T	PPIG_ENST00000448752.2_Missense_Mutation_p.R569T|PPIG_ENST00000409714.3_Missense_Mutation_p.R554T	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	569	Arg/Ser-rich (RS domain).				protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)	p.R569T(2)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AGCAGAAGTAGGGACAGAAGCA	0.436																																							uc002uez.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(1705-1707)AGG>ACT		peptidylprolyl isomerase G	L-Proline(DB00172)																																			SO:0001583	missense	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170493474_170493475GG>CT	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	Exception_encountered	2.37:g.170493474_170493475delinsCT	ENSP00000260970:p.Arg569Thr					PPIG_uc010fpx.2_Missense_Mutation_p.R554T|PPIG_uc010fpy.2_Missense_Mutation_p.R562T|PPIG_uc002ufb.2_Missense_Mutation_p.R569T|PPIG_uc002ufd.2_Missense_Mutation_p.R566T	p.R569T	NM_004792	NP_004783	Q13427	PPIG_HUMAN			14	1926_1927	+			569			Arg/Ser-rich (RS domain).		D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	DNP	ENST00000260970.3	37	c.1706_1707GG>CT	CCDS2235.1																																																																																				0.436	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			8	55	0	0	0	0.004672	0	8	55				
TTN	7273	broad.mit.edu	37	2	179396279	179396279	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:179396279G>A	ENST00000591111.1	-	308	100364	c.100140C>T	c.(100138-100140)ggC>ggT	p.G33380G	TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000342175.6_Silent_p.G26148G|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Silent_p.G35021G|TTN_ENST00000342992.6_Silent_p.G32453G|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000359218.5_Silent_p.G26081G|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000460472.2_Silent_p.G25956G|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000431259.2_RNA			Q8WZ42	TITIN_HUMAN	titin	33380	Ig-like 146.				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)	p.G26081G(1)|p.G26148G(1)|p.G32451G(1)|p.G25956G(1)|p.G32453G(1)		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)			CAGAAGCTTCGCCCTTGTAGT	0.507																																							uc010zfg.1		NA																	5	Substitution - coding silent(5)		lung(5)	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.(97357-97359)GGC>GGT		titin isoform N2-A							117.0	116.0	116.0					2																	179396279		2020	4188	6208	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179396279G>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.100140C>T	2.37:g.179396279G>A						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G26148G|TTN_uc010zfi.1_Silent_p.G26081G|TTN_uc010zfj.1_Silent_p.G25956G|TTN_uc002umq.2_5'Flank	p.G32453G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	97583	-			33380					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.97359C>T																																																																																					0.507	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	93	0	0	0	0.001984	0	7	93				
TTN	7273	broad.mit.edu	37	2	179542347	179542347	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:179542347C>A	ENST00000591111.1	-	144	33565		c.e144+1		TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Splice_Site|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_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)	p.?(2)		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)			AGCTGCTATACCTGGTGCAGG	0.418																																							uc010zfg.1		NA																	2	Unknown(2)		lung(2)	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.e143+1		titin isoform N2-A							41.0	41.0	41.0					2																	179542347		1851	4091	5942	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179542347C>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.33340+1G>T	2.37:g.179542347C>A						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Splice_Site_p.V6848_splice|TTN_uc010fre.1_Intron|TTN_uc002una.1_Splice_Site|TTN_uc010frf.1_Splice_Site	p.V10187_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		143	30783	-								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	Splice_Site	SNP	ENST00000591111.1	37	c.30559_splice		.	.	.	.	.	.	.	.	.	.	C	20.7	4.036266	0.75617	.	.	ENSG00000155657	ENST00000342992	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0796	0.59107	0.0:0.9277:0.0:0.0723	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179250592	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.584000	0.46102	2.941000	0.99782	0.655000	0.94253	.		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Intron	18	36	1	0	3.41278e-10	0.00499	4.47928e-10	18	36				
COL3A1	1281	broad.mit.edu	37	2	189849653	189849653	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:189849653G>A	ENST00000304636.3	+	2	417	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	COL3A1_ENST00000317840.5_Missense_Mutation_p.E83K	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	83	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.E83K(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TCCATTTGGAGAATGTTGTGC	0.398																																							uc002uqj.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(247-249)GAA>AAA		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						79.0	69.0	72.0					2																	189849653		2203	4299	6502	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189849653G>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.247G>A	2.37:g.189849653G>A	ENSP00000304408:p.Glu83Lys						p.E83K	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		2	364	+			83			VWFC.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.247G>A	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	35	5.538483	0.96474	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	T;T	0.74737	-0.87;-0.87	5.19	5.19	0.71726	von Willebrand factor, type C (4);	0.000000	0.46758	D	0.000261	D	0.87095	0.6092	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86931	0.2073	10	0.45353	T	0.12	.	19.0681	0.93122	0.0:0.0:1.0:0.0	.	83	P02461	CO3A1_HUMAN	K	83	ENSP00000304408:E83K;ENSP00000315243:E83K	ENSP00000304408:E83K	E	+	1	0	COL3A1	189557898	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	9.563000	0.98148	2.573000	0.86826	0.467000	0.42956	GAA		0.398	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		3	74	0	0	0	0.004672	0	3	74				
SF3B1	23451	broad.mit.edu	37	2	198266709	198266709	+	Splice_Site	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:198266709C>G	ENST00000335508.6	-	15	2314	c.2223G>C	c.(2221-2223)aaG>aaC	p.K741N	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	741					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.K741N(2)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTGGATTTACCTTTCCTCTGT	0.343			Mis		myelodysplastic syndrome																																		uc002uue.2		NA		Dom	yes		2	2q33.1	23451		"""splicing factor 3b, subunit 1, 155kDa"""			L					2	Substitution - Missense(2)		lung(2)	pancreas(3)|ovary(1)|breast(1)|skin(1)	6						c.(2221-2223)AAG>AAC		splicing factor 3b, subunit 1 isoform 1							88.0	84.0	85.0					2																	198266709		2203	4300	6503	SO:0001630	splice_region_variant	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198266709C>G	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2223+1G>C	2.37:g.198266709C>G							p.K741N	NM_012433	NP_036565	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		15	2271	-			741					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.2223G>C	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.363754	0.82353	.	.	ENSG00000115524	ENST00000335508	T	0.66099	-0.19	5.71	4.83	0.62350	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85120	0.5624	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.89843	0.4004	9	.	.	.	.	14.6098	0.68507	0.0:0.9299:0.0:0.0701	.	741	O75533	SF3B1_HUMAN	N	741	ENSP00000335321:K741N	.	K	-	3	2	SF3B1	197974954	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	4.541000	0.60670	1.404000	0.46819	0.655000	0.94253	AAG		0.343	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		Missense_Mutation	25	41	0	0	0	0.004656	0	25	41				
MAP2	4133	broad.mit.edu	37	2	210574656	210574656	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:210574656G>T	ENST00000360351.4	+	12	5257	c.4751G>T	c.(4750-4752)aGa>aTa	p.R1584I	MAP2_ENST00000392194.1_Missense_Mutation_p.R228I|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000447185.1_Missense_Mutation_p.R1580I|MAP2_ENST00000199940.6_Missense_Mutation_p.R285I|MAP2_ENST00000361559.4_Missense_Mutation_p.R228I	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1584					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.R285I(2)|p.R1584I(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CCAATTCGCAGAGCAGGGAAG	0.498																																					Pancreas(27;423 979 28787 29963)	Pancreas(27;423 979 28787 29963)	uc002vde.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(4750-4752)AGA>ATA		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						105.0	91.0	96.0					2																	210574656		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210574656G>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4751G>T	2.37:g.210574656G>T	ENSP00000353508:p.Arg1584Ile					MAP2_uc002vdd.1_Missense_Mutation_p.R285I|MAP2_uc002vdf.1_Missense_Mutation_p.R228I|MAP2_uc002vdg.1_Missense_Mutation_p.R228I|MAP2_uc002vdh.1_Missense_Mutation_p.R285I|MAP2_uc002vdi.1_Missense_Mutation_p.R1580I	p.R1584I	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	12	4999	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1584					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.4751G>T	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939633	0.73557	.	.	ENSG00000078018	ENST00000199940;ENST00000360351;ENST00000361559;ENST00000392194;ENST00000447185	T;T;T;T;T	0.26518	1.73;2.91;2.14;2.14;2.96	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000009	T	0.42471	0.1204	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;0.996;0.999;0.998	D;D;D;D;D	0.87578	0.998;0.931;0.974;0.996;0.996	T	0.12578	-1.0542	10	0.39692	T	0.17	-19.9025	19.3407	0.94339	0.0:0.0:1.0:0.0	.	1580;228;229;1584;285	P11137-3;P11137-2;Q59FX9;P11137;Q8IUX2	.;.;.;MAP2_HUMAN;.	I	285;1584;228;228;1580	ENSP00000199940:R285I;ENSP00000353508:R1584I;ENSP00000355290:R228I;ENSP00000376032:R228I;ENSP00000392164:R1580I	ENSP00000199940:R285I	R	+	2	0	MAP2	210282901	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	6.518000	0.73764	2.629000	0.89072	0.563000	0.77884	AGA		0.498	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		40	99	1	0	7.62715e-32	0.007835	1.39746e-31	40	99				
SPAG16	79582	broad.mit.edu	37	2	214162030	214162030	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:214162030G>T	ENST00000331683.5	+	3	323	c.228G>T	c.(226-228)ctG>ctT	p.L76L	SPAG16_ENST00000447990.1_Silent_p.L76L|SPAG16_ENST00000272898.7_Silent_p.L76L|SPAG16_ENST00000413312.1_Silent_p.L45L|SPAG16_ENST00000432529.2_Silent_p.L76L|SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000374309.3_Missense_Mutation_p.W22L	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	76					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.L76L(2)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AAGAAGATCTGGCAAAAGCAA	0.373																																							uc002veq.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(226-228)CTG>CTT		sperm associated antigen 16 isoform 1							86.0	89.0	88.0					2																	214162030		2203	4300	6503	SO:0001819	synonymous_variant	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214162030G>T	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.228G>T	2.37:g.214162030G>T						SPAG16_uc010fuz.1_Missense_Mutation_p.W13L|SPAG16_uc002ver.2_Silent_p.L22L|SPAG16_uc010zjk.1_Missense_Mutation_p.W22L|SPAG16_uc002veo.2_Silent_p.L76L|SPAG16_uc002vep.1_Silent_p.L76L|SPAG16_uc002ves.1_Silent_p.L45L	p.L76L	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	3	320	+		Renal(323;0.00461)	76					Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Silent	SNP	ENST00000331683.5	37	c.228G>T	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892575	0.33442	.	.	ENSG00000144451	ENST00000374309	T	0.56611	0.45	5.7	4.8	0.61643	.	.	.	.	.	T	0.38480	0.1042	.	.	.	0.23649	N	0.997206	B;B	0.11235	0.002;0.004	B;B	0.11329	0.003;0.006	T	0.19647	-1.0299	7	.	.	.	.	11.9464	0.52930	0.0:0.0:0.8265:0.1735	.	22;13	B4DYB5;Q8N0X2-2	.;.	L	22	ENSP00000363428:W22L	.	W	+	2	0	SPAG16	213870275	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.008000	0.49544	1.382000	0.46385	0.557000	0.71058	TGG		0.373	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		8	67	1	0	1.12685e-05	0.004482	1.28179e-05	8	67				
ALPI	248	broad.mit.edu	37	2	233321921	233321921	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:233321921C>A	ENST00000295463.3	+	5	614	c.537C>A	c.(535-537)taC>taA	p.Y179*		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	179					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)	p.Y179*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCGGCACCTACGCACACACAG	0.607																																							uc002vst.3		NA																	1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(535-537)TAC>TAA		intestinal alkaline phosphatase precursor							77.0	76.0	76.0					2																	233321921		2203	4300	6503	SO:0001587	stop_gained	248				phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	g.chr2:233321921C>A	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.537C>A	2.37:g.233321921C>A	ENSP00000295463:p.Tyr179*					ALPI_uc002vsu.3_Nonsense_Mutation_p.Y90*	p.Y179*	NM_001631	NP_001622	P09923	PPBI_HUMAN		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)	5	614	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	179					B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Nonsense_Mutation	SNP	ENST00000295463.3	37	c.537C>A	CCDS2492.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374016	0.42105	.	.	ENSG00000163295	ENST00000295463	.	.	.	5.5	-5.37	0.02681	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6968	0.69129	0.0:0.3963:0.0:0.6037	.	.	.	.	X	179	.	ENSP00000295463:Y179X	Y	+	3	2	ALPI	233030165	0.003000	0.15002	0.007000	0.13788	0.013000	0.08279	-1.194000	0.03046	-1.093000	0.03058	-0.215000	0.12644	TAC		0.607	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631		10	105	1	0	3.86212e-05	0.008291	4.29474e-05	10	105				
INPP5D	3635	broad.mit.edu	37	2	234112954	234112954	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:234112954C>T	ENST00000359570.5	+	28	3122	c.3122C>T	c.(3121-3123)cCc>cTc	p.P1041L	RN7SL32P_ENST00000580514.1_RNA|INPP5D_ENST00000455936.2_Missense_Mutation_p.P805L|INPP5D_ENST00000450745.1_Missense_Mutation_p.P805L			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	1053	Pro-rich.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)	p.P1053L(1)		central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGCCCGGAACCCGGCATCTTG	0.682																																					NSCLC(82;1215 1426 16163 20348 41018)	NSCLC(82;1215 1426 16163 20348 41018)	uc010zmo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3157-3159)CCC>CTC		SH2 containing inositol phosphatase isoform a							30.0	40.0	37.0					2																	234112954		1923	4126	6049	SO:0001583	missense	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234112954C>T	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.3122C>T	2.37:g.234112954C>T	ENSP00000352575:p.Pro1041Leu					INPP5D_uc010zmp.1_Missense_Mutation_p.P1052L	p.P1053L	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	25	3311	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	1053			Pro-rich.		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.3158C>T		.	.	.	.	.	.	.	.	.	.	C	15.12	2.737838	0.49045	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	D;D;D;D;D;D	0.96651	-4.03;-4.07;-4.08;-4.08;-4.08;-4.08	4.61	3.73	0.42828	.	0.756487	0.12626	N	0.452567	D	0.97586	0.9209	.	.	.	0.35468	D	0.797089	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.96864	0.9634	9	0.51188	T	0.08	.	8.894	0.35453	0.0:0.8952:0.0:0.1048	.	1052;1053	Q92835-2;Q92835	.;SHIP1_HUMAN	L	1041;805;805;674;674;674	ENSP00000352575:P1041L;ENSP00000407916:P805L;ENSP00000404610:P805L;ENSP00000400151:P674L;ENSP00000397421:P674L;ENSP00000405338:P674L	ENSP00000352575:P1041L	P	+	2	0	INPP5D	233777693	0.028000	0.19301	0.501000	0.27601	0.481000	0.33189	1.743000	0.38258	1.059000	0.40554	0.655000	0.94253	CCC		0.682	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		7	60	0	0	0	0.004482	0	7	60				
UGT1A10	54575	broad.mit.edu	37	2	234545808	234545808	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:234545808T>A	ENST00000344644.5	+	1	709	c.640T>A	c.(640-642)Ttg>Atg	p.L214M	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Missense_Mutation_p.L214M	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	214					cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)	p.L214M(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	CATCGTGCACTTGGAGGACCA	0.453																																							uc002vur.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(640-642)TTG>ATG		UDP glycosyltransferase 1 family, polypeptide							205.0	212.0	210.0					2																	234545808		2203	4300	6503	SO:0001583	missense	54575				flavone metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding	g.chr2:234545808T>A	U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"""UDP glucuronosyltransferases"""	12531	other	complex locus constituent		606435	"""UDP glycosyltransferase 1 family, polypeptide A10"""			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.640T>A	2.37:g.234545808T>A	ENSP00000343838:p.Leu214Met					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Missense_Mutation_p.L214M	p.L214M	NM_019075	NP_061948	Q9HAW8	UD110_HUMAN		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	686	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	214					O00474|Q6NT91|Q7Z6H8	Missense_Mutation	SNP	ENST00000344644.5	37	c.640T>A	CCDS33403.1	.	.	.	.	.	.	.	.	.	.	T	4.381	0.070350	0.08436	.	.	ENSG00000242515	ENST00000344644;ENST00000373445	T;T	0.73152	-0.72;-0.72	3.52	-7.04	0.01578	.	.	.	.	.	T	0.62962	0.2471	M	0.71206	2.165	0.09310	N	1	B;B	0.32382	0.238;0.368	B;B	0.35114	0.142;0.196	T	0.55029	-0.8204	9	0.52906	T	0.07	.	5.4497	0.16556	0.0944:0.503:0.1824:0.2202	.	214;214	Q9HAW8;Q7Z6H8	UD110_HUMAN;.	M	214	ENSP00000343838:L214M;ENSP00000362544:L214M	ENSP00000343838:L214M	L	+	1	2	UGT1A10	234210547	0.000000	0.05858	0.000000	0.03702	0.228000	0.25075	-5.101000	0.00151	-2.407000	0.00574	0.333000	0.21579	TTG		0.453	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075		68	311	0	0	0	0.00361	0	68	311				
SNPH	9751	broad.mit.edu	37	20	1286120	1286120	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr20:1286120G>T	ENST00000381873.3	+	6	1143	c.907G>T	c.(907-909)Ggt>Tgt	p.G303C	SNPH_ENST00000381867.1_Missense_Mutation_p.G347C	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	303					brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)	p.G303C(2)|p.G347C(2)		endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CATGGAGGCTGGTGTGCAGGC	0.627																																							uc002wes.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(907-909)GGT>TGT		syntaphilin							69.0	65.0	67.0					20																	1286120		2203	4300	6503	SO:0001583	missense	9751				synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	g.chr20:1286120G>T		CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.907G>T	20.37:g.1286120G>T	ENSP00000371297:p.Gly303Cys					SNPH_uc002wet.2_Missense_Mutation_p.G347C	p.G303C	NM_014723	NP_055538	O15079	SNPH_HUMAN			6	1143	+			303					Q8IYI3	Missense_Mutation	SNP	ENST00000381873.3	37	c.907G>T	CCDS13012.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.378308	0.42207	.	.	ENSG00000101298	ENST00000381873;ENST00000381867	.	.	.	4.75	4.75	0.60458	.	0.302375	0.27654	N	0.018408	T	0.47395	0.1443	L	0.27053	0.805	0.09310	N	0.999999	D;D	0.76494	0.999;0.975	D;P	0.66351	0.943;0.742	T	0.34428	-0.9829	9	0.66056	D	0.02	-21.3227	11.1024	0.48182	0.0858:0.0:0.9142:0.0	.	347;303	O15079-2;O15079	.;SNPH_HUMAN	C	303;347	.	ENSP00000371291:G347C	G	+	1	0	SNPH	1234120	0.945000	0.32115	0.133000	0.22050	0.786000	0.44442	3.786000	0.55431	2.479000	0.83701	0.561000	0.74099	GGT		0.627	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145240.2	NM_014723		38	97	1	0	4.29476e-34	0.00361	7.97598e-34	38	97				
SIRPB2	284759	broad.mit.edu	37	20	1460697	1460697	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr20:1460697C>A	ENST00000359801.3	-	2	135	c.99G>T	c.(97-99)caG>caT	p.Q33H	SIRPB2_ENST00000608747.1_5'UTR|SIRPB2_ENST00000537284.1_5'UTR|SIRPB2_ENST00000444444.2_Missense_Mutation_p.Q33H	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	29	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.Q33H(2)|p.Q132H(2)		endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCCTGCTGCTCTGCCCAGAGG	0.527																																							uc002wfg.2		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(97-99)CAG>CAT		signal-regulatory protein beta 2 isoform 1							42.0	39.0	40.0					20																	1460697		1568	3581	5149	SO:0001583	missense	284759					integral to membrane		g.chr20:1460697C>A	AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16247	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type 1-like"", ""protein tyrosine phosphatase, non-receptor type substrate 1-like 3"""	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.99G>T	20.37:g.1460697C>A	ENSP00000352849:p.Gln33His					SIRPB2_uc002wfh.3_Missense_Mutation_p.Q33H|SIRPB2_uc010zpr.1_5'UTR	p.Q33H	NM_001122962	NP_001116434	Q5JXA9	SIRB2_HUMAN			2	327	-			33			Ig-like V-type 1.|Extracellular (Potential).		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000359801.3	37	c.99G>T	CCDS42849.1	.	.	.	.	.	.	.	.	.	.	C	9.578	1.122763	0.20877	.	.	ENSG00000196209	ENST00000359801;ENST00000444444;ENST00000381630;ENST00000381628	T;T;T	0.02421	4.68;4.35;4.3	4.44	-2.29	0.06805	Immunoglobulin-like (1);	0.657664	0.12372	N	0.474654	T	0.02848	0.0085	L	0.46157	1.445	0.09310	N	0.999995	B;P	0.44578	0.049;0.838	B;B	0.41691	0.023;0.364	T	0.40021	-0.9585	10	0.38643	T	0.18	-6.0138	4.9008	0.13773	0.0:0.3555:0.1606:0.484	.	33;33	E9PCW6;Q5JXA9	.;SIRB2_HUMAN	H	33	ENSP00000352849:Q33H;ENSP00000402438:Q33H;ENSP00000371043:Q33H	ENSP00000352849:Q33H	Q	-	3	2	SIRPB2	1408697	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.117000	0.03283	-0.254000	0.09500	-0.812000	0.03155	CAG		0.527	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077544.1	NM_178459		27	44	1	0	2.80507e-11	0.012213	3.80042e-11	27	44				
SIGLEC1	6614	broad.mit.edu	37	20	3677979	3677979	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr20:3677979C>A	ENST00000344754.4	-	9	2132	c.2133G>T	c.(2131-2133)ctG>ctT	p.L711L	SIGLEC1_ENST00000202578.4_Silent_p.L711L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	711	Ig-like C2-type 7.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.L711L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTGCAATGGCCAGGACAGTGG	0.637																																							uc002wja.2		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						c.(2131-2133)CTG>CTT		sialoadhesin precursor							74.0	66.0	69.0					20																	3677979		2203	4300	6503	SO:0001819	synonymous_variant	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3677979C>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.2133G>T	20.37:g.3677979C>A						SIGLEC1_uc002wiz.3_Silent_p.L711L	p.L711L	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN			9	2133	-			711			Ig-like C2-type 7.|Extracellular (Potential).		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	ENST00000344754.4	37	c.2133G>T	CCDS13060.1																																																																																				0.637	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		13	40	1	0	0.000219431	0.00245	0.000237717	13	40				
XKR7	343702	broad.mit.edu	37	20	30585000	30585000	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr20:30585000G>T	ENST00000562532.2	+	3	1654	c.1480G>T	c.(1480-1482)Ggg>Tgg	p.G494W		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	494						integral component of membrane (GO:0016021)		p.G494W(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGAGCGTGCAGGGACCCCCAC	0.692																																							uc002wxe.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|skin(1)	3						c.(1480-1482)GGG>TGG		XK, Kell blood group complex subunit-related							29.0	32.0	31.0					20																	30585000		2203	4299	6502	SO:0001583	missense	343702					integral to membrane		g.chr20:30585000G>T	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 7"", ""chromosome 20 open reading frame 159"""	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.1480G>T	20.37:g.30585000G>T	ENSP00000477059:p.Gly494Trp						p.G494W	NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	1654	+			494					Q9NUG5	Missense_Mutation	SNP	ENST00000562532.2	37	c.1480G>T	CCDS33459.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.723257	0.48728	.	.	ENSG00000101321	ENST00000217299	.	.	.	4.85	4.85	0.62838	.	0.270348	0.36200	N	0.002731	T	0.65207	0.2669	L	0.34521	1.04	0.40207	D	0.977585	D	0.65815	0.995	P	0.61940	0.896	T	0.70085	-0.4969	9	0.87932	D	0	-13.9382	17.137	0.86743	0.0:0.0:1.0:0.0	.	494	Q5GH72	XKR7_HUMAN	W	494	.	ENSP00000217299:G494W	G	+	1	0	XKR7	30048661	1.000000	0.71417	0.953000	0.39169	0.223000	0.24884	3.815000	0.55651	2.518000	0.84900	0.561000	0.74099	GGG		0.692	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718		9	72	1	0	7.48243e-07	0.006214	8.86205e-07	9	72				
MROH8	140699	broad.mit.edu	37	20	35737029	35737029	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr20:35737029T>C	ENST00000400441.3	-	23	2952	c.2953A>G	c.(2953-2955)Agg>Ggg	p.R985G	MROH8_ENST00000466091.1_5'UTR|MROH8_ENST00000217333.8_Missense_Mutation_p.R814G|MROH8_ENST00000441008.2_3'UTR			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	0								p.R985G(2)									GTACCCATCCTCCTGAGCTCA	0.453																																							uc010zvu.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2983-2985)AGG>GGG		hypothetical protein LOC140699 isoform 1							76.0	72.0	73.0					20																	35737029		1966	4164	6130	SO:0001583	missense	140699							g.chr20:35737029T>C	AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.2953A>G	20.37:g.35737029T>C	ENSP00000383291:p.Arg985Gly					C20orf132_uc002xgk.2_Missense_Mutation_p.R617G	p.R995G	NM_152503	NP_689716	Q9H579	CT132_HUMAN			25	3074	-		Myeloproliferative disorder(115;0.00878)	Error:Variant_position_missing_in_Q9H579_after_alignment					Q5JYQ6	Missense_Mutation	SNP	ENST00000400441.3	37	c.2983A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.546|3.546	-0.092723|-0.092723	0.07053|0.07053	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000417458|ENST00000400441;ENST00000217333	.|T;T	.|0.65364	.|1.38;-0.15	5.56|5.56	4.44|4.44	0.53790|0.53790	.|.	.|1.060040	.|0.07190	.|N	.|0.855553	T|T	0.50205|0.50205	0.1602|0.1602	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|B;B	.|0.27068	.|0.167;0.119	.|B;B	.|0.24155	.|0.034;0.051	T|T	0.37361|0.37361	-0.9709|-0.9709	5|10	.|0.26408	.|T	.|0.33	0.4124|0.4124	8.9356|8.9356	0.35697|0.35697	0.1652:0.0:0.0:0.8348|0.1652:0.0:0.0:0.8348	.|.	.|985;819	.|E7ETR9;Q9H579-2	.|.;.	G|G	612|985;814	.|ENSP00000383291:R985G;ENSP00000217333:R814G	.|ENSP00000217333:R814G	E|R	-|-	2|1	0|2	C20orf132|C20orf132	35170443|35170443	0.010000|0.010000	0.17322|0.17322	0.002000|0.002000	0.10522|0.10522	0.014000|0.014000	0.08584|0.08584	2.127000|2.127000	0.42035|0.42035	0.908000|0.908000	0.36671|0.36671	0.496000|0.496000	0.49642|0.49642	GAG|AGG		0.453	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503		3	10	0	0	0	0.009096	0	3	10				
SLC12A5	57468	broad.mit.edu	37	20	44664173	44664173	+	Splice_Site	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr20:44664173A>T	ENST00000454036.2	+	3	396	c.347A>T	c.(346-348)cAg>cTg	p.Q116L	SLC12A5_ENST00000243964.3_Splice_Site_p.Q93L|SLC12A5_ENST00000608944.1_Splice_Site_p.Q42L|SLC12A5_ENST00000372315.1_Splice_Site_p.Q93L	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	116					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.Q93L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AAGCCGGTGCAGGTGAGGACC	0.562																																							uc010zxl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(346-348)CAG>CTG		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						45.0	53.0	50.0					20																	44664173		2202	4300	6502	SO:0001630	splice_region_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44664173A>T	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.348+1A>T	20.37:g.44664173A>T						SLC12A5_uc002xra.2_Missense_Mutation_p.Q93L|SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.Q93L	p.Q116L	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			3	423	+		Myeloproliferative disorder(115;0.0122)	116			Cytoplasmic (Potential).		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.347A>T	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.738493	0.49045	.	.	ENSG00000124140	ENST00000454036;ENST00000372315;ENST00000539566;ENST00000243964	D;D;D;D	0.94931	-1.87;-3.18;-3.56;-1.86	4.81	4.81	0.61882	.	0.063054	0.64402	D	0.000004	D	0.89322	0.6682	N	0.22421	0.69	0.80722	D	1	B;B;B	0.13594	0.008;0.0;0.0	B;B;B	0.14023	0.01;0.002;0.0	D	0.85734	0.1333	10	0.39692	T	0.17	.	13.3322	0.60495	1.0:0.0:0.0:0.0	.	116;93;93	Q9H2X9;Q9H2X9-2;A8K143	S12A5_HUMAN;.;.	L	116;93;93;93	ENSP00000387694:Q116L;ENSP00000361389:Q93L;ENSP00000446091:Q93L;ENSP00000243964:Q93L	ENSP00000243964:Q93L	Q	+	2	0	SLC12A5	44097580	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	8.845000	0.92153	2.019000	0.59389	0.460000	0.39030	CAG		0.562	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1		Missense_Mutation	28	65	0	0	0	0.008361	0	28	65				
ADAMTS5	11096	broad.mit.edu	37	21	28296390	28296390	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr21:28296390G>T	ENST00000284987.5	-	8	2896	c.2775C>A	c.(2773-2775)tgC>tgA	p.C925*	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	925	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.C925*(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TCTTCAACAAGCATTGCTTAA	0.478																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2		NA																	2	Substitution - Nonsense(2)		lung(2)	upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(2773-2775)TGC>TGA		ADAM metallopeptidase with thrombospondin type 1							67.0	55.0	59.0					21																	28296390		2203	4300	6503	SO:0001587	stop_gained	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28296390G>T	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.2775C>A	21.37:g.28296390G>T	ENSP00000284987:p.Cys925*						p.C925*	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			8	3504	-			925			TSP type-1 2.		Q52LV4|Q9UKP2	Nonsense_Mutation	SNP	ENST00000284987.5	37	c.2775C>A	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	G	39	7.329151	0.98214	.	.	ENSG00000154736	ENST00000284987	.	.	.	6.07	2.56	0.30785	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.31458	N	0.66997	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5883	0.28006	0.6405:0.0:0.3595:0.0	.	.	.	.	X	925	.	ENSP00000284987:C925X	C	-	3	2	ADAMTS5	27218261	1.000000	0.71417	0.981000	0.43875	0.929000	0.56500	2.205000	0.42770	0.555000	0.29079	-0.302000	0.09304	TGC		0.478	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			24	60	1	0	6.44725e-10	0.002299	8.40143e-10	24	60				
USP16	10600	broad.mit.edu	37	21	30415863	30415863	+	Silent	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr21:30415863T>C	ENST00000334352.4	+	14	1530	c.1299T>C	c.(1297-1299)tcT>tcC	p.S433S	USP16_ENST00000399975.3_Silent_p.S432S|USP16_ENST00000399976.2_Silent_p.S433S|USP16_ENST00000535828.1_Silent_p.S62S	NM_001032410.1	NP_001027582.1			ubiquitin specific peptidase 16									p.S433S(2)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						ATATTCCTTCTGGAACAAGTA	0.333																																					Melanoma(92;625 1444 27493 34101 44971)	Melanoma(92;625 1444 27493 34101 44971)	uc002ymy.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(1)|pancreas(1)	4						c.(1297-1299)TCT>TCC		ubiquitin specific protease 16 isoform a							92.0	87.0	89.0					21																	30415863		2203	4300	6503	SO:0001819	synonymous_variant	10600				cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr21:30415863T>C	AF126736	CCDS13583.1, CCDS42912.1	21q21	2008-04-11	2005-08-08		ENSG00000156256	ENSG00000156256		"""Ubiquitin-specific peptidases"""	12614	protein-coding gene	gene with protein product		604735	"""ubiquitin specific protease 16"""			12838346	Standard	NM_006447		Approved	Ubp-M	uc002ymy.3	Q9Y5T5	OTTHUMG00000078802	ENST00000334352.4:c.1299T>C	21.37:g.30415863T>C						USP16_uc002ymx.2_Silent_p.S432S|USP16_uc002ymw.2_Silent_p.S433S|USP16_uc011acm.1_Silent_p.S418S|USP16_uc011acn.1_Silent_p.S99S|USP16_uc011aco.1_Silent_p.S123S	p.S433S	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN			13	1501	+			433						Silent	SNP	ENST00000334352.4	37	c.1299T>C	CCDS13583.1																																																																																				0.333	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171847.1			11	46	0	0	0	0.010729	0	11	46				
KRTAP10-12	386685	broad.mit.edu	37	21	46117289	46117289	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr21:46117289T>A	ENST00000400365.3	+	1	203	c.173T>A	c.(172-174)gTa>gAa	p.V58E	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	58	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.V58E(2)		large_intestine(1)|lung(8)	9						GTGAGCCGTGTATCCAGCCCC	0.692																																							uc002zfw.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(172-174)GTA>GAA		keratin associated protein 10-12							59.0	70.0	66.0					21																	46117289		2188	4287	6475	SO:0001583	missense	386685					keratin filament		g.chr21:46117289T>A	AB076364	CCDS42967.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000189169	ENSG00000189169		"""Keratin associated proteins"""	20533	protein-coding gene	gene with protein product			"""keratin associated protein 18-12"""	KRTAP18-12			Standard	NM_198699		Approved	KRTAP18.12, KAP10.12	uc002zfw.1	P60413	OTTHUMG00000057629	ENST00000400365.3:c.173T>A	21.37:g.46117289T>A	ENSP00000383216:p.Val58Glu					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.V58E	NM_198699	NP_941972	P60413	KR10C_HUMAN			1	203	+			58			19 X 5 AA repeats of C-C-X(3).		B2RPA3	Missense_Mutation	SNP	ENST00000400365.3	37	c.173T>A	CCDS42967.1	.	.	.	.	.	.	.	.	.	.	N	9.300	1.052745	0.19907	.	.	ENSG00000189169	ENST00000400365	T	0.10288	2.89	2.77	-3.14	0.05250	.	.	.	.	.	T	0.04497	0.0123	N	0.22421	0.69	0.09310	N	0.99999	B	0.14012	0.009	B	0.09377	0.004	T	0.44559	-0.9320	9	0.02654	T	1	.	4.0085	0.09611	0.3144:0.0:0.1785:0.507	.	58	P60413	KR10C_HUMAN	E	58	ENSP00000383216:V58E	ENSP00000383216:V58E	V	+	2	0	KRTAP10-12	44941717	0.000000	0.05858	0.038000	0.18304	0.350000	0.29205	-1.801000	0.01743	-0.983000	0.03511	0.248000	0.18094	GTA		0.692	KRTAP10-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128032.1	NM_198699		26	149	0	0	0	0.003954	0	26	149				
CCT8L2	150160	broad.mit.edu	37	22	17072820	17072820	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr22:17072820C>G	ENST00000359963.3	-	1	880	c.621G>C	c.(619-621)gcG>gcC	p.A207A		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	207					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)	p.A207A(2)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCCCGGGCAGCGCGCACACCC	0.617																																							uc002zlp.1		NA																	2	Substitution - coding silent(2)	p.A207V(1)	lung(2)	ovary(1)	1						c.(619-621)GCG>GCC		T-complex protein 1							63.0	63.0	63.0					22																	17072820		2203	4300	6503	SO:0001819	synonymous_variant	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072820C>G	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.621G>C	22.37:g.17072820C>G							p.A207A	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			1	881	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	207					A4QPH3|Q9UJS3	Silent	SNP	ENST00000359963.3	37	c.621G>C	CCDS13738.1																																																																																				0.617	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			20	116	0	0	0	0.001882	0	20	116				
CECR5	27440	broad.mit.edu	37	22	17630516	17630516	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr22:17630516C>G	ENST00000336737.4	-	2	271	c.246G>C	c.(244-246)cgG>cgC	p.R82R	CECR5_ENST00000399852.3_Intron|CECR5_ENST00000155674.5_Silent_p.R52R|CECR5_ENST00000480451.1_5'UTR	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	82						mitochondrion (GO:0005739)		p.R82R(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				CCACGGGCACCCGCAGCTGCC	0.587																																							uc002zmf.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(244-246)CGG>CGC		cat eye syndrome chromosome region, candidate 5							79.0	83.0	82.0					22																	17630516		2203	4300	6503	SO:0001819	synonymous_variant	27440						hydrolase activity	g.chr22:17630516C>G	AF273270	CCDS13741.1, CCDS33595.1	22q11.2	2008-06-12			ENSG00000069998	ENSG00000069998			1843	protein-coding gene	gene with protein product						11381032	Standard	NM_017829		Approved		uc002zmf.3	Q9BXW7	OTTHUMG00000150071	ENST00000336737.4:c.246G>C	22.37:g.17630516C>G						CECR5_uc002zme.2_5'Flank|CECR5_uc002zmg.2_Intron|CECR5_uc002zmh.2_Silent_p.R52R	p.R82R	NM_033070	NP_149061	Q9BXW7	CECR5_HUMAN			2	274	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	82					B2RCK5|Q9BXW8|Q9NWA8|Q9NX41	Silent	SNP	ENST00000336737.4	37	c.246G>C	CCDS33595.1																																																																																				0.587	CECR5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316100.1	NM_017829		90	185	0	0	0	0.00361	0	90	185				
IL2RB	3560	broad.mit.edu	37	22	37533689	37533689	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr22:37533689G>T	ENST00000216223.5	-	6	673	c.475C>A	c.(475-477)Cac>Aac	p.H159N	AL022314.1_ENST00000516333.1_RNA	NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	159	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)	p.H159N(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TCAAAGTAGTGGGAGGCTTGG	0.587																																							uc003aqv.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(475-477)CAC>AAC		interleukin 2 receptor beta precursor	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						116.0	99.0	105.0					22																	37533689		2203	4300	6503	SO:0001583	missense	3560				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	g.chr22:37533689G>T	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.475C>A	22.37:g.37533689G>T	ENSP00000216223:p.His159Asn						p.H159N	NM_000878	NP_000869	P14784	IL2RB_HUMAN			6	606	-			159			Extracellular (Potential).|Fibronectin type-III.		B2R765	Missense_Mutation	SNP	ENST00000216223.5	37	c.475C>A	CCDS13942.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502389	0.44455	.	.	ENSG00000100385	ENST00000216223;ENST00000453962	D;T	0.96011	-3.88;0.82	4.86	4.86	0.63082	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.074817	0.53938	D	0.000060	D	0.97012	0.9024	M	0.70275	2.135	0.42947	D	0.994361	D	0.89917	1.0	D	0.87578	0.998	D	0.96263	0.9192	10	0.29301	T	0.29	-30.6798	14.6853	0.69044	0.0:0.0:1.0:0.0	.	159	P14784	IL2RB_HUMAN	N	159	ENSP00000216223:H159N;ENSP00000403731:H159N	ENSP00000216223:H159N	H	-	1	0	IL2RB	35863635	1.000000	0.71417	0.998000	0.56505	0.032000	0.12392	4.085000	0.57657	2.224000	0.72417	0.462000	0.41574	CAC		0.587	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1			27	115	1	0	1.42536e-11	0.004656	1.94561e-11	27	115				
SH3BP1	23616	broad.mit.edu	37	22	38040934	38040934	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr22:38040934C>A	ENST00000357436.4	+	9	1058	c.745C>A	c.(745-747)Ctg>Atg	p.L249M	SH3BP1_ENST00000442465.2_Missense_Mutation_p.L249M|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000599616.1_Missense_Mutation_p.L185M|SH3BP1_ENST00000336738.5_Missense_Mutation_p.L249M|Z83844.1_ENST00000456099.1_RNA	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	249	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GGACACAGCCCTGGCTGAGCT	0.627																																							uc003ati.2		NA																	0				central_nervous_system(1)	1						c.(745-747)CTG>ATG		SH3-domain binding protein 1							52.0	43.0	46.0					22																	38040934		2203	4300	6503	SO:0001583	missense	23616				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	g.chr22:38040934C>A		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"""Rho GTPase activating proteins"""	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.745C>A	22.37:g.38040934C>A	ENSP00000350018:p.Leu249Met					SH3BP1_uc003atg.1_RNA|SH3BP1_uc011anl.1_Missense_Mutation_p.L249M|SH3BP1_uc003ath.1_Missense_Mutation_p.L249M|SH3BP1_uc003atj.1_Missense_Mutation_p.L185M|SH3BP1_uc003atk.1_Missense_Mutation_p.L163M|uc003atl.1_Intron	p.L249M	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN			9	856	+	Melanoma(58;0.0574)		249			BAR.		Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Missense_Mutation	SNP	ENST00000357436.4	37	c.745C>A	CCDS13952.2	.	.	.	.	.	.	.	.	.	.	C	17.50	3.406319	0.62288	.	.	ENSG00000100092	ENST00000357436;ENST00000336738;ENST00000442465;ENST00000397014	T;T;T	0.63913	-0.07;-0.07;-0.07	5.05	2.92	0.33932	BAR (2);	0.000000	0.48286	D	0.000200	T	0.73583	0.3605	M	0.69523	2.12	0.35463	D	0.796652	D;D;D;D;D	0.89917	0.982;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.915;0.997;0.989;0.996;0.997	T	0.78700	-0.2102	10	0.54805	T	0.06	.	8.1215	0.30974	0.1302:0.7235:0.0:0.1463	.	249;163;185;249;163	F5GZA8;E7EUD3;Q6ZT62;Q9Y3L3;Q6ZTJ5	.;.;.;3BP1_HUMAN;.	M	249;249;249;163	ENSP00000350018:L249M;ENSP00000337213:L249M;ENSP00000395126:L249M	ENSP00000337213:L249M	L	+	1	2	SH3BP1	36370880	0.237000	0.23815	1.000000	0.80357	0.668000	0.39293	0.235000	0.17948	1.284000	0.44531	0.491000	0.48974	CTG		0.627	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957		6	51	1	0	0.00307968	0.00308	0.00326506	6	51				
A4GALT	53947	broad.mit.edu	37	22	43089605	43089605	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr22:43089605G>A	ENST00000401850.1	-	2	842	c.353C>T	c.(352-354)cCg>cTg	p.P118L	A4GALT_ENST00000249005.2_Missense_Mutation_p.P118L|A4GALT_ENST00000381278.3_Missense_Mutation_p.P118L|A4GALT_ENST00000465765.2_5'Flank			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	118					globoside biosynthetic process (GO:0001576)|glycosphingolipid biosynthetic process (GO:0006688)|plasma membrane organization (GO:0007009)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	galactosyltransferase activity (GO:0008378)|lactosylceramide 4-alpha-galactosyltransferase activity (GO:0050512)|toxic substance binding (GO:0015643)			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						GTTGCCACCCGGAAGCCCTTT	0.632																																							uc003bdb.2		NA																	0				central_nervous_system(2)	2						c.(352-354)CCG>CTG		alpha 1,4-galactosyltransferase							86.0	95.0	92.0					22																	43089605		2203	4300	6503	SO:0001583	missense	53947				glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity	g.chr22:43089605G>A		CCDS14041.1	22q13.2	2014-07-18	2008-07-31		ENSG00000128274	ENSG00000128274	2.4.1.228		18149	protein-coding gene	gene with protein product	"""Gb3 synthase"", ""CD77 synthase"", ""globotriaosylceramide synthase"", ""lactosylceramide 4-alpha-galactosyltransferase"""	607922	"""alpha 1,4-galactosyltransferase (globotriaosylceramide synthase, P blood group)"""			10854428	Standard	XM_005261643		Approved	A14GALT, Gb3S, P(k)	uc003bdb.3	Q9NPC4	OTTHUMG00000150744	ENST00000401850.1:c.353C>T	22.37:g.43089605G>A	ENSP00000384794:p.Pro118Leu					A4GALT_uc010gzd.2_Missense_Mutation_p.P118L	p.P118L	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN			3	614	-			118			Lumenal (Potential).		B2R7C4|Q9P1X5	Missense_Mutation	SNP	ENST00000401850.1	37	c.353C>T	CCDS14041.1	.	.	.	.	.	.	.	.	.	.	G	4.414	0.076472	0.08485	.	.	ENSG00000128274	ENST00000401850;ENST00000249005;ENST00000381278;ENST00000535654	T;T;T	0.80123	-1.34;-1.34;-1.34	5.29	0.372	0.16173	Glycosyltransferase, DXD sugar-binding motif (1);	0.667620	0.12983	N	0.423097	T	0.69088	0.3072	L	0.59436	1.845	0.38423	D	0.946222	B	0.11235	0.004	B	0.08055	0.003	T	0.56601	-0.7952	10	0.14656	T	0.56	-19.27	3.0853	0.06276	0.2097:0.1221:0.543:0.1252	.	118	Q9NPC4	A4GAT_HUMAN	L	118	ENSP00000384794:P118L;ENSP00000249005:P118L;ENSP00000370678:P118L	ENSP00000249005:P118L	P	-	2	0	A4GALT	41419549	0.000000	0.05858	0.590000	0.28732	0.246000	0.25737	-0.623000	0.05546	0.597000	0.29811	0.561000	0.74099	CCG		0.632	A4GALT-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319917.1	NM_017436		5	223	0	0	0	0.00308	0	5	223				
PARVG	64098	broad.mit.edu	37	22	44581730	44581730	+	Missense_Mutation	SNP	C	C	A	rs572789479	byFrequency	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr22:44581730C>A	ENST00000444313.3	+	4	606	c.122C>A	c.(121-123)cCc>cAc	p.P41H	PARVG_ENST00000415224.1_Missense_Mutation_p.P41H|PARVG_ENST00000422871.1_Missense_Mutation_p.P41H|PARVG_ENST00000453888.3_3'UTR	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	41					actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)	p.P41H(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				CGGAAGGACCCCAAATTTGAA	0.612													C|||	2	0.000399361	0.0	0.0	5008	,	,		16289	0.0		0.0	False		,,,				2504	0.002						uc011aqe.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(121-123)CCC>CAC		parvin, gamma							73.0	59.0	64.0					22																	44581730		2203	4300	6503	SO:0001583	missense	64098				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr22:44581730C>A	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"""Parvins"""	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.122C>A	22.37:g.44581730C>A	ENSP00000391583:p.Pro41His					PARVG_uc010gzo.2_Missense_Mutation_p.P108H|PARVG_uc010gzp.2_RNA|PARVG_uc003bep.2_Missense_Mutation_p.P41H|PARVG_uc010gzq.1_RNA|PARVG_uc010gzr.1_RNA|PARVG_uc011aqf.1_Missense_Mutation_p.P41H|PARVG_uc003beq.2_RNA|PARVG_uc003ber.2_RNA	p.P41H	NM_001137605	NP_001131077	Q9HBI0	PARVG_HUMAN			4	546	+		Ovarian(80;0.024)|all_neural(38;0.0299)	41					B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Missense_Mutation	SNP	ENST00000444313.3	37	c.122C>A	CCDS14057.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419048	0.62622	.	.	ENSG00000138964	ENST00000422871;ENST00000453888;ENST00000444313;ENST00000415224	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	4.79	3.75	0.43078	Calponin homology domain (1);	0.000000	0.64402	D	0.000001	T	0.65595	0.2706	M	0.82823	2.61	0.53005	D	0.999968	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.969	T	0.70554	-0.4840	10	0.87932	D	0	-1.0878	12.6024	0.56504	0.0:0.8314:0.1685:0.0	.	108;41	B4DDW5;Q9HBI0	.;PARVG_HUMAN	H	41;108;41;41	ENSP00000391453:P41H;ENSP00000416104:P108H;ENSP00000391583:P41H;ENSP00000416761:P41H	ENSP00000349378:P41H	P	+	2	0	PARVG	42913063	1.000000	0.71417	0.825000	0.32803	0.851000	0.48451	4.761000	0.62243	0.958000	0.37956	0.655000	0.94253	CCC		0.612	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141		8	31	1	0	0.000157383	0.00308	0.000171863	8	31				
PLXNB2	23654	broad.mit.edu	37	22	50719028	50719028	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr22:50719028C>A	ENST00000449103.1	-	25	4205	c.4065G>T	c.(4063-4065)acG>acT	p.T1355T	PLXNB2_ENST00000359337.4_Silent_p.T1355T|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	1355					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)	p.T1398T(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCAGCGCCACCGTCAGCAGGG	0.627																																							uc003bkv.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4063-4065)ACG>ACT		plexin B2 precursor							76.0	83.0	81.0					22																	50719028		2183	4274	6457	SO:0001819	synonymous_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50719028C>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4065G>T	22.37:g.50719028C>A						PLXNB2_uc003bkt.1_Silent_p.T147T|PLXNB2_uc003bku.1_Silent_p.T340T	p.T1355T	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	25	4171	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1355			Cytoplasmic (Potential).		A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	c.4065G>T	CCDS43035.1																																																																																				0.627	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		11	91	1	0	4.68919e-08	0.008291	5.77945e-08	11	91				
SBF1	6305	broad.mit.edu	37	22	50900255	50900255	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr22:50900255C>A	ENST00000390679.3	-	21	2797	c.2613G>T	c.(2611-2613)cgG>cgT	p.R871R	SBF1_ENST00000348911.6_Silent_p.R872R|SBF1_ENST00000380817.3_Silent_p.R871R			O95248	MTMR5_HUMAN	SET binding factor 1	871					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R871R(4)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TCCGGCTCTCCCGCTGCACGG	0.647																																							uc003blh.2		NA																	4	Substitution - coding silent(4)		lung(4)		0						c.(2611-2613)CGG>CGT		SET binding factor 1							35.0	42.0	40.0					22																	50900255		1971	4133	6104	SO:0001819	synonymous_variant	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50900255C>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.2613G>T	22.37:g.50900255C>A						SBF1_uc011arx.1_Silent_p.R535R|SBF1_uc003bli.2_Silent_p.R872R	p.R871R	NM_002972	NP_002963	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	21	2808	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	871					A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Silent	SNP	ENST00000390679.3	37	c.2613G>T																																																																																					0.647	SBF1-201	KNOWN	basic	protein_coding	protein_coding				27	70	1	0	1.74807e-11	0.010818	2.37424e-11	27	70				
ATP2B2	491	broad.mit.edu	37	3	10420009	10420009	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:10420009G>A	ENST00000352432.4	-	9	1197	c.1128C>T	c.(1126-1128)gcC>gcT	p.A376A	ATP2B2_ENST00000343816.4_Silent_p.A362A|ATP2B2_ENST00000360273.2_Silent_p.A376A|ATP2B2_ENST00000383800.4_Silent_p.A331A|ATP2B2_ENST00000397077.1_Silent_p.A331A			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	376					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.A376A(2)|p.A331A(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGTGCATGCTGGCCTTCTTCC	0.647																																					Ovarian(125;1619 1709 15675 19819 38835)	Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1126-1128)GCC>GCT		plasma membrane calcium ATPase 2 isoform 1							97.0	88.0	91.0					3																	10420009		2203	4300	6503	SO:0001819	synonymous_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10420009G>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1128C>T	3.37:g.10420009G>A						ATP2B2_uc003bvv.2_Silent_p.A331A|ATP2B2_uc003bvw.2_Silent_p.A331A|ATP2B2_uc010hdo.2_Silent_p.A81A	p.A376A	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			10	1567	-			376			Cytoplasmic (Potential).		O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	c.1128C>T	CCDS33701.1																																																																																				0.647	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		27	145	0	0	0	0.004656	0	27	145				
TMEM40	55287	broad.mit.edu	37	3	12777053	12777053	+	Splice_Site	SNP	C	C	T	rs543170119		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:12777053C>T	ENST00000314124.7	-	11	1039		c.e11+1		TMEM40_ENST00000435218.2_Splice_Site|TMEM40_ENST00000264728.8_Splice_Site|TMEM40_ENST00000435575.1_Splice_Site|TMEM40_ENST00000476331.1_Splice_Site|TMEM40_ENST00000431022.2_Splice_Site	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40							integral component of membrane (GO:0016021)		p.?(2)		breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TTAAAAGTTACCTGTCAGCCT	0.448													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21370	0.0		0.0	False		,,,				2504	0.0						uc003bxg.1		NA																	2	Unknown(2)		lung(2)		0						c.e11+1		transmembrane protein 40							102.0	101.0	101.0					3																	12777053		2203	4300	6503	SO:0001630	splice_region_variant	55287					integral to membrane		g.chr3:12777053C>T	BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.682+1G>A	3.37:g.12777053C>T						TMEM40_uc003bxh.1_Splice_Site_p.G198_splice|TMEM40_uc003bxi.1_Splice_Site_p.G152_splice|TMEM40_uc011auv.1_Splice_Site_p.G244_splice	p.G228_splice	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN			11	809	-								C9JID5|Q8NAL4|Q9NUZ4	Splice_Site	SNP	ENST00000314124.7	37	c.682_splice	CCDS2613.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893009	0.52121	.	.	ENSG00000088726	ENST00000314124;ENST00000435575;ENST00000435218;ENST00000428020;ENST00000264728;ENST00000431022	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1458	0.72650	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM40	12752053	1.000000	0.71417	0.992000	0.48379	0.518000	0.34316	3.938000	0.56583	2.620000	0.88729	0.655000	0.94253	.		0.448	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252029.2	NM_018306	Intron	21	109	0	0	0	0.00278	0	21	109				
FBLN2	2199	broad.mit.edu	37	3	13679148	13679148	+	Missense_Mutation	SNP	C	C	T	rs200284680		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:13679148C>T	ENST00000295760.7	+	17	3353	c.3284C>T	c.(3283-3285)aCg>aTg	p.T1095M	FBLN2_ENST00000535798.1_Missense_Mutation_p.T1121M|FBLN2_ENST00000404922.3_Missense_Mutation_p.T1142M|FBLN2_ENST00000492059.1_Missense_Mutation_p.T1142M	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	1095	Domain III.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)	p.T561M(2)|p.T1142M(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AACTTCCAGACGGGCCTCCTG	0.627																																							uc011avb.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(3283-3285)ACG>ATG		fibulin 2 isoform b precursor		C	MET/THR,MET/THR,MET/THR	3,4349		0,3,2173	45.0	50.0	48.0		3425,3425,3284	4.7	0.9	3		48	0,8542		0,0,4271	yes	missense,missense,missense	FBLN2	NM_001004019.1,NM_001165035.1,NM_001998.2	81,81,81	0,3,6444	TT,TC,CC		0.0,0.0689,0.0233	probably-damaging,probably-damaging,probably-damaging	1142/1232,1142/1232,1095/1185	13679148	3,12891	2176	4271	6447	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13679148C>T	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.3284C>T	3.37:g.13679148C>T	ENSP00000295760:p.Thr1095Met					FBLN2_uc011auz.1_Missense_Mutation_p.T1121M|FBLN2_uc011ava.1_Missense_Mutation_p.T1142M|FBLN2_uc011avc.1_Missense_Mutation_p.T1142M	p.T1095M	NM_001998	NP_001989	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		17	3409	+			1095			Domain III.		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.3284C>T	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062645	0.55432	6.89E-4	0.0	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	T;T;T;T	0.80033	-1.33;-1.31;-1.24;-1.31	4.73	4.73	0.59995	.	0.057942	0.64402	D	0.000002	D	0.90717	0.7087	M	0.85373	2.75	0.46725	D	0.999177	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.98;0.998;0.999	D	0.92207	0.5773	10	0.72032	D	0.01	.	17.9076	0.88923	0.0:1.0:0.0:0.0	.	1095;1142;1121	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	M	1121;1142;1095;1142	ENSP00000445705:T1121M;ENSP00000384169:T1142M;ENSP00000295760:T1095M;ENSP00000420042:T1142M	ENSP00000295760:T1095M	T	+	2	0	FBLN2	13654149	1.000000	0.71417	0.936000	0.37596	0.247000	0.25773	4.622000	0.61240	2.456000	0.83038	0.563000	0.77884	ACG		0.627	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		13	41	0	0	0	0.001368	0	13	41				
CHCHD4	131474	broad.mit.edu	37	3	14154566	14154566	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:14154566C>T	ENST00000396914.3	-	3	431	c.250G>A	c.(250-252)Ggg>Agg	p.G84R	CHCHD4_ENST00000295767.5_Missense_Mutation_p.G97R	NM_001098502.1	NP_001091972.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	84	CHCH.				'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein import into mitochondrial intermembrane space (GO:0045041)|protein maturation by protein folding (GO:0022417)|protein targeting to mitochondrion (GO:0006626)	mitochondrial intermembrane space (GO:0005758)	protein disulfide oxidoreductase activity (GO:0015035)	p.G97R(2)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						CAGTCTGACCCCTTGATCTCC	0.537																																							uc003byj.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(250-252)GGG>AGG		coiled-coil-helix-coiled-coil-helix domain							92.0	87.0	89.0					3																	14154566		2203	4300	6503	SO:0001583	missense	131474				protein transport|transmembrane transport	mitochondrial intermembrane space		g.chr3:14154566C>T	BC017082	CCDS2617.1, CCDS43054.1	3p25.1	2012-10-15			ENSG00000163528	ENSG00000163528		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	26467	protein-coding gene	gene with protein product	"""translocase of inner mitochondrial membrane 40 homolog (S. cerevisiae)"", ""mitochondrial intermembrane space import and assembly 40 homolog (S. cerevisiae)"""	611077				22214851	Standard	NM_001098502		Approved	FLJ31709, TIMM40, MIA40	uc003byj.4	Q8N4Q1	OTTHUMG00000129805	ENST00000396914.3:c.250G>A	3.37:g.14154566C>T	ENSP00000380122:p.Gly84Arg					CHCHD4_uc003byi.3_Missense_Mutation_p.G97R	p.G84R	NM_001098502	NP_001091972	Q8N4Q1	MIA40_HUMAN			3	445	-			84			CHCH.		A8K3Z9|Q96AI2|Q96MY6	Missense_Mutation	SNP	ENST00000396914.3	37	c.250G>A	CCDS43054.1	.	.	.	.	.	.	.	.	.	.	C	35	5.464116	0.96257	.	.	ENSG00000163528	ENST00000295767;ENST00000396914	T;T	0.77489	-1.1;-1.1	5.61	5.61	0.85477	CHCH (1);	0.000000	0.85682	D	0.000000	D	0.91382	0.7281	M	0.92784	3.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92913	0.6349	10	0.87932	D	0	-34.5809	19.6398	0.95753	0.0:1.0:0.0:0.0	.	84;97	Q8N4Q1;Q8N4Q1-2	MIA40_HUMAN;.	R	97;84	ENSP00000295767:G97R;ENSP00000380122:G84R	ENSP00000295767:G97R	G	-	1	0	CHCHD4	14129567	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.646000	0.83445	2.641000	0.89580	0.591000	0.81541	GGG		0.537	CHCHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340423.1	NM_144636		14	82	0	0	0	0.00245	0	14	82				
NEK10	152110	broad.mit.edu	37	3	27329206	27329206	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:27329206T>A	ENST00000429845.2	-	21	2134	c.1772A>T	c.(1771-1773)tAc>tTc	p.Y591F	NEK10_ENST00000357467.2_5'UTR|NEK10_ENST00000341435.5_Missense_Mutation_p.Y591F			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	591	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Y591F(3)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAATGTTTTGTAATAACGTAC	0.264																																							uc003cdt.1		NA																	3	Substitution - Missense(3)		lung(3)	ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						c.(1771-1773)TAC>TTC		NIMA-related kinase 10 isoform 3							82.0	81.0	81.0					3																	27329206		1565	3575	5140	SO:0001583	missense	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27329206T>A	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.1772A>T	3.37:g.27329206T>A	ENSP00000395849:p.Tyr591Phe					NEK10_uc003cds.1_5'UTR	p.Y591F	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN			21	2046	-			591			Protein kinase.		A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37	c.1772A>T		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	11.12|11.12|11.12	1.545469|1.545469|1.545469	0.27652|0.27652|0.27652	.|.|.	.|.|.	ENSG00000163491|ENSG00000163491|ENSG00000163491	ENST00000435584|ENST00000424275|ENST00000341435;ENST00000396636	.|.|T	.|.|0.42900	.|.|0.96	5.5|5.5|5.5	5.5|5.5|5.5	0.81552|0.81552|0.81552	.|.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|.|0.197152	.|.|0.45126	.|.|D	.|.|0.000396	T|T|T	0.34164|0.34164|0.34164	0.0888|0.0888|0.0888	L|L|L	0.37630|0.37630|0.37630	1.12|1.12|1.12	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|B	.|.|0.22080	.|.|0.064	.|.|B	.|.|0.17722	.|.|0.019	T|T|T	0.09122|0.09122|0.09122	-1.0689|-1.0689|-1.0689	5|5|10	.|.|0.26408	.|.|T	.|.|0.33	.|.|.	14.5867|14.5867|14.5867	0.68331|0.68331|0.68331	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	.|.|591	.|.|Q6ZWH5	.|.|NEK10_HUMAN	F|S|F	47|78|591	.|.|ENSP00000343847:Y591F	.|.|ENSP00000343847:Y591F	L|T|Y	-|-|-	3|1|2	2|0|0	NEK10|NEK10|NEK10	27304210|27304210|27304210	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.986000|0.986000|0.986000	0.74619|0.74619|0.74619	3.985000|3.985000|3.985000	0.56930|0.56930|0.56930	2.081000|2.081000|2.081000	0.62600|0.62600|0.62600	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	TTA|ACA|TAC		0.264	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		4	40	0	0	0	0.001168	0	4	40				
AZI2	64343	broad.mit.edu	37	3	28381959	28381959	+	Silent	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:28381959T>C	ENST00000479665.1	-	2	681	c.150A>G	c.(148-150)aaA>aaG	p.K50K	AZI2_ENST00000420543.2_Silent_p.K50K|AZI2_ENST00000457172.1_Silent_p.K50K|AZI2_ENST00000295748.3_5'UTR|AZI2_ENST00000334100.6_Silent_p.K50K	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	50	Homodimerization. {ECO:0000250}.				dendritic cell differentiation (GO:0097028)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-alpha production (GO:0032607)|interferon-gamma production (GO:0032609)|interleukin-6 production (GO:0032635)|mitotic cell cycle (GO:0000278)|T cell activation (GO:0042110)|tumor necrosis factor production (GO:0032640)	cytoplasm (GO:0005737)		p.K50K(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						CCTTAAGTCGTTTTTTGATGT	0.343																																							uc003ceb.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(148-150)AAA>AAG		5-azacytidine induced 2 isoform a							80.0	79.0	79.0					3																	28381959		2202	4299	6501	SO:0001819	synonymous_variant	64343					mitochondrion|plasma membrane		g.chr3:28381959T>C	AC093142	CCDS2647.1, CCDS46782.1, CCDS46783.1	3p23	2006-03-01			ENSG00000163512	ENSG00000163512			24002	protein-coding gene	gene with protein product		609916				10580148	Standard	NM_001134432		Approved	NAP1, FLJ21939, AZ2	uc003ceb.4	Q9H6S1	OTTHUMG00000130573	ENST00000479665.1:c.150A>G	3.37:g.28381959T>C						AZI2_uc003cec.2_5'UTR|AZI2_uc003ced.2_Silent_p.K50K|AZI2_uc003cee.3_Silent_p.K50K|AZI2_uc003ceg.2_Silent_p.K50K|AZI2_uc011axd.1_Silent_p.K50K|AZI2_uc003cef.2_Silent_p.K50K	p.K50K	NM_022461	NP_071906	Q9H6S1	AZI2_HUMAN			2	682	-			50			Potential.		A8K3M2|C9JB40|H7BXU6|Q86W99|Q9BQF1	Silent	SNP	ENST00000479665.1	37	c.150A>G	CCDS2647.1																																																																																				0.343	AZI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252998.2	NM_203326		29	59	0	0	0	0.005443	0	29	59				
VILL	50853	broad.mit.edu	37	3	38040837	38040837	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:38040837G>T	ENST00000283713.6	+	11	1355	c.1089G>T	c.(1087-1089)tcG>tcT	p.S363S	VILL_ENST00000465644.1_Silent_p.S81S|VILL_ENST00000383759.2_Silent_p.S363S			O15195	VILL_HUMAN	villin-like	363					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)	p.S363S(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CAGATAAATCGATTCATGTAA	0.617																																							uc003chj.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1087-1089)TCG>TCT		villin-like protein							75.0	67.0	70.0					3																	38040837		2203	4300	6503	SO:0001819	synonymous_variant	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38040837G>T		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.1089G>T	3.37:g.38040837G>T						VILL_uc003chl.2_Silent_p.S363S|VILL_uc010hgu.2_Silent_p.S193S	p.S363S	NM_015873	NP_056957	O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	11	1375	+			363					A8MZP1|Q9BT80|Q9BWH7	Silent	SNP	ENST00000283713.6	37	c.1089G>T	CCDS2670.2																																																																																				0.617	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		12	60	1	0	0.000151284	0.001855	0.000165534	12	60				
SCN5A	6331	broad.mit.edu	37	3	38622447	38622447	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:38622447C>A	ENST00000333535.4	-	17	3352	c.3203G>T	c.(3202-3204)gGc>gTc	p.G1068V	SCN5A_ENST00000423572.2_Missense_Mutation_p.G1068V|SCN5A_ENST00000451551.2_Missense_Mutation_p.G1068V|SCN5A_ENST00000414099.2_Missense_Mutation_p.G1068V|SCN5A_ENST00000443581.1_Missense_Mutation_p.G1068V|SCN5A_ENST00000450102.2_Missense_Mutation_p.G1068V|SCN5A_ENST00000425664.1_Missense_Mutation_p.G1068V|SCN5A_ENST00000413689.1_Missense_Mutation_p.G1068V|SCN5A_ENST00000449557.2_Missense_Mutation_p.G1068V|SCN5A_ENST00000455624.2_Missense_Mutation_p.G1068V			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1068					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.G1068V(4)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CTCCTCCGTGCCCAGGCTGTT	0.632																																							uc003cio.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9						c.(3202-3204)GGC>GTC		voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						38.0	40.0	39.0					3																	38622447		2152	4255	6407	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38622447C>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.3203G>T	3.37:g.38622447C>A	ENSP00000328968:p.Gly1068Val					SCN5A_uc003cin.2_Missense_Mutation_p.G1068V|SCN5A_uc003cil.3_Missense_Mutation_p.G1068V|SCN5A_uc010hhi.2_Missense_Mutation_p.G1068V|SCN5A_uc010hhk.2_Missense_Mutation_p.G1068V|SCN5A_uc011ayr.1_Missense_Mutation_p.G1068V|SCN5A_uc010hhj.1_Missense_Mutation_p.G679V	p.G1068V	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	17	3397	-	Medulloblastoma(35;0.163)		1068					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.3203G>T	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	5.756	0.323834	0.10900	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.12	2.33	0.28932	Sodium ion transport-associated (1);	0.596945	0.15799	N	0.244027	T	0.73257	0.3564	L	0.38175	1.15	0.19575	N	0.999962	B;B;B;B;B;B;B	0.21381	0.006;0.002;0.045;0.055;0.012;0.029;0.05	B;B;B;B;B;B;B	0.29176	0.063;0.009;0.031;0.037;0.055;0.03;0.099	T	0.59925	-0.7362	10	0.34782	T	0.22	.	5.5377	0.17021	0.1401:0.5574:0.0:0.3025	.	1068;1068;1068;1068;1068;1068;1068	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	V	1068	ENSP00000398962:G1068V;ENSP00000398266:G1068V;ENSP00000410257:G1068V;ENSP00000388797:G1068V;ENSP00000397915:G1068V;ENSP00000416634:G1068V;ENSP00000328968:G1068V;ENSP00000399524:G1068V;ENSP00000403355:G1068V;ENSP00000413996:G1068V	ENSP00000328968:G1068V	G	-	2	0	SCN5A	38597451	0.000000	0.05858	0.110000	0.21437	0.373000	0.29922	0.454000	0.21827	0.203000	0.20529	-1.134000	0.01955	GGC		0.632	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		10	35	1	0	3.86212e-05	0.008291	4.29474e-05	10	35				
ZNF621	285268	broad.mit.edu	37	3	40573808	40573808	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:40573808G>C	ENST00000339296.5	+	5	999	c.547G>C	c.(547-549)Gag>Cag	p.E183Q	ZNF621_ENST00000403205.2_Missense_Mutation_p.E183Q|ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000431278.1_Missense_Mutation_p.E72Q|ZNF621_ENST00000490457.1_Intron	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	183					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E183Q(2)		endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		TAAGTGTAAGGAGTGTGGCAA	0.403																																							uc003ckm.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(547-549)GAG>CAG		zinc finger protein 621							94.0	89.0	91.0					3																	40573808		2203	4300	6503	SO:0001583	missense	285268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:40573808G>C	AK127181	CCDS2693.1, CCDS74920.1	3p21.33	2013-01-08			ENSG00000172888	ENSG00000172888		"""Zinc fingers, C2H2-type"", ""-"""	24787	protein-coding gene	gene with protein product							Standard	XM_005265079		Approved	FLJ45246	uc003ckm.2	Q6ZSS3	OTTHUMG00000131389	ENST00000339296.5:c.547G>C	3.37:g.40573808G>C	ENSP00000340841:p.Glu183Gln					ZNF621_uc003ckn.2_Missense_Mutation_p.E183Q|ZNF621_uc003cko.2_Missense_Mutation_p.E148Q|ZNF621_uc011aze.1_Missense_Mutation_p.E175Q	p.E183Q	NM_001098414	NP_001091884	Q6ZSS3	ZN621_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)	5	763	+			183			C2H2-type 2.		Q14DC7|Q8TE91	Missense_Mutation	SNP	ENST00000339296.5	37	c.547G>C	CCDS2693.1	.	.	.	.	.	.	.	.	.	.	g	11.70	1.716059	0.30413	.	.	ENSG00000172888	ENST00000403205;ENST00000339296;ENST00000431278	T;T;T	0.18502	2.21;2.21;2.21	4.07	3.16	0.36331	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.168842	0.28312	N	0.015816	T	0.11110	0.0271	N	0.05619	-0.005	0.80722	D	1	B;P	0.41313	0.011;0.745	B;P	0.47376	0.008;0.545	T	0.12993	-1.0526	10	0.09084	T	0.74	.	11.846	0.52385	0.0:0.1789:0.821:0.0	.	72;183	C9JZC2;Q6ZSS3	.;ZN621_HUMAN	Q	183;183;72	ENSP00000386051:E183Q;ENSP00000340841:E183Q;ENSP00000413236:E72Q	ENSP00000340841:E183Q	E	+	1	0	ZNF621	40548812	0.000000	0.05858	0.999000	0.59377	0.708000	0.40852	0.197000	0.17197	1.258000	0.44101	0.655000	0.94253	GAG		0.403	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254178.2	NM_198484		35	64	0	0	0	0.003755	0	35	64				
LTF	4057	broad.mit.edu	37	3	46496816	46496817	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:46496816_46496817CC>AA	ENST00000231751.4	-	5	910_911	c.615_616GG>TT	c.(613-618)caGGaa>caTTaa	p.205_206QE>H*	LTF_ENST00000417439.1_Nonsense_Mutation_p.205_206QE>H*|LTF_ENST00000426532.2_Nonsense_Mutation_p.161_162QE>H*	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	205	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)	p.Q205_E206>H*(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		AAGTACGGTTCCTGGGAGGAGA	0.579																																							uc003cpq.2		NA																	2	Complex - compound substitution(2)		lung(2)	central_nervous_system(2)|ovary(1)|lung(1)	4						c.(613-618)CAGGAA>CATTAA		lactotransferrin precursor	Pefloxacin(DB00487)																																			SO:0001587	stop_gained	4057				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	g.chr3:46496816_46496817CC>AA		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.615_616delinsAA	3.37:g.46496816_46496817delinsAA	ENSP00000231751:p.Q205_E206delinsH*					LTF_uc003fzr.2_Nonsense_Mutation_p.161_162QE>H*|LTF_uc010hjh.2_Nonsense_Mutation_p.205_206QE>H*|LTF_uc003cpr.2_Nonsense_Mutation_p.192_193QE>H*	p.205_206QE>H*	NM_002343	NP_002334	P02788	TRFL_HUMAN		all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	5	653_654	-			205_206			Transferrin-like 1.		A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Nonsense_Mutation	DNP	ENST00000231751.4	37	c.615_616GG>TT	CCDS33747.1																																																																																				0.579	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343		15	88	0	0	0	0.004672	0	15	88				
COL7A1	1294	broad.mit.edu	37	3	48618353	48618353	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:48618353G>T	ENST00000328333.8	-	53	5049	c.4942C>A	c.(4942-4944)Ccg>Acg	p.P1648T	MIR711_ENST00000390201.1_RNA|COL7A1_ENST00000454817.1_Missense_Mutation_p.P1648T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1648	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P1648T(2)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCAAACCCGGGTCACCCTGG	0.557																																							uc003ctz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(4942-4944)CCG>ACG		alpha 1 type VII collagen precursor							57.0	48.0	51.0					3																	48618353		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48618353G>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.4942C>A	3.37:g.48618353G>T	ENSP00000332371:p.Pro1648Thr					MIR711_hsa-mir-711|MI0012488_5'Flank	p.P1648T	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	53	4943	-			1648			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.4942C>A	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.572955	0.45798	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.97710	-4.5;-4.5	5.65	3.69	0.42338	.	0.186198	0.26844	N	0.022212	D	0.95510	0.8541	L	0.52823	1.66	0.27197	N	0.960263	P	0.36909	0.573	B	0.43950	0.437	D	0.88632	0.3170	10	0.27785	T	0.31	.	3.4335	0.07437	0.0931:0.1688:0.5656:0.1725	.	1648	Q02388	CO7A1_HUMAN	T	1648	ENSP00000332371:P1648T;ENSP00000412569:P1648T	ENSP00000332371:P1648T	P	-	1	0	COL7A1	48593357	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	1.799000	0.38824	2.664000	0.90586	0.655000	0.94253	CCG		0.557	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		16	40	1	0	5.3912e-06	0.006122	6.18403e-06	16	40				
CDHR4	389118	broad.mit.edu	37	3	49836271	49836271	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:49836271G>T	ENST00000412678.2	-	4	491	c.483C>A	c.(481-483)ctC>ctA	p.L161L	CDHR4_ENST00000487256.1_Silent_p.L161L|CDHR4_ENST00000343366.4_Missense_Mutation_p.P187T	NM_001007540.2	NP_001007541.2	A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	161					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L161L(2)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						GCGCTCCGTGGAGTTCTAGGC	0.612																																							uc010hkz.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(481-483)CTC>CTA		cadherin-like 29 precursor							35.0	40.0	38.0					3																	49836271		2002	4166	6168	SO:0001819	synonymous_variant	389118				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr3:49836271G>T		CCDS46829.1	3p21.31	2011-07-01	2010-01-25	2010-01-25	ENSG00000187492	ENSG00000187492		"""Cadherins / Cadherin-related"""	34527	protein-coding gene	gene with protein product			"""cadherin-like 29"""	CDH29			Standard	NM_001007540		Approved	VLLR9392	uc010hkz.3	A6H8M9	OTTHUMG00000158198	ENST00000412678.2:c.483C>A	3.37:g.49836271G>T						CDHR4_uc003cxp.2_Missense_Mutation_p.P187T|CDHR4_uc011bcw.1_Silent_p.L161L	p.L161L	NM_001007540	NP_001007541	A6H8M9	CDHR4_HUMAN			4	492	-			161			Extracellular (Potential).		Q6UXT0	Silent	SNP	ENST00000412678.2	37	c.483C>A	CCDS46829.1	.	.	.	.	.	.	.	.	.	.	G	0.191	-1.053263	0.01965	.	.	ENSG00000187492	ENST00000343366	T	0.43688	0.94	4.13	-1.12	0.09808	.	1.746490	0.03378	N	0.199988	T	0.28400	0.0702	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.28459	-1.0043	9	0.87932	D	0	0.0116	0.5694	0.00692	0.3704:0.1734:0.2798:0.1764	.	187	A6H8M9-2	.	T	187	ENSP00000341302:P187T	ENSP00000341302:P187T	P	-	1	0	CDHR4	49811275	0.262000	0.24073	0.001000	0.08648	0.005000	0.04900	1.481000	0.35476	-0.120000	0.11809	-0.282000	0.10007	CCA		0.612	CDHR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350387.1	NM_001007540		9	31	1	0	0.00621372	0.006214	0.00654959	9	31				
IFRD2	7866	broad.mit.edu	37	3	50326124	50326124	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:50326124C>A	ENST00000429673.2	-	10	1233	c.1234G>T	c.(1234-1236)Gag>Tag	p.E412*	IFRD2_ENST00000436390.1_Nonsense_Mutation_p.E348*|IFRD2_ENST00000336089.4_Nonsense_Mutation_p.E514*|IFRD2_ENST00000484043.1_5'Flank|IFRD2_ENST00000417626.2_Nonsense_Mutation_p.E348*			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	412						nucleus (GO:0005634)		p.E514*(2)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CGCACTATCTCTTCTTCGCAT	0.582																																							uc011bdp.1		NA																	2	Substitution - Nonsense(2)		lung(2)	lung(2)|ovary(1)	3						c.(1234-1236)GAG>TAG		interferon-related developmental regulator 2							64.0	68.0	67.0					3																	50326124		2136	4242	6378	SO:0001587	stop_gained	7866						binding	g.chr3:50326124C>A	U09585		3p21.3	2008-07-18			ENSG00000214706	ENSG00000214706			5457	protein-coding gene	gene with protein product	"""interferon-related protein"""	602725				9050919	Standard	NM_006764		Approved	SKMc15, SM15, IFNRP	uc011bdp.2	Q12894	OTTHUMG00000156935	ENST00000429673.2:c.1234G>T	3.37:g.50326124C>A	ENSP00000398971:p.Glu412*					IFRD2_uc003czb.2_Nonsense_Mutation_p.E514*	p.E412*	NM_006764	NP_006755	Q12894	IFRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	10	1363	-			412					Q9BVB4|Q9UJ88	Nonsense_Mutation	SNP	ENST00000429673.2	37	c.1234G>T	CCDS46831.1	.	.	.	.	.	.	.	.	.	.	C	30	5.057218	0.93846	.	.	ENSG00000214706	ENST00000417626;ENST00000436390;ENST00000336089;ENST00000429673	.	.	.	5.53	4.64	0.57946	.	0.049308	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-22.841	14.3645	0.66795	0.0:0.8509:0.1491:0.0	.	.	.	.	X	348;348;514;412	.	ENSP00000336936:E514X	E	-	1	0	IFRD2	50301128	1.000000	0.71417	0.911000	0.35937	0.861000	0.49209	5.477000	0.66799	1.438000	0.47492	0.655000	0.94253	GAG		0.582	IFRD2-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006764		22	28	1	0	1.28384e-07	0.001882	1.55427e-07	22	28				
FAM86DP	692099	broad.mit.edu	37	3	75476630	75476630	+	RNA	SNP	T	T	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:75476630T>G	ENST00000459803.1	-	0	726					NR_024241.1				family with sequence similarity 86, member D, pseudogene									p.V229V(2)									GGACCGTCGCTACGTCCCAGT	0.582																																							uc003dpp.3		NA																	2	Substitution - coding silent(2)		urinary_tract(1)|prostate(1)		0						c.(433-435)GTA>GTC		RecName: Full=Protein FAM86B1;																																						692099							g.chr3:75476630T>G	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75476630T>G						FAM86D_uc003dpo.3_Intron|FAM86D_uc003dps.3_Intron|FAM86D_uc003dpq.3_Silent_p.V53V|FAM86D_uc003dpr.3_Intron	p.V145V	NR_024241						6	794	-									Silent	SNP	ENST00000459803.1	37	c.435A>C																																																																																					0.582	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		5	54	0	0	0	0.001984	0	5	54				
ROBO2	6092	broad.mit.edu	37	3	77684057	77684057	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:77684057C>A	ENST00000461745.1	+	24	4697	c.3797C>A	c.(3796-3798)aCc>aAc	p.T1266N	ROBO2_ENST00000332191.8_Missense_Mutation_p.T1327N|ROBO2_ENST00000487694.3_Missense_Mutation_p.T1282N	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1266					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.T1282N(2)|p.T1266N(2)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCTCGACCTACCAGCCCATTT	0.463																																							uc003dpy.3		NA																	4	Substitution - Missense(4)		lung(4)	lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11						c.(3796-3798)ACC>AAC		roundabout, axon guidance receptor, homolog 2							145.0	142.0	143.0					3																	77684057		1873	4117	5990	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77684057C>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3797C>A	3.37:g.77684057C>A	ENSP00000417164:p.Thr1266Asn					ROBO2_uc003dpz.2_Missense_Mutation_p.T1331N|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.T1270N	p.T1266N	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	24	4440	+			1266			Cytoplasmic (Potential).		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.3797C>A	CCDS43109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.92|13.92	2.381077|2.381077	0.42207|0.42207	.|.	.|.	ENSG00000185008|ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000461745;ENST00000332191|ENST00000475334	T;T;T|.	0.64991|.	-0.03;0.0;-0.13|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.146070|.	0.31145|.	N|.	0.008171|.	T|.	0.55940|.	0.1952|.	L|L	0.29908|0.29908	0.895|0.895	0.30870|.	N|.	0.732575|.	B;B;B|.	0.18968|.	0.012;0.032;0.012|.	B;B;B|.	0.17098|.	0.01;0.017;0.01|.	T|.	0.58578|.	-0.7612|.	9|.	0.23891|.	T|.	0.37|.	.|.	16.0315|16.0315	0.80582|0.80582	0.0:0.8565:0.1434:0.0|0.0:0.8565:0.1434:0.0	.|.	1282;1327;1266|.	Q19AB5;F8W703;Q9HCK4|.	.;.;ROBO2_HUMAN|.	N|X	1282;1282;1266;1327|97	ENSP00000417335:T1282N;ENSP00000417164:T1266N;ENSP00000327536:T1327N|.	ENSP00000327536:T1327N|.	T|Y	+|+	2|3	0|2	ROBO2|ROBO2	77766747|77766747	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.258000|2.258000	0.43249|0.43249	2.607000|2.607000	0.88179|0.88179	0.650000|0.650000	0.86243|0.86243	ACC|TAC		0.463	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		37	94	1	0	1.07121e-22	0.006999	1.76168e-22	37	94				
VGLL3	389136	broad.mit.edu	37	3	87018101	87018101	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:87018101C>A	ENST00000398399.2	-	3	939	c.576G>T	c.(574-576)ctG>ctT	p.L192L	VGLL3_ENST00000383698.3_Silent_p.L192L	NM_016206.2	NP_057290.2			vestigial-like family member 3									p.L192L(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CAGTCTGATGCAGGTTGTGTC	0.582																																							uc003dqn.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(574-576)CTG>CTT		colon carcinoma related protein							65.0	69.0	68.0					3																	87018101		2065	4205	6270	SO:0001819	synonymous_variant	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87018101C>A	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.576G>T	3.37:g.87018101C>A							p.L192L	NM_016206	NP_057290	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	3	940	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	192						Silent	SNP	ENST00000398399.2	37	c.576G>T	CCDS43110.1	.	.	.	.	.	.	.	.	.	.	C	6.112	0.388960	0.11581	.	.	ENSG00000206538	ENST00000494229	.	.	.	5.81	2.88	0.33553	.	.	.	.	.	T	0.46737	0.1408	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34179	-0.9839	4	.	.	.	-8.3424	3.5919	0.07991	0.1264:0.4908:0.2454:0.1374	.	.	.	.	S	126	.	.	A	-	1	0	VGLL3	87100791	0.998000	0.40836	0.998000	0.56505	0.837000	0.47467	0.491000	0.22419	0.762000	0.33152	-0.409000	0.06214	GCA		0.582	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		24	130	1	0	7.88262e-20	0.00333	1.24751e-19	24	130				
DHFRL1	200895	broad.mit.edu	37	3	93780055	93780055	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:93780055T>A	ENST00000394221.2	-	2	750	c.301A>T	c.(301-303)Act>Tct	p.T101S	DHFRL1_ENST00000481631.1_Intron|NSUN3_ENST00000314622.4_5'Flank|DHFRL1_ENST00000314636.2_Missense_Mutation_p.T101S	NM_001195643.1	NP_001182572.1	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	101	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				glycine biosynthetic process (GO:0006545)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|thymidine biosynthetic process (GO:0046105)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dihydrofolate reductase activity (GO:0004146)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)	p.T101S(1)		kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						GGTCGTTCAGTAAGTTTTAAG	0.378																																							uc003dri.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(301-303)ACT>TCT		dihydrofolate reductase-like 1							126.0	128.0	128.0					3																	93780055		2203	4300	6503	SO:0001583	missense	200895				glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process		dihydrofolate reductase activity|NADP binding	g.chr3:93780055T>A	AL832912	CCDS2926.1	3q11.2	2005-08-16	2005-02-07		ENSG00000178700	ENSG00000178700			27309	protein-coding gene	gene with protein product			"""dihydrofolate reductase pseudogene 4"""	DHFRP4		12477932	Standard	NM_001195643		Approved	FLJ16119	uc003drj.3	Q86XF0	OTTHUMG00000159014	ENST00000394221.2:c.301A>T	3.37:g.93780055T>A	ENSP00000377768:p.Thr101Ser					DHFRL1_uc003drj.2_Missense_Mutation_p.T101S|NSUN3_uc003drk.2_5'Flank|NSUN3_uc003drl.1_5'Flank	p.T101S	NM_176815	NP_789785	Q86XF0	DYRL1_HUMAN			2	467	-			101			DHFR.		D3DN30|Q6P4I9	Missense_Mutation	SNP	ENST00000394221.2	37	c.301A>T	CCDS2926.1	.	.	.	.	.	.	.	.	.	.	T	8.866	0.948202	0.18356	.	.	ENSG00000178700	ENST00000314636;ENST00000394221;ENST00000496983	T;T;T	0.71698	-0.59;-0.59;-0.59	1.25	1.25	0.21368	Dihydrofolate reductase domain (2);Dihydrofolate reductase-like domain (2);	0.369157	0.22496	U	0.059281	T	0.46092	0.1375	N	0.13003	0.285	0.19775	N	0.999953	B	0.12630	0.006	B	0.14023	0.01	T	0.27536	-1.0071	10	0.45353	T	0.12	-0.975	3.3989	0.07316	0.3636:0.0:0.0:0.6364	.	101	Q86XF0	DYRL1_HUMAN	S	101	ENSP00000319170:T101S;ENSP00000377768:T101S;ENSP00000420810:T101S	ENSP00000319170:T101S	T	-	1	0	DHFRL1	95262745	0.067000	0.21026	0.988000	0.46212	0.853000	0.48598	-0.140000	0.10342	0.844000	0.35094	0.369000	0.22263	ACT		0.378	DHFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352910.1	NM_176815		15	179	0	0	0	0.00245	0	15	179				
GPR128	84873	broad.mit.edu	37	3	100373932	100373932	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:100373932G>A	ENST00000273352.3	+	12	1901	c.1633G>A	c.(1633-1635)Gca>Aca	p.A545T	GPR128_ENST00000475887.1_Missense_Mutation_p.A250T|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	545					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A545T(2)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TACCTGGAACGCACTCAGCGC	0.458																																					Pancreas(87;185 1975 7223 18722)	Pancreas(87;185 1975 7223 18722)	uc003duc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(1)	4						c.(1633-1635)GCA>ACA		G protein-coupled receptor 128 precursor							180.0	161.0	167.0					3																	100373932		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100373932G>A	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1633G>A	3.37:g.100373932G>A	ENSP00000273352:p.Ala545Thr					GPR128_uc011bhc.1_Missense_Mutation_p.A246T|GPR128_uc003dud.2_Missense_Mutation_p.A68T	p.A545T	NM_032787	NP_116176	Q96K78	GP128_HUMAN			12	1901	+			545			Helical; Name=3; (Potential).		Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.1633G>A	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.483222	0.26598	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.36520	1.25;1.25	5.5	5.5	0.81552	GPCR, family 2-like (1);	0.529435	0.18593	N	0.136681	T	0.27832	0.0685	L	0.28115	0.83	0.09310	N	1	P;B	0.37398	0.593;0.334	B;B	0.33392	0.163;0.079	T	0.22871	-1.0204	10	0.49607	T	0.09	.	16.1096	0.81250	0.0:0.0:1.0:0.0	.	250;545	E9PHI0;Q96K78	.;GP128_HUMAN	T	545;250	ENSP00000273352:A545T;ENSP00000419788:A250T	ENSP00000273352:A545T	A	+	1	0	GPR128	101856622	0.423000	0.25482	0.009000	0.14445	0.009000	0.06853	3.700000	0.54786	2.577000	0.86979	0.591000	0.81541	GCA		0.458	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			38	199	0	0	0	0.010771	0	38	199				
KIAA2018	205717	broad.mit.edu	37	3	113388977	113388977	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:113388977G>A	ENST00000478658.1	-	3	167	c.150C>T	c.(148-150)gcC>gcT	p.A50A	KIAA2018_ENST00000491165.1_Silent_p.A50A|KIAA2018_ENST00000316407.4_Silent_p.A50A			Q68DE3	K2018_HUMAN	KIAA2018	50	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.A50A(2)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CCTGCTTCAGGGCAGGAGAAC	0.368																																							uc003eam.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(2)|ovary(1)	3						c.(148-150)GCC>GCT		hypothetical protein LOC205717							165.0	152.0	156.0					3																	113388977		1864	4105	5969	SO:0001819	synonymous_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113388977G>A	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.150C>T	3.37:g.113388977G>A						KIAA2018_uc003eal.2_5'UTR	p.A50A	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN			5	561	-			50			Helix-loop-helix motif.		Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	37	c.150C>T	CCDS43133.1																																																																																				0.368	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		11	104	0	0	0	0.010729	0	11	104				
IGSF11	152404	broad.mit.edu	37	3	118624531	118624531	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:118624531G>T	ENST00000393775.2	-	5	920	c.615C>A	c.(613-615)atC>atA	p.I205I	IGSF11_ENST00000489689.1_Silent_p.I205I|IGSF11_ENST00000425327.2_Silent_p.I204I|IGSF11_ENST00000354673.2_Silent_p.I204I|IGSF11_ENST00000441144.2_Silent_p.I204I|IGSF11_ENST00000491903.1_Silent_p.I205I	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	205	Ig-like C2-type.				cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I204I(2)|p.I205I(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACAGGGCACTGATGTTCCGGA	0.473																																							uc003ebw.2		NA																	4	Substitution - coding silent(4)		lung(4)		0						c.(613-615)ATC>ATA		immunoglobulin superfamily, member 11 isoform b							114.0	110.0	111.0					3																	118624531		2203	4300	6503	SO:0001819	synonymous_variant	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118624531G>T	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.615C>A	3.37:g.118624531G>T						IGSF11_uc011biv.1_Silent_p.I205I|IGSF11_uc003ebx.2_Silent_p.I205I|IGSF11_uc003eby.2_Silent_p.I204I|IGSF11_uc003ebz.2_Silent_p.I204I|IGSF11_uc010hqs.2_Silent_p.I204I	p.I205I	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN			5	862	-			205			Ig-like C2-type.|Extracellular (Potential).		C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Silent	SNP	ENST00000393775.2	37	c.615C>A	CCDS46891.1																																																																																				0.473	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			13	87	1	0	1.61879e-10	0.001368	2.15576e-10	13	87				
TIMMDC1	51300	broad.mit.edu	37	3	119222382	119222382	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:119222382T>G	ENST00000494664.1	+	3	566	c.364T>G	c.(364-366)Tct>Gct	p.S122A	TIMMDC1_ENST00000493694.1_Intron	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	122						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.S122A(2)		autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						ACTTTAGCAATCTGCACATCG	0.418																																							uc003ecn.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(364-366)TCT>GCT		hypothetical protein LOC51300							69.0	66.0	67.0					3																	119222382		2203	4300	6503	SO:0001583	missense	51300					integral to membrane|mitochondrial inner membrane	protein transporter activity	g.chr3:119222382T>G	AF210057	CCDS33831.1	3q13.33	2013-12-05	2011-07-05	2011-07-05	ENSG00000113845	ENSG00000113845			1321	protein-coding gene	gene with protein product		615534	"""chromosome 3 open reading frame 1"""	C3orf1		11092749	Standard	NM_016589		Approved	FLJ22597	uc003ecn.3	Q9NPL8	OTTHUMG00000159388	ENST00000494664.1:c.364T>G	3.37:g.119222382T>G	ENSP00000418803:p.Ser122Ala					C3orf1_uc003eco.2_RNA|C3orf1_uc003ecp.2_RNA	p.S122A	NM_016589	NP_057673	Q9NPL8	TIDC1_HUMAN		GBM - Glioblastoma multiforme(114;0.186)	3	577	+			122					D3DN81|Q6IAJ7|Q6UWU6|Q9NPR3|Q9NPS5|Q9P0Y6	Missense_Mutation	SNP	ENST00000494664.1	37	c.364T>G	CCDS33831.1	.	.	.	.	.	.	.	.	.	.	T	8.274	0.814038	0.16537	.	.	ENSG00000113845	ENST00000494664	T	0.29142	1.58	5.59	-0.0949	0.13643	.	0.753844	0.12794	N	0.438598	T	0.26846	0.0657	M	0.63428	1.95	0.80722	D	1	B	0.14438	0.01	B	0.17722	0.019	T	0.05517	-1.0880	10	0.37606	T	0.19	-6.3713	5.7178	0.17970	0.4143:0.0:0.1184:0.4672	.	122	Q9NPL8	TIDC1_HUMAN	A	122	ENSP00000418803:S122A	ENSP00000264244:S122A	S	+	1	0	TIMMDC1	120705072	1.000000	0.71417	0.948000	0.38648	0.156000	0.22039	1.449000	0.35123	-0.247000	0.09597	-0.695000	0.03696	TCT		0.418	TIMMDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355077.3	NM_016589		5	28	0	0	0	0.001984	0	5	28				
STXBP5L	9515	broad.mit.edu	37	3	120952514	120952514	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:120952514T>C	ENST00000273666.6	+	12	1434	c.1163T>C	c.(1162-1164)gTa>gCa	p.V388A	STXBP5L_ENST00000472879.1_Missense_Mutation_p.V388A|STXBP5L_ENST00000471454.1_Missense_Mutation_p.V388A|STXBP5L_ENST00000497029.1_Missense_Mutation_p.V388A|STXBP5L_ENST00000492541.1_Missense_Mutation_p.V388A	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	388					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V388A(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GATCTCATTGTAGTTGATCTG	0.284																																							uc003eec.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(1162-1164)GTA>GCA		syntaxin binding protein 5-like							89.0	84.0	85.0					3																	120952514		1812	4076	5888	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120952514T>C	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1163T>C	3.37:g.120952514T>C	ENSP00000273666:p.Val388Ala					STXBP5L_uc011bji.1_Missense_Mutation_p.V388A	p.V388A	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	12	1303	+			388			WD 7.		Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.1163T>C	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	T	16.33	3.091806	0.55968	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.42513	1.64;1.66;1.46;0.97;1.44;1.65	4.27	4.27	0.50696	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.000000	0.85682	D	0.000000	T	0.55449	0.1921	L	0.48986	1.54	0.58432	D	0.999999	P;D	0.71674	0.89;0.998	P;D	0.80764	0.649;0.994	T	0.51004	-0.8760	10	0.27082	T	0.32	-39.5716	13.5429	0.61686	0.0:0.0:0.0:1.0	.	388;388	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	A	388	ENSP00000273666:V388A;ENSP00000420019:V388A;ENSP00000419627:V388A;ENSP00000420287:V388A;ENSP00000420666:V388A;ENSP00000420167:V388A	ENSP00000273666:V388A	V	+	2	0	STXBP5L	122435204	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.486000	0.81215	1.781000	0.52344	0.402000	0.26972	GTA		0.284	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			11	42	0	0	0	0.003163	0	11	42				
SLC12A8	84561	broad.mit.edu	37	3	124802813	124802813	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:124802813T>A	ENST00000393469.4	-	13	2115	c.2066A>T	c.(2065-2067)gAg>gTg	p.E689V	SLC12A8_ENST00000430155.2_Missense_Mutation_p.E490V|SLC12A8_ENST00000314584.7_Missense_Mutation_p.E350V|SLC12A8_ENST00000423114.2_Missense_Mutation_p.E718V|SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000469902.1_Missense_Mutation_p.E689V	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	689					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.E727V(2)|p.E689V(2)		endometrium(2)|kidney(2)|lung(12)	16						GTCTGCATTCTCCTGGGTGAG	0.587																																							uc003ehv.3		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(2065-2067)GAG>GTG		solute carrier family 12, member 8							61.0	67.0	65.0					3																	124802813		2125	4234	6359	SO:0001583	missense	84561				potassium ion transport	integral to membrane	symporter activity	g.chr3:124802813T>A		CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"""Solute carriers"""	15595	protein-coding gene	gene with protein product	"""solute carrier family 12 (sodium/potassium/chloride transporters), member 8"", ""cation-chloride cotransporter 9"""	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.2066A>T	3.37:g.124802813T>A	ENSP00000377112:p.Glu689Val					SLC12A8_uc003ehw.3_Missense_Mutation_p.E718V|SLC12A8_uc003eht.3_Missense_Mutation_p.E490V|SLC12A8_uc003ehu.3_Missense_Mutation_p.E442V|SLC12A8_uc010hry.2_3'UTR	p.E689V	NM_024628	NP_078904	A0AV02	S12A8_HUMAN			14	2177	-			689					C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Missense_Mutation	SNP	ENST00000393469.4	37	c.2066A>T	CCDS43143.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.555611	0.86231	.	.	ENSG00000221955	ENST00000430155;ENST00000393469;ENST00000423114;ENST00000469902;ENST00000314584	D;D;D;D;D	0.90620	-2.29;-2.68;-2.7;-2.68;-1.86	4.9	4.9	0.64082	.	.	.	.	.	D	0.94321	0.8175	M	0.71581	2.175	0.31451	N	0.670693	D;D;D	0.76494	0.987;0.995;0.999	D;P;D	0.71414	0.943;0.888;0.973	D	0.93575	0.6907	9	0.62326	D	0.03	.	13.6331	0.62206	0.0:0.0:0.0:1.0	.	718;689;490	A0AV02-2;A0AV02;A0AV02-3	.;S12A8_HUMAN;.	V	490;689;718;689;350	ENSP00000415713:E490V;ENSP00000377112:E689V;ENSP00000404243:E718V;ENSP00000418783:E689V;ENSP00000323632:E350V	ENSP00000323632:E350V	E	-	2	0	SLC12A8	126285503	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.112000	0.71547	2.050000	0.60909	0.460000	0.39030	GAG		0.587	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628		15	33	0	0	0	0.003163	0	15	33				
DZIP1L	199221	broad.mit.edu	37	3	137816623	137816623	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:137816623C>T	ENST00000327532.2	-	3	930	c.568G>A	c.(568-570)Gca>Aca	p.A190T	DZIP1L_ENST00000469243.1_Missense_Mutation_p.A190T	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	190					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)	p.A190T(2)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						gccacgcctgcatgcctgcgc	0.577											OREG0015831	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003erq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(568-570)GCA>ACA		DAZ interacting protein 1-like							51.0	42.0	45.0					3																	137816623		2203	4300	6503	SO:0001583	missense	199221					intracellular	zinc ion binding	g.chr3:137816623C>T	AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.568G>A	3.37:g.137816623C>T	ENSP00000332148:p.Ala190Thr		OREG0015831	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1636	DZIP1L_uc003err.1_Missense_Mutation_p.A190T	p.A190T	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN			3	931	-			190					C9JUG5|Q96M38	Missense_Mutation	SNP	ENST00000327532.2	37	c.568G>A	CCDS3096.1	.	.	.	.	.	.	.	.	.	.	C	9.666	1.145463	0.21288	.	.	ENSG00000158163	ENST00000327532;ENST00000469243;ENST00000536706	T;T	0.46819	0.86;0.86	5.14	-1.84	0.07809	Zinc finger, C2H2 (1);	1.083410	0.07249	N	0.865590	T	0.22936	0.0554	N	0.21097	0.63	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.09377	0.004;0.003	T	0.21552	-1.0242	10	0.02654	T	1	2.5996	1.305	0.02086	0.2109:0.2008:0.3629:0.2253	.	190;190	Q8IYY4-2;Q8IYY4	.;DZI1L_HUMAN	T	190	ENSP00000332148:A190T;ENSP00000419486:A190T	ENSP00000332148:A190T	A	-	1	0	DZIP1L	139299313	0.000000	0.05858	0.000000	0.03702	0.470000	0.32858	-1.533000	0.02215	-0.693000	0.05121	0.655000	0.94253	GCA		0.577	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543		5	16	0	0	0	0.001168	0	5	16				
PRR23A	729627	broad.mit.edu	37	3	138724401	138724401	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:138724401G>T	ENST00000383163.2	-	1	709	c.710C>A	c.(709-711)tCt>tAt	p.S237Y	MRPS22_ENST00000495075.1_5'Flank	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	237	Pro-rich.							p.S237Y(1)		endometrium(3)|kidney(1)|lung(7)	11						CACGCGCGGAGAGGGAGGTAG	0.652																																							uc011bms.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(709-711)TCT>TAT		proline rich 23A							24.0	27.0	26.0					3																	138724401		692	1591	2283	SO:0001583	missense	729627							g.chr3:138724401G>T		CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.710C>A	3.37:g.138724401G>T	ENSP00000372649:p.Ser237Tyr						p.S237Y	NM_001134659	NP_001128131	A6NEV1	PR23A_HUMAN			1	710	-			237			Pro-rich.			Missense_Mutation	SNP	ENST00000383163.2	37	c.710C>A	CCDS46923.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.483507	0.26598	.	.	ENSG00000206260	ENST00000383163	.	.	.	3.23	1.41	0.22369	.	0.506620	0.16874	N	0.195994	T	0.49115	0.1538	M	0.68593	2.085	0.09310	N	1	D	0.54772	0.968	P	0.56343	0.796	T	0.30765	-0.9967	9	0.44086	T	0.13	.	5.3399	0.15979	0.2679:0.0:0.7321:0.0	.	237	A6NEV1	PR23A_HUMAN	Y	237	.	ENSP00000372649:S237Y	S	-	2	0	PRR23A	140207091	0.216000	0.23585	0.009000	0.14445	0.004000	0.04260	0.627000	0.24506	0.391000	0.25143	0.591000	0.81541	TCT		0.652	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361503.1	NM_001134659		5	16	1	0	0.000602214	0.000602	0.000643462	5	16				
ZIC1	7545	broad.mit.edu	37	3	147128282	147128282	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:147128282T>A	ENST00000282928.4	+	1	1112	c.383T>A	c.(382-384)tTc>tAc	p.F128Y		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	128					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F128Y(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCCGGGGGCTTCGGGGGCCCA	0.711																																							uc003ewe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(382-384)TTC>TAC		zinc finger protein of the cerebellum 1							11.0	14.0	13.0					3																	147128282		2127	4227	6354	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128282T>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.383T>A	3.37:g.147128282T>A	ENSP00000282928:p.Phe128Tyr						p.F128Y	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	1102	+			128					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.383T>A	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	T	17.16	3.319460	0.60524	.	.	ENSG00000152977	ENST00000282928	T	0.38722	1.12	3.34	3.34	0.38264	.	0.000000	0.85682	D	0.000000	T	0.39118	0.1066	N	0.19112	0.55	0.58432	D	0.99999	D	0.62365	0.991	P	0.60541	0.876	T	0.09100	-1.0690	10	0.08599	T	0.76	.	12.1724	0.54165	0.0:0.0:0.0:1.0	.	128	Q15915	ZIC1_HUMAN	Y	128	ENSP00000282928:F128Y	ENSP00000282928:F128Y	F	+	2	0	ZIC1	148610972	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.929000	0.48916	1.530000	0.49136	0.443000	0.29094	TTC		0.711	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		6	25	0	0	0	0.00308	0	6	25				
ZIC1	7545	broad.mit.edu	37	3	147128284	147128284	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:147128284G>T	ENST00000282928.4	+	1	1114	c.385G>T	c.(385-387)Ggg>Tgg	p.G129W		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	129					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G129W(1)|p.G129R(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CGGGGGCTTCGGGGGCCCACA	0.716																																							uc003ewe.2		NA																	2	Substitution - Missense(2)		cervix(1)|lung(1)	ovary(1)|central_nervous_system(1)	2						c.(385-387)GGG>TGG		zinc finger protein of the cerebellum 1							11.0	14.0	13.0					3																	147128284		2133	4234	6367	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128284G>T	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.385G>T	3.37:g.147128284G>T	ENSP00000282928:p.Gly129Trp						p.G129W	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	1104	+			129					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.385G>T	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771175	0.69992	.	.	ENSG00000152977	ENST00000282928	T	0.35605	1.3	3.34	3.34	0.38264	.	0.120868	0.53938	D	0.000050	T	0.33990	0.0882	N	0.14661	0.345	0.48452	D	0.999656	P	0.43607	0.812	P	0.51974	0.686	T	0.22034	-1.0228	10	0.37606	T	0.19	.	15.1964	0.73092	0.0:0.0:1.0:0.0	.	129	Q15915	ZIC1_HUMAN	W	129	ENSP00000282928:G129W	ENSP00000282928:G129W	G	+	1	0	ZIC1	148610974	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.517000	0.60503	1.878000	0.54408	0.542000	0.68232	GGG		0.716	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		7	26	1	0	0.00621372	0.006214	0.00654959	7	26				
NMD3	51068	broad.mit.edu	37	3	160945076	160945076	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:160945076A>T	ENST00000460469.1	+	3	676	c.221A>T	c.(220-222)gAa>gTa	p.E74V	NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000472947.1_Missense_Mutation_p.E74V|NMD3_ENST00000351193.2_Missense_Mutation_p.E74V			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	74					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)	p.E74V(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TGTGCTTTAGAATCCAGGGAA	0.358																																							uc003feb.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(220-222)GAA>GTA		NMD3 homolog							139.0	135.0	136.0					3																	160945076		2203	4300	6503	SO:0001583	missense	51068				protein transport	cytoplasm|nucleolus|nucleoplasm		g.chr3:160945076A>T	BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"""NMD3 homolog (S. cerevisiae)"""			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.221A>T	3.37:g.160945076A>T	ENSP00000419004:p.Glu74Val					NMD3_uc003fec.2_Missense_Mutation_p.E74V|NMD3_uc003fed.1_Missense_Mutation_p.E74V	p.E74V	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)		4	340	+			74					D3DNM7|Q9Y2Z6	Missense_Mutation	SNP	ENST00000460469.1	37	c.221A>T	CCDS3194.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.706818	0.89018	.	.	ENSG00000169251	ENST00000468606;ENST00000460503;ENST00000493066;ENST00000351193;ENST00000472947;ENST00000463518;ENST00000476237;ENST00000460469	T;T;T;T;T;T;T;T	0.60299	0.2;0.42;0.57;0.42;0.39;0.57;0.42;0.42	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.83908	0.5356	H	0.96970	3.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.89360	0.3667	10	0.87932	D	0	-44.984	15.0234	0.71650	1.0:0.0:0.0:0.0	.	74;74	C9JA08;Q96D46	.;NMD3_HUMAN	V	74	ENSP00000418852:E74V;ENSP00000418980:E74V;ENSP00000419030:E74V;ENSP00000307525:E74V;ENSP00000417559:E74V;ENSP00000418908:E74V;ENSP00000419647:E74V;ENSP00000419004:E74V	ENSP00000307525:E74V	E	+	2	0	NMD3	162427770	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.319000	0.89992	2.141000	0.66446	0.482000	0.46254	GAA		0.358	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1	NM_015938		10	80	0	0	0	0.001368	0	10	80				
BCHE	590	broad.mit.edu	37	3	165548021	165548021	+	Silent	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:165548021A>T	ENST00000264381.3	-	2	967	c.801T>A	c.(799-801)gcT>gcA	p.A267A	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	267					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)	p.A267A(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TTCTGTTCCTAGCTTCATAAA	0.403																																							uc003fem.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|pancreas(1)	4						c.(799-801)GCT>GCA		butyrylcholinesterase precursor	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						100.0	104.0	103.0					3																	165548021		2203	4299	6502	SO:0001819	synonymous_variant	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165548021A>T	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.801T>A	3.37:g.165548021A>T						BCHE_uc003fen.3_Intron	p.A267A	NM_000055	NP_000046	P06276	CHLE_HUMAN			2	961	-			267					A8K7P8	Silent	SNP	ENST00000264381.3	37	c.801T>A	CCDS3198.1																																																																																				0.403	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			33	101	0	0	0	0.012213	0	33	101				
TTC14	151613	broad.mit.edu	37	3	180327803	180327803	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:180327803G>T	ENST00000296015.4	+	12	1918	c.1786G>T	c.(1786-1788)Gat>Tat	p.D596Y	TTC14_ENST00000382584.4_Intron|TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000465625.1_3'UTR	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	596							RNA binding (GO:0003723)	p.D596Y(2)|p.D596N(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TAGGTCTGAAGATCCAAGAGA	0.353																																							uc003fkk.2		NA																	3	Substitution - Missense(3)		lung(2)|endometrium(1)	ovary(1)	1						c.(1786-1788)GAT>TAT		tetratricopeptide repeat domain 14 isoform a							158.0	187.0	177.0					3																	180327803		2200	4297	6497	SO:0001583	missense	151613						RNA binding	g.chr3:180327803G>T	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.1786G>T	3.37:g.180327803G>T	ENSP00000296015:p.Asp596Tyr					TTC14_uc003fkl.2_3'UTR|TTC14_uc003fkm.2_Intron	p.D596Y	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		12	1918	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		596					G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	c.1786G>T	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694097	0.48202	.	.	ENSG00000163728	ENST00000296015	T	0.18338	2.22	5.55	5.55	0.83447	.	0.175991	0.49916	D	0.000135	T	0.24699	0.0599	L	0.27053	0.805	0.80722	D	1	D	0.57899	0.981	P	0.53401	0.725	T	0.00893	-1.1524	10	0.59425	D	0.04	-4.9146	19.4929	0.95059	0.0:0.0:1.0:0.0	.	596	Q96N46	TTC14_HUMAN	Y	596	ENSP00000296015:D596Y	ENSP00000296015:D596Y	D	+	1	0	TTC14	181810497	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	3.955000	0.56715	2.599000	0.87857	0.655000	0.94253	GAT		0.353	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		62	363	1	0	2.81305e-35	0.00361	5.27809e-35	62	363				
AHSG	197	broad.mit.edu	37	3	186335082	186335082	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:186335082C>A	ENST00000273784.5	+	4	595	c.519C>A	c.(517-519)aaC>aaA	p.N173K	AHSG_ENST00000411641.2_Missense_Mutation_p.N172K	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	172	Cystatin fetuin-A-type 2. {ECO:0000255|PROSITE-ProRule:PRU00861}.			PLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQL -> MVGW QEGANHKNGAGRSQKQEMAEKMVPEVASG (in Ref. 12; AAF69649). {ECO:0000305}.	acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)	p.N172K(2)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CCGCCTTCAACGCTCAGAACA	0.602											OREG0015968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003fqk.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(514-516)AAC>AAA		alpha-2-HS-glycoprotein							74.0	72.0	73.0					3																	186335082		2203	4300	6503	SO:0001583	missense	197				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr3:186335082C>A	D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192			349	protein-coding gene	gene with protein product		138680				9322749, 7736783	Standard	NM_001622		Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.519C>A	3.37:g.186335082C>A	ENSP00000273784:p.Asn173Lys		OREG0015968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2006	AHSG_uc003fqj.2_Missense_Mutation_p.N172K|AHSG_uc003fql.3_Missense_Mutation_p.N173K|AHSG_uc003fqm.3_Missense_Mutation_p.N171K|AHSG_uc010hyp.2_Missense_Mutation_p.N135K	p.N172K	NM_001622	NP_001613	P02765	FETUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)	4	597	+	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		172	PLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQL -> MVGW QEGANHKNGAGRSQKQEMAEKMVPEVASG (in Ref. 12; AAF69649).		Cystatin fetuin-A-type 2.		A8K9N6|B2R7G1|O14961|O14962|Q9P152	Missense_Mutation	SNP	ENST00000273784.5	37	c.516C>A		.	.	.	.	.	.	.	.	.	.	c	12.33	1.906291	0.33628	.	.	ENSG00000145192	ENST00000411641;ENST00000541510;ENST00000273784	T;T	0.55234	0.53;0.53	5.61	-0.531	0.11894	Proteinase inhibitor I25, cystatin (2);	0.070849	0.64402	D	0.000015	T	0.70570	0.3239	M	0.87827	2.91	0.39738	D	0.97171	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.989;0.999	T	0.72104	-0.4391	10	0.72032	D	0.01	-37.5289	9.5653	0.39394	0.0:0.5175:0.0:0.4825	.	238;172;173;172	F5H0Q5;P02765;C9JV77;B7Z556	.;FETUA_HUMAN;.;.	K	172;238;173	ENSP00000393887:N172K;ENSP00000273784:N173K	ENSP00000273784:N173K	N	+	3	2	AHSG	187817776	0.000000	0.05858	0.073000	0.20177	0.037000	0.13140	-1.201000	0.03026	-0.079000	0.12707	0.561000	0.74099	AAC		0.602	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000344762.1	NM_001622		19	133	1	0	7.41877e-09	0.001882	9.24806e-09	19	133				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																							uc003fuw.2		NA																	0					0						c.(22-24)CCA>CCG		SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1);																																						727956							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G						SDHAP2_uc011btb.1_Missense_Mutation_p.S156G|SDHAP2_uc011btc.1_RNA|SDHAP2_uc003fuv.2_RNA	p.P8P							9	1218	+									Silent	SNP	ENST00000445430.1	37	c.24A>G																																																																																					0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	20	0	0	0	0.001168	0	3	20				
LRRC66	339977	broad.mit.edu	37	4	52861722	52861722	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:52861722C>T	ENST00000343457.3	-	4	1472	c.1466G>A	c.(1465-1467)gGa>gAa	p.G489E		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	489						integral component of membrane (GO:0016021)		p.G489E(2)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CCCGCACTGTCCTGGGCTCTG	0.547																																							uc003gzi.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1465-1467)GGA>GAA		leucine rich repeat containing 66							93.0	100.0	98.0					4																	52861722		2079	4203	6282	SO:0001583	missense	339977					integral to membrane		g.chr4:52861722C>T	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1466G>A	4.37:g.52861722C>T	ENSP00000341944:p.Gly489Glu						p.G489E	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			4	1479	-			489						Missense_Mutation	SNP	ENST00000343457.3	37	c.1466G>A	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	C	0.117	-1.130200	0.01756	.	.	ENSG00000188993	ENST00000343457	T	0.25414	1.8	3.94	-4.01	0.04045	.	1.054630	0.07489	N	0.905249	T	0.09642	0.0237	N	0.11201	0.11	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.38564	-0.9655	10	0.02654	T	1	-0.4766	7.3153	0.26498	0.0:0.5329:0.1571:0.31	.	489	Q68CR7	LRC66_HUMAN	E	489	ENSP00000341944:G489E	ENSP00000341944:G489E	G	-	2	0	LRRC66	52556479	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-1.134000	0.03228	-0.828000	0.04273	0.467000	0.42956	GGA		0.547	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		52	116	0	0	0	0.00361	0	52	116				
SPATA18	132671	broad.mit.edu	37	4	52944926	52944926	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:52944926C>A	ENST00000295213.4	+	8	1420	c.1046C>A	c.(1045-1047)gCa>gAa	p.A349E	SPATA18_ENST00000419395.2_Missense_Mutation_p.A317E	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	349					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)		p.A349E(4)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GCAAAAATGGCATTCAGACAC	0.383																																							uc003gzl.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)|skin(2)	4						c.(1045-1047)GCA>GAA		spermatogenesis associated 18 homolog							178.0	154.0	162.0					4																	52944926		2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52944926C>A	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.1046C>A	4.37:g.52944926C>A	ENSP00000295213:p.Ala349Glu					SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.A317E|SPATA18_uc003gzk.1_Missense_Mutation_p.A349E	p.A349E	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		8	1324	+			349					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.1046C>A	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.827021	0.71143	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.28069	1.63;1.63	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.51312	0.1667	L	0.54323	1.7	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;0.997	D;D;P	0.87578	0.998;0.998;0.884	T	0.51631	-0.8681	10	0.72032	D	0.01	-15.7259	15.8342	0.78787	0.0:1.0:0.0:0.0	.	317;349;349	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	E	349;317	ENSP00000295213:A349E;ENSP00000415309:A317E	ENSP00000295213:A349E	A	+	2	0	SPATA18	52639683	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	6.412000	0.73303	2.593000	0.87608	0.655000	0.94253	GCA		0.383	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		21	105	1	0	1.2644e-06	0.010504	1.48466e-06	21	105				
KIT	3815	broad.mit.edu	37	4	55593452	55593452	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:55593452T>A	ENST00000288135.5	+	10	1706	c.1609T>A	c.(1609-1611)Tgc>Agc	p.C537S		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	537					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.C537S(2)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGGCATGATGTGCATTATTGT	0.383		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																														uc010igr.2		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	Mis|O	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		GIST|epithelioma	GIST|AML|TGCT|mastocytosis|mucosal melanoma		2	Substitution - Missense(2)		lung(2)	soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118						c.(1609-1611)TGC>AGC		v-kit Hardy-Zuckerman 4 feline sarcoma viral	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						241.0	214.0	224.0					4																	55593452		2203	4300	6503	SO:0001583	missense	3815	Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55593452T>A	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1609T>A	4.37:g.55593452T>A	ENSP00000288135:p.Cys537Ser					KIT_uc010igs.2_Missense_Mutation_p.C533S|KIT_uc011bzw.1_RNA|KIT_uc010igt.1_5'Flank	p.C537S	NM_000222	NP_000213	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	10	1696	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		537			Helical; (Potential).		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.1609T>A	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	T	7.772	0.707580	0.15239	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	T;T	0.76709	-1.04;-1.03	5.9	3.32	0.38043	.	0.186107	0.39210	N	0.001427	T	0.62048	0.2396	L	0.27053	0.805	0.49299	D	0.999776	B;B	0.18863	0.02;0.031	B;B	0.24701	0.055;0.053	T	0.50792	-0.8786	10	0.13853	T	0.58	.	8.7207	0.34439	0.1243:0.0:0.1378:0.7379	.	533;537	P10721-2;P10721	.;KIT_HUMAN	S	537;533	ENSP00000288135:C537S;ENSP00000390987:C533S	ENSP00000288135:C537S	C	+	1	0	KIT	55288209	1.000000	0.71417	0.989000	0.46669	0.080000	0.17528	2.246000	0.43142	1.040000	0.40099	0.533000	0.62120	TGC		0.383	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			44	182	0	0	0	0.003214	0	44	182				
KDR	3791	broad.mit.edu	37	4	55979649	55979649	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:55979649C>A	ENST00000263923.4	-	7	1094		c.e7-1			NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)						angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.?(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TATGCTGATGCTGAAAAAAAG	0.373			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																													uc003has.2		NA		Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		2	Unknown(2)		lung(2)	lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.e7-1		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						85.0	83.0	84.0					4																	55979649		2203	4300	6503	SO:0001630	splice_region_variant	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55979649C>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.799-1G>T	4.37:g.55979649C>A		TSP Lung(20;0.16)				KDR_uc003hat.1_Splice_Site_p.H267_splice|KDR_uc011bzx.1_Splice_Site_p.H267_splice	p.H267_splice	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		7	1101	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)							A2RRS0|B5A925|C5IFA0|O60723|Q14178	Splice_Site	SNP	ENST00000263923.4	37	c.799_splice	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	9.636	1.137822	0.21123	.	.	ENSG00000128052	ENST00000263923	.	.	.	5.15	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0939	0.48132	0.1855:0.8145:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KDR	55674406	0.396000	0.25262	0.974000	0.42286	0.277000	0.26821	0.564000	0.23563	1.255000	0.44051	0.563000	0.77884	.		0.373	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1		Intron	22	63	1	0	1.87028e-06	0.001882	2.17271e-06	22	63				
LPHN3	23284	broad.mit.edu	37	4	62845321	62845321	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:62845321C>T	ENST00000514591.1	+	17	2971	c.2642C>T	c.(2641-2643)aCg>aTg	p.T881M	LPHN3_ENST00000504896.1_Missense_Mutation_p.T881M|LPHN3_ENST00000506700.1_Missense_Mutation_p.T881M|LPHN3_ENST00000508693.1_Missense_Mutation_p.T949M|LPHN3_ENST00000514157.1_Missense_Mutation_p.T881M|LPHN3_ENST00000507164.1_Missense_Mutation_p.T949M|LPHN3_ENST00000514996.1_Missense_Mutation_p.T881M|LPHN3_ENST00000509896.1_Missense_Mutation_p.T949M|LPHN3_ENST00000506746.1_Missense_Mutation_p.T949M|LPHN3_ENST00000512091.2_Missense_Mutation_p.T881M|LPHN3_ENST00000511324.1_Missense_Mutation_p.T949M|LPHN3_ENST00000507625.1_Missense_Mutation_p.T949M|LPHN3_ENST00000545650.1_Missense_Mutation_p.T881M|LPHN3_ENST00000508946.1_Missense_Mutation_p.T881M|LPHN3_ENST00000506720.1_Missense_Mutation_p.T949M			Q9HAR2	LPHN3_HUMAN	latrophilin 3	868					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.T881M(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GATGTGATCACGTGGGTTGGA	0.448																																							uc010ihh.2		NA																	3	Substitution - Missense(3)		lung(3)	lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(2641-2643)ACG>ATG		latrophilin 3 precursor							313.0	307.0	309.0					4																	62845321		1992	4175	6167	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62845321C>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2642C>T	4.37:g.62845321C>T	ENSP00000422533:p.Thr881Met					LPHN3_uc003hcq.3_Missense_Mutation_p.T881M|LPHN3_uc003hct.2_Missense_Mutation_p.T274M	p.T881M	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			15	2815	+			868			Helical; Name=1; (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2642C>T	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668111	0.88348	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25	5.5	5.5	0.81552	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.72028	0.3410	H	0.94964	3.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.79356	-0.1837	10	0.54805	T	0.06	.	19.0068	0.92854	0.0:1.0:0.0:0.0	.	881;868;881	E9PE04;Q9HAR2;Q9HAR2-2	.;LPHN3_HUMAN;.	M	881;881;949;949;881;881;868;881;949;949;949;881;881;881;949;949;881	ENSP00000423388:T881M;ENSP00000422533:T881M;ENSP00000423787:T949M;ENSP00000425033:T949M;ENSP00000424120:T881M;ENSP00000439831:T881M;ENSP00000421476:T949M;ENSP00000424030:T949M;ENSP00000421372:T949M;ENSP00000425201:T881M;ENSP00000423434:T881M;ENSP00000421627:T881M;ENSP00000420931:T949M;ENSP00000425884:T949M;ENSP00000424258:T881M	ENSP00000280009:T881M	T	+	2	0	LPHN3	62527916	1.000000	0.71417	0.957000	0.39632	0.987000	0.75469	7.771000	0.85420	2.580000	0.87095	0.467000	0.42956	ACG		0.448	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			108	319	0	0	0	0.00361	0	108	319				
GNRHR	2798	broad.mit.edu	37	4	68619638	68619638	+	Missense_Mutation	SNP	C	C	T	rs104893842		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:68619638C>T	ENST00000226413.4	-	1	440	c.416G>A	c.(415-417)cGc>cAc	p.R139H	UBA6-AS1_ENST00000500538.2_RNA|GNRHR_ENST00000420975.2_Missense_Mutation_p.R139H|UBA6-AS1_ENST00000502758.1_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	139			R -> H (in HH7; completely eliminates detectable GnRH-binding activity and prevents GnRH-induced stimulation of inositol phosphate accumulation in vitro). {ECO:0000269|PubMed:11397871}.		cellular response to gonadotropin-releasing hormone (GO:0097211)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gonadotropin-releasing hormone receptor activity (GO:0004968)	p.R139H(2)		endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)	AGCCAGGGAGCGGTCCAGGCT	0.512																																							uc003hdn.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1	GRCh37	CM012141	GNRHR	M	rs104893842	c.(415-417)CGC>CAC		gonadotropin-releasing hormone receptor isoform	Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	74.0	73.0	73.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	416,416	6.2	1.0	4	dbSNP_132	73	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	GNRHR	NM_000406.2,NM_001012763.1	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	139/329,139/250	68619638	1,13005	2203	4300	6503	SO:0001583	missense	2798				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity	g.chr4:68619638C>T		CCDS3517.1, CCDS47064.1	4q21.2	2012-08-08			ENSG00000109163	ENSG00000109163		"""GPCR / Class A : Gonadotropin-releasing hormone receptors"""	4421	protein-coding gene	gene with protein product		138850		GRHR		8386108	Standard	NM_000406		Approved	LHRHR	uc003hdn.3	P30968	OTTHUMG00000129302	ENST00000226413.4:c.416G>A	4.37:g.68619638C>T	ENSP00000226413:p.Arg139His					LOC550112_uc003hdl.3_Intron|GNRHR_uc003hdm.2_Missense_Mutation_p.R139H	p.R139H	NM_000406	NP_000397	P30968	GNRHR_HUMAN			1	2167	-			139		R -> H (in IHH; completely eliminates detectable GnRH-binding activity and prevents GnRH-induced stimulation of inositol phosphate accumulation in vitro).	Cytoplasmic (Potential).		O75793|Q14D13|Q92644	Missense_Mutation	SNP	ENST00000226413.4	37	c.416G>A	CCDS3517.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009710	0.93346	0.0	1.16E-4	ENSG00000109163	ENST00000226413;ENST00000420975	D;D	0.97161	-4.27;-4.27	6.17	6.17	0.99709	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000007	D	0.98713	0.9568	M	0.89030	3	0.58432	A	0.99999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.99320	1.0906	9	0.87932	D	0	-18.7797	18.3732	0.90420	0.0:1.0:0.0:0.0	.	139;139	P30968;P30968-2	GNRHR_HUMAN;.	H	139	ENSP00000226413:R139H;ENSP00000397561:R139H	ENSP00000226413:R139H	R	-	2	0	GNRHR	68302233	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.560000	0.82277	2.941000	0.99782	0.655000	0.94253	CGC		0.512	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251432.2			14	79	0	0	0	0.003163	0	14	79				
FRAS1	80144	broad.mit.edu	37	4	79296926	79296927	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:79296926_79296927GG>TT	ENST00000325942.6	+	26	3625_3626	c.3185_3186GG>TT	c.(3184-3186)aGG>aTT	p.R1062I	FRAS1_ENST00000264895.6_Missense_Mutation_p.R1062I	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1062					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.R1062I(3)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGCAGCCACAGGGACCGTTGTC	0.48																																							uc003hlb.2		NA																	3	Substitution - Missense(3)		lung(3)	large_intestine(5)	5						c.(3184-3186)AGG>ATT		Fraser syndrome 1																																				SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79296926_79296927GG>TT	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	Exception_encountered	4.37:g.79296926_79296927delinsTT	ENSP00000326330:p.Arg1062Ile					FRAS1_uc003hkw.2_Missense_Mutation_p.R1062I	p.R1062I	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			26	3625_3626	+			1061			FU 14.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	DNP	ENST00000325942.6	37	c.3185_3186GG>TT	CCDS54772.1																																																																																				0.480	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			3	29	0	0	0	0.004672	0	3	29				
DMP1	1758	broad.mit.edu	37	4	88584230	88584230	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:88584230C>A	ENST00000339673.6	+	6	1399	c.1300C>A	c.(1300-1302)Cag>Aag	p.Q434K	RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.Q418K|RP11-742B18.1_ENST00000506814.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	434					biomineral tissue development (GO:0031214)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|positive regulation of cell-substrate adhesion (GO:0010811)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)	p.Q434K(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GGAGGGCCTCCAGTCTCACAG	0.547																																							uc003hqv.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)|skin(1)	2						c.(1300-1302)CAG>AAG		dentin matrix acidic phosphoprotein 1 isoform 1							54.0	55.0	55.0					4																	88584230		2203	4300	6503	SO:0001583	missense	1758				biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	g.chr4:88584230C>A	U34037	CCDS3623.1, CCDS43249.1	4q21	2008-08-29	2008-08-29		ENSG00000152592	ENSG00000152592			2932	protein-coding gene	gene with protein product		600980	"""dentin matrix acidic phosphoprotein"""			8586437, 9177774	Standard	NM_001079911		Approved		uc003hqv.3	Q13316	OTTHUMG00000130598	ENST00000339673.6:c.1300C>A	4.37:g.88584230C>A	ENSP00000340935:p.Gln434Lys					DMP1_uc003hqw.2_Missense_Mutation_p.Q418K	p.Q434K	NM_004407	NP_004398	Q13316	DMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000516)	6	1404	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)	434					A1L4L3|O43265	Missense_Mutation	SNP	ENST00000339673.6	37	c.1300C>A	CCDS3623.1	.	.	.	.	.	.	.	.	.	.	C	6.863	0.528592	0.13127	.	.	ENSG00000152592	ENST00000339673;ENST00000282479	T;T	0.52057	0.68;0.68	5.4	1.57	0.23409	.	0.548537	0.17040	N	0.189364	T	0.42698	0.1214	M	0.72479	2.2	0.20403	N	0.999909	B;B	0.34181	0.386;0.44	B;B	0.31946	0.085;0.138	T	0.23119	-1.0197	10	0.37606	T	0.19	-1.6046	8.6987	0.34312	0.0:0.4753:0.4416:0.0831	.	418;434	Q13316-2;Q13316	.;DMP1_HUMAN	K	434;418	ENSP00000340935:Q434K;ENSP00000282479:Q418K	ENSP00000282479:Q418K	Q	+	1	0	DMP1	88803254	0.146000	0.22672	0.023000	0.16930	0.007000	0.05969	0.370000	0.20433	-0.028000	0.13850	0.591000	0.81541	CAG		0.547	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253047.1			43	78	1	0	6.1244e-12	0.007835	8.55223e-12	43	78				
GRID2	2895	broad.mit.edu	37	4	94693324	94693324	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:94693324T>C	ENST00000282020.4	+	16	2957	c.2699T>C	c.(2698-2700)aTt>aCt	p.I900T	GRID2_ENST00000510992.1_Missense_Mutation_p.I805T	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	900					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.I900T(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		ACCTCGTCAATTGATTTGACC	0.453																																							uc011cdt.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|large_intestine(1)	6						c.(2698-2700)ATT>ACT		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						177.0	167.0	170.0					4																	94693324		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94693324T>C	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2699T>C	4.37:g.94693324T>C	ENSP00000282020:p.Ile900Thr					GRID2_uc011cdu.1_Missense_Mutation_p.I805T	p.I900T	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	16	2957	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	900			Cytoplasmic (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.2699T>C	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	T	14.51	2.556426	0.45487	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.14144	2.57;2.53	5.42	5.42	0.78866	.	0.112588	0.64402	D	0.000011	T	0.12475	0.0303	L	0.32530	0.975	0.48511	D	0.999666	B;B	0.29037	0.231;0.231	B;B	0.21917	0.037;0.037	T	0.03818	-1.1001	10	0.54805	T	0.06	.	15.4652	0.75394	0.0:0.0:0.0:1.0	.	805;900	E9PH24;O43424	.;GRID2_HUMAN	T	900;805	ENSP00000282020:I900T;ENSP00000421257:I805T	ENSP00000282020:I900T	I	+	2	0	GRID2	94912347	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.845000	0.62853	2.047000	0.60756	0.528000	0.53228	ATT		0.453	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			59	108	0	0	0	0.00361	0	59	108				
ADH7	131	broad.mit.edu	37	4	100340162	100340162	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:100340162C>A	ENST00000209665.4	-	7	1218	c.978G>T	c.(976-978)tgG>tgT	p.W326C	ADH7_ENST00000437033.2_Missense_Mutation_p.W314C|ADH7_ENST00000476959.1_Missense_Mutation_p.W334C|ADH7_ENST00000482593.1_Missense_Mutation_p.W257C	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	326					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)	p.W326C(2)|p.W334C(2)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		CACATCCCTTCCATGTGCGTC	0.537																																							uc003huv.1		NA																	4	Substitution - Missense(4)		lung(4)	lung(2)|skin(1)	3						c.(976-978)TGG>TGT		class IV alcohol dehydrogenase, mu or sigma	NADH(DB00157)						136.0	113.0	121.0					4																	100340162		2203	4300	6503	SO:0001583	missense	131				ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	g.chr4:100340162C>A	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"""Alcohol dehydrogenases"""	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.978G>T	4.37:g.100340162C>A	ENSP00000209665:p.Trp326Cys						p.W326C	NM_000673	NP_000664	P40394	ADH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	7	1077	-			326					A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP	ENST00000209665.4	37	c.978G>T	CCDS34034.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416092	0.42817	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000482593;ENST00000476959	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	4.53	3.68	0.42216	Alcohol dehydrogenase, C-terminal (1);	0.057965	0.64402	D	0.000001	T	0.32436	0.0829	M	0.80746	2.51	0.80722	D	1	P	0.39352	0.669	P	0.44897	0.463	T	0.14254	-1.0479	10	0.87932	D	0	-26.4967	9.4452	0.38693	0.1625:0.6806:0.1569:0.0	.	326	P40394	ADH7_HUMAN	C	314;326;257;334	ENSP00000414254:W314C;ENSP00000209665:W326C;ENSP00000420613:W257C;ENSP00000420269:W334C	ENSP00000209665:W326C	W	-	3	0	ADH7	100559185	1.000000	0.71417	0.562000	0.28370	0.729000	0.41735	2.927000	0.48900	1.093000	0.41377	0.655000	0.94253	TGG		0.537	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000673		38	122	1	0	1.03484e-13	0.005524	1.50271e-13	38	122				
SPATA5	166378	broad.mit.edu	37	4	123868550	123868550	+	Missense_Mutation	SNP	C	C	T	rs201404410		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:123868550C>T	ENST00000274008.4	+	9	1690	c.1621C>T	c.(1621-1623)Ccc>Tcc	p.P541S	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	541					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.P541S(2)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TCGAAGGGTACCCCATTTGCT	0.493													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13906	0.0		0.0	False		,,,				2504	0.0						uc003iez.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1621-1623)CCC>TCC		spermatogenesis associated 5		C	SER/PRO	1,4405	2.1+/-5.4	0,1,2202	109.0	107.0	107.0		1621	5.6	0.1	4		107	0,8600		0,0,4300	yes	missense	SPATA5	NM_145207.2	74	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	541/894	123868550	1,13005	2203	4300	6503	SO:0001583	missense	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:123868550C>T	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.1621C>T	4.37:g.123868550C>T	ENSP00000274008:p.Pro541Ser					SPATA5_uc003iey.2_Missense_Mutation_p.P540S	p.P541S	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN			9	1694	+			541					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	ENST00000274008.4	37	c.1621C>T	CCDS3730.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	23.0	4.367607	0.82463	2.27E-4	0.0	ENSG00000145375	ENST00000274008	D	0.94828	-3.53	5.55	5.55	0.83447	.	0.117279	0.64402	D	0.000017	D	0.97034	0.9031	M	0.77103	2.36	0.52099	D	0.999948	P;D	0.58970	0.781;0.984	B;D	0.63793	0.358;0.918	D	0.96959	0.9700	10	0.56958	D	0.05	-15.3014	19.5056	0.95114	0.0:1.0:0.0:0.0	.	541;541	Q8NB90;Q8NB90-3	SPAT5_HUMAN;.	S	541	ENSP00000274008:P541S	ENSP00000274008:P541S	P	+	1	0	SPATA5	124088000	0.999000	0.42202	0.100000	0.21137	0.898000	0.52572	5.120000	0.64685	2.611000	0.88343	0.585000	0.79938	CCC		0.493	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		33	122	0	0	0	0.010818	0	33	122				
FAT4	79633	broad.mit.edu	37	4	126242381	126242381	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:126242381C>A	ENST00000394329.3	+	1	4828	c.4815C>A	c.(4813-4815)gaC>gaA	p.D1605E		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1605	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D1605E(4)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGCAACAGACCTTGGGCCTG	0.433																																							uc003ifj.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(4813-4815)GAC>GAA		FAT tumor suppressor homolog 4 precursor							131.0	135.0	133.0					4																	126242381		1998	4170	6168	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126242381C>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4815C>A	4.37:g.126242381C>A	ENSP00000377862:p.Asp1605Glu						p.D1605E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	4815	+			1605			Cadherin 15.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.4815C>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237735	0.58886	.	.	ENSG00000196159	ENST00000394329	T	0.80304	-1.36	4.34	3.49	0.39957	Cadherin (4);Cadherin-like (1);	0.000000	0.35585	U	0.003110	D	0.88235	0.6382	M	0.86573	2.825	0.80722	D	1	D	0.71674	0.998	D	0.64321	0.924	D	0.87894	0.2686	10	0.49607	T	0.09	.	9.4828	0.38911	0.0:0.7723:0.0:0.2277	.	1605	Q6V0I7	FAT4_HUMAN	E	1605	ENSP00000377862:D1605E	ENSP00000377862:D1605E	D	+	3	2	FAT4	126461831	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	1.498000	0.35660	1.182000	0.42928	0.650000	0.86243	GAC		0.433	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		60	170	1	0	3.21867e-24	0.00361	5.35791e-24	60	170				
ZNF827	152485	broad.mit.edu	37	4	146823920	146823920	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:146823920T>A	ENST00000508784.1	-	2	718	c.491A>T	c.(490-492)cAg>cTg	p.Q164L	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Missense_Mutation_p.Q164L			Q17R98	ZN827_HUMAN	zinc finger protein 827	164				Q -> R (in Ref. 2; BAC03591). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q164L(4)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ACTGAGCTGCTGGGCGTGGTG	0.537																																							uc003ikn.2		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(490-492)CAG>CTG		zinc finger protein 827							78.0	69.0	72.0					4																	146823920		2203	4300	6503	SO:0001583	missense	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146823920T>A	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.491A>T	4.37:g.146823920T>A	ENSP00000421863:p.Gln164Leu					ZNF827_uc003ikm.2_Missense_Mutation_p.Q164L|ZNF827_uc010iox.2_Intron	p.Q164L	NM_178835	NP_849157	Q17R98	ZN827_HUMAN			2	539	-	all_hematologic(180;0.151)		164	Q -> R (in Ref. 2; BAC03591).				B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37	c.491A>T		.	.	.	.	.	.	.	.	.	.	T	15.94	2.982464	0.53827	.	.	ENSG00000151612	ENST00000508784;ENST00000379448;ENST00000281318	T;T	0.10860	2.83;2.87	5.84	5.84	0.93424	.	0.049437	0.85682	D	0.000000	T	0.12347	0.0300	N	0.24115	0.695	0.52099	D	0.999943	B;P	0.36535	0.421;0.557	B;B	0.41764	0.202;0.366	T	0.05533	-1.0879	10	0.87932	D	0	-22.3883	16.2045	0.82114	0.0:0.0:0.0:1.0	.	164;164	Q17R98;Q17R98-2	ZN827_HUMAN;.	L	164;164;163	ENSP00000421863:Q164L;ENSP00000368761:Q164L	ENSP00000281318:Q163L	Q	-	2	0	ZNF827	147043370	1.000000	0.71417	0.999000	0.59377	0.854000	0.48673	7.625000	0.83145	2.234000	0.73211	0.459000	0.35465	CAG		0.537	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		39	109	0	0	0	0.011902	0	39	109				
RNF175	285533	broad.mit.edu	37	4	154631639	154631639	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:154631639C>G	ENST00000347063.4	-	9	1241	c.869G>C	c.(868-870)tGg>tCg	p.W290S		NM_173662.2	NP_775933	Q8N4F7	RN175_HUMAN	ring finger protein 175	290						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.W290S(1)|p.W291S(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				TGTGCGCTCCCAGCTAAATCT	0.378																																							uc003int.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(868-870)TGG>TCG		ring finger protein 175							71.0	64.0	66.0					4																	154631639		1874	4127	6001	SO:0001583	missense	285533					integral to membrane	zinc ion binding	g.chr4:154631639C>G	BC034385	CCDS47149.1	4q31.3	2008-02-05			ENSG00000145428	ENSG00000145428		"""RING-type (C3HC4) zinc fingers"""	27735	protein-coding gene	gene with protein product							Standard	NM_173662		Approved	FLJ34190	uc003int.3	Q8N4F7	OTTHUMG00000161557	ENST00000347063.4:c.869G>C	4.37:g.154631639C>G	ENSP00000340979:p.Trp290Ser						p.W290S	NM_173662	NP_775933	Q8N4F7	RN175_HUMAN			9	1242	-	all_hematologic(180;0.093)	Renal(120;0.118)	290					C9JL66|Q8NB61	Missense_Mutation	SNP	ENST00000347063.4	37	c.869G>C	CCDS47149.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.971184	0.34754	.	.	ENSG00000145428	ENST00000347063	T	0.63744	-0.06	4.26	2.48	0.30137	.	0.000000	0.64402	D	0.000002	T	0.80374	0.4611	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.82701	-0.0327	10	0.87932	D	0	-8.5527	11.2262	0.48886	0.3312:0.6688:0.0:0.0	.	290	Q8N4F7	RN175_HUMAN	S	290	ENSP00000340979:W290S	ENSP00000340979:W290S	W	-	2	0	RNF175	154851089	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.396000	0.52565	0.698000	0.31739	0.655000	0.94253	TGG		0.378	RNF175-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365286.1	NM_173662		3	16	0	0	0	0.004672	0	3	16				
TKTL2	84076	broad.mit.edu	37	4	164394546	164394546	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:164394546G>T	ENST00000280605.3	-	1	501	c.341C>A	c.(340-342)cCc>cAc	p.P114H		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	114						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.P114H(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CGGCAATCGGGGGGTAGGGTG	0.532																																							uc003iqp.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)|pancreas(1)	5						c.(340-342)CCC>CAC		transketolase-like 2							103.0	86.0	92.0					4																	164394546		2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164394546G>T	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.341C>A	4.37:g.164394546G>T	ENSP00000280605:p.Pro114His						p.P114H	NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN			1	502	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	114					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.341C>A	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.411703	0.25465	.	.	ENSG00000151005	ENST00000280605	T	0.25912	1.77	4.26	1.53	0.23141	Transketolase, N-terminal (1);	0.219147	0.39083	N	0.001479	T	0.44912	0.1316	M	0.80332	2.49	0.53688	D	0.999976	D	0.76494	0.999	D	0.76071	0.987	T	0.32666	-0.9898	10	0.87932	D	0	-7.9833	4.4534	0.11631	0.0891:0.154:0.5979:0.159	.	114	Q9H0I9	TKTL2_HUMAN	H	114	ENSP00000280605:P114H	ENSP00000280605:P114H	P	-	2	0	TKTL2	164613996	1.000000	0.71417	0.416000	0.26546	0.012000	0.07955	5.335000	0.65929	0.305000	0.22832	-0.225000	0.12378	CCC		0.532	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		32	81	1	0	4.40665e-25	0.009535	7.42601e-25	32	81				
TRIML1	339976	broad.mit.edu	37	4	189068316	189068316	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:189068316C>A	ENST00000332517.3	+	6	1337	c.1197C>A	c.(1195-1197)caC>caA	p.H399Q	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	399	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.H399Q(3)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AAGGTCAGCACGTCAGAGAGC	0.488																																					Melanoma(31;213 1036 16579 23968 32372)	Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)|pancreas(1)|breast(1)|skin(1)	4						c.(1195-1197)CAC>CAA		tripartite motif family-like 1							153.0	137.0	142.0					4																	189068316		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189068316C>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.1197C>A	4.37:g.189068316C>A	ENSP00000327738:p.His399Gln					TRIML1_uc003izn.1_Missense_Mutation_p.H123Q	p.H399Q	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	6	1312	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	399			B30.2/SPRY.		Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.1197C>A	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	c	8.758	0.922965	0.18056	.	.	ENSG00000184108	ENST00000332517	T	0.68181	-0.31	4.88	-1.95	0.07548	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.53938	D	0.000041	T	0.53738	0.1815	L	0.28608	0.87	0.09310	N	1	P	0.47910	0.902	P	0.47402	0.546	T	0.55379	-0.8150	10	0.29301	T	0.29	-24.5949	10.5415	0.45035	0.0:0.5936:0.0:0.4064	.	399	Q8N9V2	TRIML_HUMAN	Q	399	ENSP00000327738:H399Q	ENSP00000327738:H399Q	H	+	3	2	TRIML1	189305310	0.000000	0.05858	0.228000	0.23943	0.134000	0.20937	-1.618000	0.02049	-0.342000	0.08363	-0.413000	0.06143	CAC		0.488	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		74	161	1	0	2.10938e-32	0.00361	3.89095e-32	74	161				
FRG1	2483	broad.mit.edu	37	4	190876250	190876250	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:190876250G>T	ENST00000226798.4	+	5	598	c.376G>T	c.(376-378)Gtt>Ttt	p.V126F	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	126					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.V126F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TGGACTTGTTGTTGGGCGTTC	0.353																																							uc003izs.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(376-378)GTT>TTT		FSHD region gene 1							93.0	92.0	92.0					4																	190876250		2203	4300	6503	SO:0001583	missense	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190876250G>T	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.376G>T	4.37:g.190876250G>T	ENSP00000226798:p.Val126Phe						p.V126F	NM_004477	NP_004468	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	5	567	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	126					A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	c.376G>T	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	18.69	3.678656	0.68042	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.51071	1.88;0.72	4.04	4.04	0.47022	Actin cross-linking (1);	0.169740	0.52532	D	0.000079	T	0.66056	0.2751	M	0.82517	2.595	0.58432	D	0.999997	D	0.65815	0.995	D	0.75020	0.985	T	0.68096	-0.5499	10	0.51188	T	0.08	8.6176	8.114	0.30930	0.1141:0.0:0.8859:0.0	.	126	Q14331	FRG1_HUMAN	F	126;63	ENSP00000226798:V126F;ENSP00000435943:V63F	ENSP00000226798:V126F	V	+	1	0	FRG1	191113244	0.998000	0.40836	1.000000	0.80357	0.983000	0.72400	0.927000	0.28818	1.964000	0.57103	0.567000	0.79289	GTT		0.353	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		11	158	1	0	0.00010058	0.001368	0.000110274	11	158				
SLC6A18	348932	broad.mit.edu	37	5	1244882	1244882	+	Splice_Site	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:1244882C>T	ENST00000324642.3	+	11	1779	c.1656C>T	c.(1654-1656)taC>taT	p.Y552Y		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	552					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)	p.Y552Y(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACCCCAAATACGTAGGTCCTT	0.612																																							uc003jby.1		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(1)	1						c.(1654-1656)TAC>TAT		solute carrier family 6, member 18							67.0	66.0	66.0					5																	1244882		2203	4300	6503	SO:0001630	splice_region_variant	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1244882C>T	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1656+1C>T	5.37:g.1244882C>T							p.Y552Y	NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		11	1779	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		552			Extracellular (Potential).			Silent	SNP	ENST00000324642.3	37	c.1656C>T	CCDS3860.1																																																																																				0.612	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632	Silent	7	127	0	0	0	0.004482	0	7	127				
IRX4	50805	broad.mit.edu	37	5	1878835	1878835	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:1878835G>T	ENST00000505790.1	-	6	1264	c.808C>A	c.(808-810)Ccg>Acg	p.P270T	IRX4_ENST00000513692.1_Missense_Mutation_p.P270T|IRX4_ENST00000505938.1_5'Flank|IRX4_ENST00000231357.2_Missense_Mutation_p.P270T	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	270					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.P270T(1)		endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		CACGCCGGCGGCTCTGCTTCC	0.697																																							uc003jcz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(808-810)CCG>ACG		iroquois homeobox 4							22.0	24.0	23.0					5																	1878835		2202	4300	6502	SO:0001583	missense	50805				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:1878835G>T	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.808C>A	5.37:g.1878835G>T	ENSP00000423161:p.Pro270Thr					IRX4_uc011cmf.1_Missense_Mutation_p.P131T	p.P270T	NM_016358	NP_057442	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	5	927	-			270					B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Missense_Mutation	SNP	ENST00000505790.1	37	c.808C>A	CCDS3867.1	.	.	.	.	.	.	.	.	.	.	g	0.700	-0.791264	0.02884	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692	T;T;T	0.63744	-0.06;-0.06;-0.06	3.88	-7.39	0.01402	.	0.484707	0.20211	N	0.096902	T	0.26629	0.0651	N	0.08118	0	0.19575	N	0.999961	B	0.02656	0.0	B	0.01281	0.0	T	0.27536	-1.0071	10	0.14252	T	0.57	-6.6495	4.897	0.13755	0.102:0.0793:0.4985:0.3202	.	270	P78413	IRX4_HUMAN	T	270	ENSP00000231357:P270T;ENSP00000423161:P270T;ENSP00000424235:P270T	ENSP00000231357:P270T	P	-	1	0	IRX4	1931835	0.894000	0.30519	0.000000	0.03702	0.000000	0.00434	1.028000	0.30128	-1.183000	0.02723	-1.161000	0.01788	CCG		0.697	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		17	36	1	0	3.41278e-10	0.00499	4.47928e-10	17	36				
ADAMTS16	170690	broad.mit.edu	37	5	5239326	5239326	+	Silent	SNP	C	C	T	rs202019608		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:5239326C>T	ENST00000274181.7	+	15	2355	c.2217C>T	c.(2215-2217)aaC>aaT	p.N739N		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	739	Cys-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.N739N(4)		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						GGGTGTGTAACGGGAATAACT	0.512																																							uc003jdl.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(2215-2217)AAC>AAT		ADAM metallopeptidase with thrombospondin type 1		C		3,4121		0,3,2059	258.0	253.0	255.0		2217	0.4	0.6	5		255	2,8424		0,2,4211	no	coding-synonymous	ADAMTS16	NM_139056.2		0,5,6270	TT,TC,CC		0.0237,0.0727,0.0398		739/1225	5239326	5,12545	2062	4213	6275	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5239326C>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.2217C>T	5.37:g.5239326C>T						ADAMTS16_uc003jdk.1_Silent_p.N739N|ADAMTS16_uc010itk.1_RNA	p.N739N	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			15	2355	+			739			Cys-rich.		C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.2217C>T	CCDS43299.1																																																																																				0.512	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		64	418	0	0	0	0.00361	0	64	418				
PRDM9	56979	broad.mit.edu	37	5	23517995	23517995	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:23517995C>A	ENST00000296682.3	+	5	489	c.307C>A	c.(307-309)Cct>Act	p.P103T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	103					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.P103T(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TTTAGTCAAACCTCCTTGGAT	0.358										HNSCC(3;0.000094)																													uc003jgo.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(2)|pancreas(1)	6						c.(307-309)CCT>ACT		PR domain containing 9							195.0	184.0	187.0					5																	23517995		1882	4105	5987	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23517995C>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.307C>A	5.37:g.23517995C>A	ENSP00000296682:p.Pro103Thr	HNSCC(3;0.000094)					p.P103T	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			5	489	+			103					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.307C>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	1.199	-0.633170	0.03584	.	.	ENSG00000164256	ENST00000296682	T	0.08102	3.13	2.76	0.872	0.19113	.	.	.	.	.	T	0.05823	0.0152	L	0.50333	1.59	0.09310	N	1	P	0.43750	0.816	B	0.31547	0.132	T	0.34403	-0.9830	9	0.49607	T	0.09	-1.3307	3.1208	0.06391	0.2636:0.5845:0.0:0.152	.	103	Q9NQV7	PRDM9_HUMAN	T	103	ENSP00000296682:P103T	ENSP00000296682:P103T	P	+	1	0	PRDM9	23553752	0.001000	0.12720	0.003000	0.11579	0.022000	0.10575	0.118000	0.15605	0.217000	0.20800	0.436000	0.28706	CCT		0.358	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		54	214	1	0	6.3091e-27	0.00361	1.08668e-26	54	214				
PRDM9	56979	broad.mit.edu	37	5	23527675	23527675	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:23527675C>A	ENST00000296682.3	+	11	2660	c.2478C>A	c.(2476-2478)caC>caA	p.H826Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	826					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.H826Q(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAGGACACACACAGGGGAGA	0.582										HNSCC(3;0.000094)																													uc003jgo.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(2)|pancreas(1)	6						c.(2476-2478)CAC>CAA		PR domain containing 9							40.0	53.0	49.0					5																	23527675		2146	4271	6417	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527675C>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2478C>A	5.37:g.23527675C>A	ENSP00000296682:p.His826Gln	HNSCC(3;0.000094)					p.H826Q	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	2660	+			826			C2H2-type 12.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.2478C>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.567521	0.45694	.	.	ENSG00000164256	ENST00000296682	T	0.66995	-0.24	3.02	3.02	0.34903	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85526	0.5717	H	0.95504	3.68	0.46167	D	0.998909	D	0.89917	1.0	D	0.87578	0.998	D	0.89164	0.3532	9	0.87932	D	0	-2.2506	12.4022	0.55420	0.0:1.0:0.0:0.0	.	826	Q9NQV7	PRDM9_HUMAN	Q	826	ENSP00000296682:H826Q	ENSP00000296682:H826Q	H	+	3	2	PRDM9	23563432	1.000000	0.71417	1.000000	0.80357	0.193000	0.23685	1.818000	0.39012	2.038000	0.60285	0.472000	0.43445	CAC		0.582	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		71	285	1	0	5.88917e-42	0.00361	1.1443e-41	71	285				
SLC45A2	51151	broad.mit.edu	37	5	33954552	33954552	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:33954552G>A	ENST00000296589.4	-	4	1092	c.946C>T	c.(946-948)Cac>Tac	p.H316Y	SLC45A2_ENST00000382102.3_Missense_Mutation_p.H316Y|SLC45A2_ENST00000509381.1_Missense_Mutation_p.S207L|SLC45A2_ENST00000345083.5_Missense_Mutation_p.H208Y|SLC45A2_ENST00000342059.3_Missense_Mutation_p.H257Y	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	316					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.H316Y(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						TAGCGGTAGTGAGGAGGCATG	0.478																																					Ovarian(31;380 859 8490 22203 49048)	Ovarian(31;380 859 8490 22203 49048)	uc003jid.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(946-948)CAC>TAC		membrane-associated transporter protein isoform							234.0	168.0	190.0					5																	33954552		2203	4300	6503	SO:0001583	missense	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33954552G>A	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.946C>T	5.37:g.33954552G>A	ENSP00000296589:p.His316Tyr					SLC45A2_uc003jie.2_Missense_Mutation_p.H316Y|SLC45A2_uc003jif.3_Missense_Mutation_p.S207L|SLC45A2_uc011coe.1_Missense_Mutation_p.S207L	p.H316Y	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN			4	1038	-			316			Cytoplasmic (Potential).		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000296589.4	37	c.946C>T	CCDS3901.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.1|29.1	4.977304|4.977304	0.92982|0.92982	.|.	.|.	ENSG00000164175|ENSG00000164175	ENST00000296589;ENST00000342059;ENST00000382102;ENST00000510600;ENST00000345083|ENST00000509381	D;D;D;D;D|.	0.92647|.	-3.08;-3.08;-3.08;-3.08;-3.08|.	6.08|6.08	6.08|6.08	0.98989|0.98989	Major facilitator superfamily domain, general substrate transporter (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69061|0.69061	0.3069|0.3069	M|M	0.80028|0.80028	2.48|2.48	0.42809|0.42809	D|D	0.993952|0.993952	D;D|B	0.69078|0.28128	0.997;0.966|0.201	D;P|B	0.64042|0.22386	0.921;0.884|0.039	T|T	0.66204|0.66204	-0.5982|-0.5982	10|8	0.22109|0.15066	T|T	0.4|0.55	-24.5647|-24.5647	20.6634|20.6634	0.99662|0.99662	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	316;316|207	Q9UMX9-4;Q9UMX9|D6RGY6	.;S45A2_HUMAN|.	Y|L	316;257;316;141;208|207	ENSP00000296589:H316Y;ENSP00000341014:H257Y;ENSP00000371534:H316Y;ENSP00000424010:H141Y;ENSP00000340444:H208Y|.	ENSP00000296589:H316Y|ENSP00000421100:S207L	H|S	-|-	1|2	0|0	SLC45A2|SLC45A2	33990309|33990309	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.935000|0.935000	0.57460|0.57460	9.319000|9.319000	0.96338|0.96338	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	CAC|TCA		0.478	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		33	61	0	0	0	0.002836	0	33	61				
SKP2	6502	broad.mit.edu	37	5	36152975	36152975	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:36152975G>T	ENST00000274255.6	+	2	307	c.111G>T	c.(109-111)ggG>ggT	p.G37G	LMBRD2_ENST00000296603.4_5'Flank|SKP2_ENST00000274254.5_Silent_p.G37G|SKP2_ENST00000508514.1_Silent_p.G37G|SKP2_ENST00000546211.1_5'UTR|RNU6-1305P_ENST00000364353.1_RNA	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	37					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)	p.G37G(4)		breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGGCATGGGGGTCTCCGCCC	0.602																																							uc003jkc.1		NA																	4	Substitution - coding silent(4)		lung(4)	central_nervous_system(2)|ovary(1)|breast(1)	4						c.(109-111)GGG>GGT		S-phase kinase-associated protein 2 isoform 1							54.0	52.0	53.0					5																	36152975		2203	4300	6503	SO:0001819	synonymous_variant	6502				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr5:36152975G>T	U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"""F-boxes / Leucine-rich repeats"""	10901	protein-coding gene	gene with protein product		601436	"""S-phase kinase-associated protein 2 (p45)"""			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.111G>T	5.37:g.36152975G>T						SKP2_uc011cou.1_5'UTR|SKP2_uc003jkd.2_Silent_p.G37G|LMBRD2_uc003jkb.1_5'Flank	p.G37G	NM_005983	NP_005974	Q13309	SKP2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		2	293	+	all_lung(31;5.63e-05)		37					A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Silent	SNP	ENST00000274255.6	37	c.111G>T	CCDS3916.1																																																																																				0.602	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2	NM_005983		58	103	1	0	1.46156e-29	0.00361	2.60788e-29	58	103				
EGFLAM	133584	broad.mit.edu	37	5	38418193	38418194	+	Missense_Mutation	DNP	GG	GG	TC			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:38418193_38418194GG>TC	ENST00000354891.3	+	12	1866_1867	c.1520_1521GG>TC	c.(1519-1521)cGG>cTC	p.R507L	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000322350.5_Missense_Mutation_p.R507L|EGFLAM_ENST00000336740.6_Missense_Mutation_p.R273L	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	507	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.R507L(4)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ATTACTTTCCGGACACCTCTCT	0.45																																					Colon(62;485 1295 3347 17454)	Colon(62;485 1295 3347 17454)	uc003jlc.1		NA																	4	Substitution - Missense(4)		lung(4)	pancreas(3)|skin(3)|ovary(1)	7						c.(1519-1521)CGG>CTC		EGF-like, fibronectin type III and laminin G																																				SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38418193_38418194GG>TC	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	Exception_encountered	5.37:g.38418193_38418194delinsTC	ENSP00000346964:p.Arg507Leu					EGFLAM_uc003jlb.1_Missense_Mutation_p.R507L|EGFLAM_uc003jle.1_Missense_Mutation_p.R273L|EGFLAM_uc003jlf.1_Intron	p.R507L	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN			12	1844_1845	+	all_lung(31;0.000385)		507			Laminin G-like 1.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	DNP	ENST00000354891.3	37	c.1520_1521GG>TC	CCDS56363.1																																																																																				0.450	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		38	151	0	0	0	0.004672	0	38	151				
FGF10	2255	broad.mit.edu	37	5	44305247	44305247	+	Missense_Mutation	SNP	A	A	T	rs199643576		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:44305247A>T	ENST00000264664.4	-	3	591	c.477T>A	c.(475-477)aaT>aaA	p.N159K		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	159					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)	p.N159K(2)		haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					TATTGTATCCATTTTCCTCTA	0.378																																							uc003jog.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)	3						c.(475-477)AAT>AAA		fibroblast growth factor 10 precursor							224.0	198.0	207.0					5																	44305247		2203	4300	6503	SO:0001583	missense	2255				actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding	g.chr5:44305247A>T		CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.477T>A	5.37:g.44305247A>T	ENSP00000264664:p.Asn159Lys						p.N159K	NM_004465	NP_004456	O15520	FGF10_HUMAN			3	477	-	Lung NSC(6;1.12e-06)		159					C7FDY0|Q6FHR3|Q6FHT6|Q96P59	Missense_Mutation	SNP	ENST00000264664.4	37	c.477T>A	CCDS3950.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.868629	0.51588	.	.	ENSG00000070193	ENST00000264664	D	0.91351	-2.83	5.86	-0.982	0.10266	.	0.000000	0.85682	D	0.000000	D	0.95623	0.8577	H	0.94385	3.53	0.49130	D	0.999757	D	0.89917	1.0	D	0.91635	0.999	D	0.94089	0.7351	10	0.87932	D	0	.	10.606	0.45394	0.7074:0.0:0.2926:0.0	.	159	O15520	FGF10_HUMAN	K	159	ENSP00000264664:N159K	ENSP00000264664:N159K	N	-	3	2	FGF10	44341004	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	1.226000	0.32563	-0.404000	0.07610	-0.256000	0.11100	AAT		0.378	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253845.2	NM_004465		55	146	0	0	0	0.00361	0	55	146				
DHX29	54505	broad.mit.edu	37	5	54572988	54572988	+	Silent	SNP	T	T	C	rs376389364		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:54572988T>C	ENST00000251636.5	-	13	2380	c.2232A>G	c.(2230-2232)acA>acG	p.T744T	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	744	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)	p.T744T(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GTGTGAAATATGTAGAAAATT	0.363																																							uc003jpx.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2230-2232)ACA>ACG		DEAH (Asp-Glu-Ala-His) box polypeptide 29							74.0	77.0	76.0					5																	54572988		2203	4300	6503	SO:0001819	synonymous_variant	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54572988T>C	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.2232A>G	5.37:g.54572988T>C						DHX29_uc010ivw.2_RNA	p.T744T	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN			13	2352	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	744			Helicase ATP-binding.		O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Silent	SNP	ENST00000251636.5	37	c.2232A>G	CCDS34158.1																																																																																				0.363	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		35	107	0	0	0	0.005524	0	35	107				
HTR1A	3350	broad.mit.edu	37	5	63257347	63257347	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:63257347A>T	ENST00000323865.3	-	1	433	c.200T>A	c.(199-201)cTg>cAg	p.L67Q	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	67					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.L67Q(2)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CACGTTCTGCAGGGAGCGCTC	0.602																																							uc011cqt.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(2)	4						c.(199-201)CTG>CAG		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						58.0	63.0	61.0					5																	63257347		2203	4300	6503	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63257347A>T	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.200T>A	5.37:g.63257347A>T	ENSP00000316244:p.Leu67Gln						p.L67Q	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	200	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	67			Cytoplasmic (By similarity).		Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.200T>A	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	A	19.99	3.929646	0.73327	.	.	ENSG00000178394	ENST00000323865	T	0.52057	0.68	4.51	4.51	0.55191	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000001	T	0.81024	0.4737	H	0.99225	4.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88264	0.2925	10	0.87932	D	0	.	13.002	0.58681	1.0:0.0:0.0:0.0	.	67	P08908	5HT1A_HUMAN	Q	67	ENSP00000316244:L67Q	ENSP00000316244:L67Q	L	-	2	0	HTR1A	63293103	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	1.676000	0.50930	0.459000	0.35465	CTG		0.602	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		20	31	0	0	0	0.010504	0	20	31				
MCTP1	79772	broad.mit.edu	37	5	94224666	94224666	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:94224666C>A	ENST00000515393.1	-	12	1850	c.1851G>T	c.(1849-1851)agG>agT	p.R617S	MCTP1_ENST00000505078.1_Missense_Mutation_p.R133S|MCTP1_ENST00000312216.8_Missense_Mutation_p.R396S|MCTP1_ENST00000429576.2_Missense_Mutation_p.R350S|MCTP1_ENST00000505208.1_Missense_Mutation_p.R396S	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	617	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.R617S(2)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TGTGAAATATCCTCAATGGGC	0.423																																							uc003kkx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1849-1851)AGG>AGT		multiple C2 domains, transmembrane 1 isoform L							87.0	88.0	88.0					5																	94224666		2203	4300	6503	SO:0001583	missense	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94224666C>A		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.1851G>T	5.37:g.94224666C>A	ENSP00000424126:p.Arg617Ser					MCTP1_uc003kkv.2_Missense_Mutation_p.R396S|MCTP1_uc003kkw.2_Missense_Mutation_p.R350S|MCTP1_uc003kkz.2_Missense_Mutation_p.R278S|MCTP1_uc003kku.2_Missense_Mutation_p.R133S	p.R617S	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	12	1851	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	617			C2 3.		Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	37	c.1851G>T	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613097	0.46631	.	.	ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000505078;ENST00000312216;ENST00000508509;ENST00000512425;ENST00000505208;ENST00000506568	T;T;T;T;T;T;T;T	0.78003	-1.14;-0.84;-0.06;-1.01;-0.82;-0.96;-1.13;-0.74	5.65	2.44	0.29823	.	0.000000	0.85682	D	0.000000	T	0.63768	0.2539	L	0.57536	1.79	0.58432	D	0.999998	P;P;B	0.47762	0.745;0.9;0.433	B;B;B	0.39258	0.155;0.295;0.156	T	0.62835	-0.6770	10	0.07644	T	0.81	-13.9718	5.3032	0.15790	0.0:0.5141:0.1443:0.3417	.	617;350;396	Q6DN14;Q6DN14-3;Q6DN14-2	MCTP1_HUMAN;.;.	S	617;350;133;396;337;278;396;218	ENSP00000424126:R617S;ENSP00000391639:R350S;ENSP00000426417:R133S;ENSP00000308957:R396S;ENSP00000423410:R337S;ENSP00000431075:R278S;ENSP00000426438:R396S;ENSP00000426294:R218S	ENSP00000308957:R396S	R	-	3	2	MCTP1	94250422	0.999000	0.42202	0.999000	0.59377	0.993000	0.82548	0.712000	0.25779	0.863000	0.35553	0.655000	0.94253	AGG		0.423	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		39	53	1	0	5.04308e-16	0.00623	7.52328e-16	39	53				
TSLP	85480	broad.mit.edu	37	5	110407688	110407688	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:110407688T>A	ENST00000344895.3	+	1	299	c.100T>A	c.(100-102)Tgt>Agt	p.C34S	TSLP_ENST00000420978.2_Missense_Mutation_p.C34S|TSLP_ENST00000379706.4_5'Flank	NM_033035.4	NP_149024.1	Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	34						extracellular space (GO:0005615)		p.C34S(2)		breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		CTTCACTAACTGTGACTTTGA	0.348																																							uc003kpb.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(100-102)TGT>AGT		thymic stromal lymphopoietin isoform 1							149.0	141.0	144.0					5																	110407688		2202	4300	6502	SO:0001583	missense	85480					extracellular space	cytokine activity	g.chr5:110407688T>A	BC040592	CCDS4101.1	5q22.1	2007-08-24			ENSG00000145777	ENSG00000145777			30743	protein-coding gene	gene with protein product		607003				11418668, 11480573	Standard	NM_033035		Approved		uc003kpb.2	Q969D9	OTTHUMG00000128791	ENST00000344895.3:c.100T>A	5.37:g.110407688T>A	ENSP00000339804:p.Cys34Ser					TSLP_uc003kpa.2_RNA|TSLP_uc010jbt.1_5'Flank	p.C34S	NM_033035	NP_149024	Q969D9	TSLP_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)	1	299	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)	34					Q8IW99	Missense_Mutation	SNP	ENST00000344895.3	37	c.100T>A	CCDS4101.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.067822	0.76301	.	.	ENSG00000145777	ENST00000420978;ENST00000344895	.	.	.	5.71	5.71	0.89125	.	0.000000	0.53938	D	0.000046	T	0.65852	0.2731	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69105	-0.5233	9	0.87932	D	0	-16.919	12.3578	0.55186	0.0:0.0:0.0:1.0	.	34	Q969D9	TSLP_HUMAN	S	34	.	ENSP00000339804:C34S	C	+	1	0	TSLP	110435587	0.982000	0.34865	0.945000	0.38365	0.926000	0.56050	3.636000	0.54317	2.172000	0.68678	0.533000	0.62120	TGT		0.348	TSLP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250717.1	NM_033035		49	66	0	0	0	0.00361	0	49	66				
FAM170A	340069	broad.mit.edu	37	5	118968566	118968566	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:118968566G>T	ENST00000515256.1	+	2	366	c.194G>T	c.(193-195)cGc>cTc	p.R65L				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	65					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R65L(4)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						TCTTCTTCACGCAAGCTCATC	0.557																																							uc003ksm.2		NA																	4	Substitution - Missense(4)		lung(4)	skin(1)	1						c.(193-195)CGC>CTC		family with sequence similarity 170, member A							112.0	113.0	113.0					5																	118968566		2018	4182	6200	SO:0001583	missense	340069					intracellular	zinc ion binding	g.chr5:118968566G>T	AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.194G>T	5.37:g.118968566G>T	ENSP00000422684:p.Arg65Leu					FAM170A_uc003ksl.2_Missense_Mutation_p.R65L|FAM170A_uc003ksn.2_Missense_Mutation_p.R65L|FAM170A_uc003kso.2_Intron	p.R65L	NM_182761	NP_877438	A1A519	F170A_HUMAN			2	404	+			65					Q66LM8|Q7Z4V2|Q8IW94	Missense_Mutation	SNP	ENST00000515256.1	37	c.194G>T		.	.	.	.	.	.	.	.	.	.	G	0.014	-1.584196	0.00872	.	.	ENSG00000164334	ENST00000515256;ENST00000509264	T	0.29397	1.57	4.28	-8.57	0.00900	.	1.847980	0.02618	N	0.102895	T	0.17280	0.0415	L	0.36672	1.1	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.12734	-1.0536	9	.	.	.	3.886	1.1975	0.01877	0.423:0.1836:0.2082:0.1853	.	65;65	A1A519;A2VCN0	F170A_HUMAN;.	L	65	ENSP00000422684:R65L	.	R	+	2	0	FAM170A	118996465	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.546000	0.02188	-2.329000	0.00634	-0.768000	0.03414	CGC		0.557	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1	NM_182761		47	90	1	0	1.51926e-22	0.00361	2.48357e-22	47	90				
FBN2	2201	broad.mit.edu	37	5	127686687	127686687	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:127686687C>A	ENST00000508053.1	-	27	3659	c.2685G>T	c.(2683-2685)aaG>aaT	p.K895N	FBN2_ENST00000508989.1_Missense_Mutation_p.K862N|FBN2_ENST00000262464.4_Missense_Mutation_p.K895N			P35556	FBN2_HUMAN	fibrillin 2	895					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.K895N(4)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AACAGGTCCCCTTCAGGCTGT	0.493																																							uc003kuu.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(2683-2685)AAG>AAT		fibrillin 2 precursor							66.0	69.0	68.0					5																	127686687		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127686687C>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2685G>T	5.37:g.127686687C>A	ENSP00000424571:p.Lys895Asn					FBN2_uc003kuv.2_Missense_Mutation_p.K862N	p.K895N	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	21	3124	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	895					B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.2685G>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117756	0.56505	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.91124	-2.79;-2.79;-2.79	3.95	1.32	0.21799	Matrix fibril-associated (2);	0.081221	0.46442	D	0.000285	D	0.93109	0.7806	M	0.80183	2.485	0.43632	D	0.996026	D;P	0.69078	0.997;0.639	P;B	0.62813	0.907;0.187	D	0.90894	0.4763	10	0.62326	D	0.03	.	7.1981	0.25864	0.0:0.4309:0.0:0.5691	.	862;895	D6RJI3;P35556	.;FBN2_HUMAN	N	895;895;862	ENSP00000262464:K895N;ENSP00000424571:K895N;ENSP00000425596:K862N	ENSP00000262464:K895N	K	-	3	2	FBN2	127714586	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.074000	0.30703	0.264000	0.21851	-0.253000	0.11424	AAG		0.493	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		50	62	1	0	8.00217e-19	0.00361	1.25192e-18	50	62				
ACSL6	23305	broad.mit.edu	37	5	131323838	131323839	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:131323838_131323839CC>AA	ENST00000379240.1	-	7	811_812	c.658_659GG>TT	c.(658-660)GGc>TTc	p.G220F	ACSL6_ENST00000544770.1_Missense_Mutation_p.G129F|ACSL6_ENST00000379246.1_Missense_Mutation_p.G231F|ACSL6_ENST00000379249.3_Missense_Mutation_p.G220F|ACSL6_ENST00000379255.1_Missense_Mutation_p.G185F|ACSL6_ENST00000379272.2_Missense_Mutation_p.G235F|ACSL6_ENST00000357096.1_Missense_Mutation_p.G185F|ACSL6_ENST00000379264.2_Missense_Mutation_p.G245F|ACSL6_ENST00000431707.1_Missense_Mutation_p.G200F|ACSL6_ENST00000543479.1_Missense_Mutation_p.G220F|ACSL6_ENST00000296869.4_Missense_Mutation_p.G245F|ACSL6_ENST00000379244.1_Missense_Mutation_p.G220F			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	220					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)	p.G245F(4)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGCTTGAGGCCTGGAGTCTCC	0.564																																							uc010jdo.1		NA																	4	Substitution - Missense(4)		lung(4)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(658-660)GGC>TTC		acyl-CoA synthetase long-chain family member 6																																				SO:0001583	missense	23305				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr5:131323838_131323839CC>AA	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.658_659delinsAA	5.37:g.131323838_131323839delinsAA	ENSP00000368542:p.Gly220Phe					ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Missense_Mutation_p.G245F|ACSL6_uc003kvy.1_Missense_Mutation_p.G245F|ACSL6_uc003kwb.2_Missense_Mutation_p.G210F|ACSL6_uc003kvz.1_Missense_Mutation_p.G185F|ACSL6_uc003kwa.1_Missense_Mutation_p.G231F|ACSL6_uc010jdn.1_Missense_Mutation_p.G235F|ACSL6_uc010jdp.1_5'Flank	p.G220F	NM_015256	NP_056071	Q9UKU0	ACSL6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		7	741_742	-		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	220			Cytoplasmic (Potential).		J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	DNP	ENST00000379240.1	37	c.658_659GG>TT																																																																																					0.564	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256		153	240	0	0	0	0.004672	0	153	240				
PCDHGA5	56110	broad.mit.edu	37	5	140744233	140744233	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:140744233C>G	ENST00000518069.1	+	1	336	c.336C>G	c.(334-336)aaC>aaG	p.N112K	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	112	Cadherin 1. {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.N112K(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTTGAGAACAAAATGAAAA	0.443																																							uc003lju.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(334-336)AAC>AAG		protocadherin gamma subfamily A, 5 isoform 1							41.0	46.0	44.0					5																	140744233		2121	4268	6389	SO:0001583	missense	56110				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140744233C>G	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.336C>G	5.37:g.140744233C>G	ENSP00000429834:p.Asn112Lys					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_uc011das.1_Missense_Mutation_p.N112K	p.N112K	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	336	+			112			Cadherin 1.|Extracellular (Potential).		Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	c.336C>G	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	3.808	-0.040363	0.07497	.	.	ENSG00000253485	ENST00000518069	T	0.28255	1.62	5.38	2.74	0.32292	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.28830	0.0715	L	0.46947	1.48	0.22666	N	0.998878	P;B	0.35944	0.529;0.202	B;B	0.42030	0.373;0.215	T	0.19679	-1.0298	9	0.46703	T	0.11	.	4.8611	0.13585	0.1403:0.2069:0.0:0.6527	.	112;112	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	K	112	ENSP00000429834:N112K	ENSP00000429834:N112K	N	+	3	2	PCDHGA5	140724417	0.000000	0.05858	1.000000	0.80357	0.169000	0.22640	-0.402000	0.07223	1.001000	0.39076	-0.485000	0.04761	AAC		0.443	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		26	38	0	0	0	0.00333	0	26	38				
PCDHGB6	56100	broad.mit.edu	37	5	140789266	140789266	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:140789266G>T	ENST00000520790.1	+	1	1497	c.1497G>T	c.(1495-1497)ctG>ctT	p.L499L	PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	499	Cadherin 5. {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.L499L(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGAGCCCCTGGCGGTGTCGT	0.642																																							uc003lkj.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1495-1497)CTG>CTT		protocadherin gamma subfamily B, 6 isoform 1							20.0	23.0	22.0					5																	140789266		2024	4175	6199	SO:0001819	synonymous_variant	56100				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140789266G>T	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1497G>T	5.37:g.140789266G>T						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_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Silent_p.L499L	p.L499L	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1497	+			499			Extracellular (Potential).|Cadherin 5.		Q9Y5C5	Silent	SNP	ENST00000520790.1	37	c.1497G>T	CCDS54929.1																																																																																				0.642	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		14	32	1	0	4.3838e-07	0.001855	5.23754e-07	14	32				
GPR151	134391	broad.mit.edu	37	5	145895383	145895383	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:145895383C>T	ENST00000311104.2	-	1	370	c.294G>A	c.(292-294)gcG>gcA	p.A98A		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A98A(3)		endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTTGGAGTACGCCGTAGCTC	0.512																																					Pancreas(78;420 1386 18535 37114 49710)	Pancreas(78;420 1386 18535 37114 49710)	uc003lod.1		NA																	3	Substitution - coding silent(3)		lung(2)|urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(292-294)GCG>GCA		G protein-coupled receptor 151							120.0	118.0	119.0					5																	145895383		2203	4300	6503	SO:0001819	synonymous_variant	134391					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr5:145895383C>T	AY255557	CCDS34266.1	5q32	2012-08-21						"""GPCR / Class A : Orphans"""	23624	protein-coding gene	gene with protein product	"""galanin receptor 4"""					12679517	Standard	NM_194251		Approved	PGR7, GALR4	uc003lod.1	Q8TDV0		ENST00000311104.2:c.294G>A	5.37:g.145895383C>T							p.A98A	NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	294	-			98			Extracellular (Potential).		Q86SN8|Q8NGV2	Silent	SNP	ENST00000311104.2	37	c.294G>A	CCDS34266.1																																																																																				0.512	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373457.1	NM_194251		18	100	0	0	0	0.008871	0	18	100				
FAT2	2196	broad.mit.edu	37	5	150923125	150923125	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:150923125G>A	ENST00000261800.5	-	9	7575	c.7563C>T	c.(7561-7563)atC>atT	p.I2521I		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2521	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I2521I(2)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTAGTTTATTGATGATAGTAT	0.413																																							uc003lue.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(7561-7563)ATC>ATT		FAT tumor suppressor 2 precursor							120.0	124.0	123.0					5																	150923125		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150923125G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.7563C>T	5.37:g.150923125G>A						GM2A_uc011dcs.1_Intron	p.I2521I	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	7576	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2521			Extracellular (Potential).|Cadherin 22.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.7563C>T	CCDS4317.1																																																																																				0.413	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		48	172	0	0	0	0.00361	0	48	172				
FAT2	2196	broad.mit.edu	37	5	150948412	150948412	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:150948412G>T	ENST00000261800.5	-	1	93	c.81C>A	c.(79-81)tcC>tcA	p.S27S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	27					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S27S(2)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCAGAGGAGGAGAGAATCC	0.483																																							uc003lue.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(79-81)TCC>TCA		FAT tumor suppressor 2 precursor							100.0	101.0	101.0					5																	150948412		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150948412G>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.81C>A	5.37:g.150948412G>T						GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Silent_p.S27S	p.S27S	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	94	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	27			Extracellular (Potential).		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.81C>A	CCDS4317.1																																																																																				0.483	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		55	91	1	0	9.57592e-29	0.00361	1.69755e-28	55	91				
HAND1	9421	broad.mit.edu	37	5	153857373	153857373	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:153857373C>A	ENST00000231121.2	-	1	451	c.196G>T	c.(196-198)Gct>Tct	p.A66S		NM_004821.2	NP_004812.1	O96004	HAND1_HUMAN	heart and neural crest derivatives expressed 1	66	Poly-Ala.				angiogenesis (GO:0001525)|blastocyst development (GO:0001824)|cardiac left ventricle formation (GO:0003218)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cartilage morphogenesis (GO:0060536)|embryonic heart tube development (GO:0035050)|embryonic heart tube formation (GO:0003144)|heart development (GO:0007507)|heart looping (GO:0001947)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)|trophoblast giant cell differentiation (GO:0060707)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.A66S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GCGGCTGCAgcggccgcgggc	0.746																																							uc003lvn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(196-198)GCT>TCT		basic helix-loop-helix transcription factor							6.0	8.0	7.0					5																	153857373		1955	3941	5896	SO:0001583	missense	9421				angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis	cytoplasm|nucleolus|nucleoplasm	bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity	g.chr5:153857373C>A	AF061756	CCDS4327.1	5q33	2013-05-21			ENSG00000113196	ENSG00000113196		"""Basic helix-loop-helix proteins"""	4807	protein-coding gene	gene with protein product		602406				9337404, 9931445	Standard	NM_004821		Approved	eHand, Thing1, Hxt, bHLHa27	uc003lvn.3	O96004	OTTHUMG00000130193	ENST00000231121.2:c.196G>T	5.37:g.153857373C>A	ENSP00000231121:p.Ala66Ser						p.A66S	NM_004821	NP_004812	O96004	HAND1_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		1	452	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	66			Poly-Ala.			Missense_Mutation	SNP	ENST00000231121.2	37	c.196G>T	CCDS4327.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695192	0.30052	.	.	ENSG00000113196	ENST00000231121	D	0.95554	-3.74	3.32	3.32	0.38043	.	0.000000	0.41194	D	0.000940	D	0.85410	0.5690	N	0.08118	0	0.24048	N	0.996056	B	0.22146	0.065	B	0.15052	0.012	T	0.70357	-0.4894	10	0.05721	T	0.95	-8.0875	10.4374	0.44443	0.0:1.0:0.0:0.0	.	66	O96004	HAND1_HUMAN	S	66	ENSP00000231121:A66S	ENSP00000231121:A66S	A	-	1	0	HAND1	153837566	0.870000	0.30015	0.410000	0.26471	0.575000	0.36095	0.108000	0.15396	2.159000	0.67721	0.313000	0.20887	GCT		0.746	HAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252511.1	NM_004821		14	5	1	0	1.33834e-09	0.007413	1.72342e-09	14	5				
TIMD4	91937	broad.mit.edu	37	5	156376676	156376676	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:156376676A>C	ENST00000274532.2	-	4	802	c.746T>G	c.(745-747)cTg>cGg	p.L249R	TIMD4_ENST00000407087.3_Missense_Mutation_p.L249R	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	249	Ser-rich.					integral component of membrane (GO:0016021)		p.L249R(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGATGTCAGCAGGACAGTGTC	0.458																																							uc003lwh.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(745-747)CTG>CGG		T-cell immunoglobulin and mucin domain							99.0	79.0	85.0					5																	156376676		2203	4300	6503	SO:0001583	missense	91937					integral to membrane		g.chr5:156376676A>C	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.746T>G	5.37:g.156376676A>C	ENSP00000274532:p.Leu249Arg					TIMD4_uc010jii.2_Missense_Mutation_p.L249R	p.L249R	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		4	803	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	249			Ser-rich.|Extracellular (Potential).		B5MCL9	Missense_Mutation	SNP	ENST00000274532.2	37	c.746T>G	CCDS4332.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.812198	0.32053	.	.	ENSG00000145850	ENST00000274532;ENST00000407087	T;T	0.20069	2.1;2.11	3.84	0.137	0.14787	.	2.538600	0.01972	N	0.044189	T	0.24624	0.0597	L	0.29908	0.895	0.09310	N	1	D;D	0.54964	0.969;0.969	P;P	0.54060	0.741;0.741	T	0.09185	-1.0686	10	0.72032	D	0.01	0.0967	2.2161	0.03960	0.4491:0.0:0.3172:0.2336	.	249;249	B5MCL9;Q96H15	.;TIMD4_HUMAN	R	249	ENSP00000274532:L249R;ENSP00000385973:L249R	ENSP00000274532:L249R	L	-	2	0	TIMD4	156309254	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.082000	0.14847	0.017000	0.15025	-0.333000	0.08304	CTG		0.458	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		12	78	0	0	0	0.001855	0	12	78				
HAVCR2	84868	broad.mit.edu	37	5	156533775	156533775	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:156533775C>A	ENST00000307851.4	-	2	987	c.257G>T	c.(256-258)gGg>gTg	p.G86V	HAVCR2_ENST00000522593.1_Missense_Mutation_p.G86V|HAVCR2_ENST00000517358.1_5'UTR|CTB-120L21.1_ENST00000517708.1_RNA	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	86	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.G86V(2)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCGGAAATCCCCATTTAGCCA	0.488																																							uc003lwk.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(256-258)GGG>GTG		T cell immunoglobulin mucin 3 precursor							159.0	146.0	150.0					5																	156533775		2203	4300	6503	SO:0001583	missense	84868					integral to membrane		g.chr5:156533775C>A	AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"""Immunoglobulin superfamily / V-set domain containing"""	18437	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 3"""	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.257G>T	5.37:g.156533775C>A	ENSP00000312002:p.Gly86Val					HAVCR2_uc003lwl.2_Missense_Mutation_p.G86V	p.G86V	NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	401	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	86			Ig-like V-type.|Extracellular (Potential).		B2RAY2|Q8WW60|Q96K94	Missense_Mutation	SNP	ENST00000307851.4	37	c.257G>T	CCDS4333.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635408	0.67130	.	.	ENSG00000135077	ENST00000307851;ENST00000522593	T;T	0.65549	-0.16;-0.16	5.48	4.61	0.57282	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.413302	0.22716	N	0.056507	T	0.80586	0.4651	M	0.85373	2.75	0.80722	D	1	D;D	0.76494	0.999;0.999	P;D	0.69479	0.875;0.964	D	0.84370	0.0543	10	0.87932	D	0	-9.1409	15.547	0.76112	0.0:0.861:0.139:0.0	.	86;86	Q8TDQ0-2;Q8TDQ0	.;HAVR2_HUMAN	V	86	ENSP00000312002:G86V;ENSP00000430873:G86V	ENSP00000312002:G86V	G	-	2	0	HAVCR2	156466353	0.312000	0.24545	0.035000	0.18076	0.021000	0.10359	3.714000	0.54889	1.427000	0.47276	0.655000	0.94253	GGG		0.488	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252574.2			55	212	1	0	1.07234e-20	0.00361	1.71199e-20	55	212				
CYFIP2	26999	broad.mit.edu	37	5	156731349	156731349	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:156731349C>G	ENST00000521420.1	+	7	783	c.692C>G	c.(691-693)cCc>cGc	p.P231R	CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Missense_Mutation_p.P182R|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000377576.3_Missense_Mutation_p.P257R|CYFIP2_ENST00000318218.6_Missense_Mutation_p.P257R|CYFIP2_ENST00000347377.6_Missense_Mutation_p.P257R					cytoplasmic FMR1 interacting protein 2									p.P257R(6)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TACCTGACTCCCAGTGAGAAA	0.488																																							uc003lwq.2		NA																	6	Substitution - Missense(6)		lung(6)		0						c.(769-771)CCC>CGC		cytoplasmic FMR1 interacting protein 2							94.0	97.0	96.0					5																	156731349		2131	4255	6386	SO:0001583	missense	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156731349C>G	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.692C>G	5.37:g.156731349C>G	ENSP00000430904:p.Pro231Arg					CYFIP2_uc011ddn.1_Missense_Mutation_p.P231R|CYFIP2_uc011ddo.1_Intron|CYFIP2_uc003lwr.2_Missense_Mutation_p.P257R|CYFIP2_uc003lws.2_Missense_Mutation_p.P257R|CYFIP2_uc003lwt.2_Missense_Mutation_p.P135R|CYFIP2_uc011ddp.1_Intron|CYFIP2_uc003lwp.2_Missense_Mutation_p.P135R	p.P257R	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		10	908	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	257						Missense_Mutation	SNP	ENST00000521420.1	37	c.770C>G		.	.	.	.	.	.	.	.	.	.	C	26.4	4.736167	0.89482	.	.	ENSG00000055163	ENST00000318218;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.67458	0.2895	M	0.78049	2.395	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.972;1.0	D;D;D;D;D	0.97110	0.997;0.996;1.0;0.954;1.0	T	0.71537	-0.4563	10	0.66056	D	0.02	-26.1081	18.6986	0.91611	0.0:1.0:0.0:0.0	.	231;257;257;257;182	E7EVJ5;E7EVF4;Q96F07-2;Q96F07;B7Z4I3	.;.;.;CYFP2_HUMAN;.	R	257;231;257;257;182	ENSP00000325817:P257R;ENSP00000430904:P231R;ENSP00000313567:P257R;ENSP00000366799:P257R;ENSP00000444645:P182R	ENSP00000325817:P257R	P	+	2	0	CYFIP2	156663927	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	7.776000	0.85560	2.405000	0.81733	0.561000	0.74099	CCC		0.488	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		16	153	0	0	0	0.00499	0	16	153				
CCNJL	79616	broad.mit.edu	37	5	159680488	159680488	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:159680488T>C	ENST00000393977.3	-	7	1490	c.1205A>G	c.(1204-1206)cAt>cGt	p.H402R	CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Missense_Mutation_p.H354R	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	402						nucleus (GO:0005634)		p.H402R(2)		endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AATGGCCATATGCATGCTAAG	0.607																																							uc003lyb.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1204-1206)CAT>CGT		cyclin J-like							84.0	91.0	89.0					5																	159680488		2165	4257	6422	SO:0001583	missense	79616					nucleus		g.chr5:159680488T>C	BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.1205A>G	5.37:g.159680488T>C	ENSP00000377547:p.His402Arg					CCNJL_uc011dee.1_Missense_Mutation_p.H354R|CCNJL_uc003lyc.1_RNA	p.H402R	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	1457	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	402					Q6ZN43|Q9H7W8	Missense_Mutation	SNP	ENST00000393977.3	37	c.1205A>G	CCDS4350.2	.	.	.	.	.	.	.	.	.	.	T	11.11	1.541849	0.27563	.	.	ENSG00000135083	ENST00000393977;ENST00000257536	T;T	0.28895	2.0;1.59	5.44	5.44	0.79542	.	0.133302	0.52532	D	0.000080	T	0.17492	0.0420	N	0.08118	0	0.80722	D	1	B;B	0.21309	0.004;0.054	B;B	0.21360	0.012;0.034	T	0.08351	-1.0726	10	0.27785	T	0.31	-4.8946	13.7213	0.62728	0.0:0.0:0.0:1.0	.	354;402	B4DZA8;Q8IV13	.;CCNJL_HUMAN	R	402;354	ENSP00000377547:H402R;ENSP00000257536:H354R	ENSP00000257536:H354R	H	-	2	0	CCNJL	159613066	1.000000	0.71417	1.000000	0.80357	0.251000	0.25915	6.807000	0.75201	2.052000	0.61016	0.533000	0.62120	CAT		0.607	CCNJL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252674.1	NM_024565		98	88	0	0	0	0.00361	0	98	88				
GABRG2	2566	broad.mit.edu	37	5	161576140	161576140	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:161576140A>G	ENST00000361925.4	+	8	1169	c.949A>G	c.(949-951)Acc>Gcc	p.T317A	GABRG2_ENST00000414552.2_Missense_Mutation_p.T357A|GABRG2_ENST00000356592.3_Missense_Mutation_p.T317A|GABRG2_ENST00000393933.4_Missense_Mutation_p.T222A			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	317					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.T317A(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GACAATGACCACCCTCAGCAC	0.463																																							uc003lyz.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(949-951)ACC>GCC		gamma-aminobutyric acid A receptor, gamma 2							210.0	171.0	184.0					5																	161576140		2203	4300	6503	SO:0001583	missense	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161576140A>G		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.949A>G	5.37:g.161576140A>G	ENSP00000354651:p.Thr317Ala					GABRG2_uc010jjc.2_Missense_Mutation_p.T357A|GABRG2_uc003lyy.3_Missense_Mutation_p.T317A|GABRG2_uc011dej.1_Missense_Mutation_p.T222A	p.T317A	NM_000816	NP_000807	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	8	1307	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	317			Helical; (Probable).		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	c.949A>G	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	A	32	5.124132	0.94429	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02	5.73	5.73	0.89815	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.92041	0.7478	M	0.74258	2.255	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	0.92920	0.6354	10	0.87932	D	0	.	16.0189	0.80464	1.0:0.0:0.0:0.0	.	357;317;317	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	A	317;357;317;222;222	ENSP00000349000:T317A;ENSP00000410732:T357A;ENSP00000354651:T317A;ENSP00000377510:T222A;ENSP00000430182:T222A	ENSP00000349000:T317A	T	+	1	0	GABRG2	161508718	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.228000	0.95250	2.183000	0.69458	0.528000	0.53228	ACC		0.463	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			14	210	0	0	0	0.00245	0	14	210				
SLIT3	6586	broad.mit.edu	37	5	168201305	168201305	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:168201305C>A	ENST00000519560.1	-	13	1649	c.1230G>T	c.(1228-1230)ctG>ctT	p.L410L	SLIT3_ENST00000332966.8_Silent_p.L410L|SLIT3_ENST00000404867.3_Silent_p.L410L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	410					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.L410L(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTTGTCATACAGGGAGAGCA	0.567																																					Ovarian(29;311 847 10864 17279 24903)	Ovarian(29;311 847 10864 17279 24903)	uc003mab.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(1)	4						c.(1228-1230)CTG>CTT		slit homolog 3 precursor							244.0	230.0	235.0					5																	168201305		2203	4300	6503	SO:0001819	synonymous_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168201305C>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1230G>T	5.37:g.168201305C>A						SLIT3_uc010jjg.2_Silent_p.L410L|SLIT3_uc010jji.2_Silent_p.L410L|SLIT3_uc003mac.1_Silent_p.L207L	p.L410L	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		13	1650	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	410			LRR 11.		A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.1230G>T	CCDS4369.1																																																																																				0.567	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		243	355	1	0	1.6475e-97	0.00361	3.43335e-97	243	355				
LCP2	3937	broad.mit.edu	37	5	169697832	169697832	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:169697832G>T	ENST00000046794.5	-	7	1029	c.414C>A	c.(412-414)ccC>ccA	p.P138P		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	138					blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)		p.P138P(6)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		CATCTTCCACGGGTGCCTCTT	0.547																																							uc003man.1		NA																	6	Substitution - coding silent(6)		lung(6)	ovary(1)	1						c.(412-414)CCC>CCA		lymphocyte cytosolic protein 2							86.0	105.0	99.0					5																	169697832		2146	4246	6392	SO:0001819	synonymous_variant	3937				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding	g.chr5:169697832G>T		CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"""SH2 domain containing"""	6529	protein-coding gene	gene with protein product	"""76 kDa tyrosine phosphoprotein"", ""SH2 domain-containing leukocyte protein of 76kD"""	601603	"""lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"""	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.414C>A	5.37:g.169697832G>T						LCP2_uc011det.1_5'UTR|LCP2_uc010jjo.1_5'Flank	p.P138P	NM_005565	NP_005556	Q13094	LCP2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)	7	621	-	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	138					A8KA25|Q53XV4	Silent	SNP	ENST00000046794.5	37	c.414C>A	CCDS47339.1																																																																																				0.547	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371727.1	NM_005565		26	107	1	0	8.58068e-18	0.007291	1.32721e-17	26	107				
SLC34A1	6569	broad.mit.edu	37	5	176813237	176813237	+	Missense_Mutation	SNP	C	C	A	rs199844043	byFrequency	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:176813237C>A	ENST00000324417.5	+	4	366	c.275C>A	c.(274-276)cCc>cAc	p.P92H	SLC34A1_ENST00000512593.1_Missense_Mutation_p.P92H	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	92					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)	p.P92H(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGCTGGTCCCCAAGCTGCGC	0.662																																							uc003mgk.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(274-276)CCC>CAC		solute carrier family 34 (sodium phosphate),							83.0	75.0	78.0					5																	176813237		2203	4299	6502	SO:0001583	missense	6569				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr5:176813237C>A	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.275C>A	5.37:g.176813237C>A	ENSP00000321424:p.Pro92His						p.P92H	NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	376	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	92			Cytoplasmic (Potential).		B4DPE3	Missense_Mutation	SNP	ENST00000324417.5	37	c.275C>A	CCDS4418.1	.	.	.	.	.	.	.	.	.	.	C	5.693	0.312432	0.10789	.	.	ENSG00000131183	ENST00000504577;ENST00000512593;ENST00000324417	T;T	0.43294	0.95;1.56	5.59	1.81	0.25067	.	0.998881	0.08102	N	0.997561	T	0.21347	0.0514	N	0.08118	0	0.09310	N	1	B	0.32203	0.36	B	0.27608	0.081	T	0.17501	-1.0367	10	0.42905	T	0.14	-13.6354	6.5821	0.22600	0.573:0.3443:0.0827:0.0	.	92	Q06495	NPT2A_HUMAN	H	92	ENSP00000423022:P92H;ENSP00000321424:P92H	ENSP00000321424:P92H	P	+	2	0	SLC34A1	176745843	0.011000	0.17503	0.420000	0.26596	0.002000	0.02628	-0.203000	0.09438	0.445000	0.26639	0.561000	0.74099	CCC		0.662	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052		64	103	1	0	3.13296e-38	0.00361	6.02323e-38	64	103				
EXOC2	55770	broad.mit.edu	37	6	549257	549257	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:549257C>G	ENST00000230449.4	-	22	2291	c.2156G>C	c.(2155-2157)tGc>tCc	p.C719S	EXOC2_ENST00000448181.3_Missense_Mutation_p.C314S	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	719					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.C719S(2)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTCTAGATAGCAGCAATTACT	0.373																																							uc003mtd.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(4)|ovary(2)|pancreas(1)	7						c.(2155-2157)TGC>TCC		Sec5 protein							163.0	157.0	159.0					6																	549257		2203	4300	6503	SO:0001583	missense	55770				exocytosis|protein transport			g.chr6:549257C>G	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.2156G>C	6.37:g.549257C>G	ENSP00000230449:p.Cys719Ser					EXOC2_uc003mte.2_Missense_Mutation_p.C719S|EXOC2_uc011dho.1_Missense_Mutation_p.C314S	p.C719S	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	22	2290	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	719					B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	c.2156G>C	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.276151	0.23307	.	.	ENSG00000112685	ENST00000230449;ENST00000448181	T;T	0.20738	2.05;2.05	5.41	5.41	0.78517	.	0.205326	0.52532	D	0.000068	T	0.03390	0.0098	N	0.08118	0	0.32850	D	0.506504	B	0.02656	0.0	B	0.01281	0.0	T	0.28808	-1.0032	10	0.07813	T	0.8	-2.4688	12.5287	0.56102	0.0:0.9237:0.0:0.0763	.	719	Q96KP1	EXOC2_HUMAN	S	719;314	ENSP00000230449:C719S;ENSP00000398113:C314S	ENSP00000230449:C719S	C	-	2	0	EXOC2	494257	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.124000	0.64709	2.515000	0.84797	0.655000	0.94253	TGC		0.373	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		52	148	0	0	0	0.00361	0	52	148				
HUS1B	135458	broad.mit.edu	37	6	656317	656317	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:656317G>A	ENST00000380907.2	-	1	646	c.628C>T	c.(628-630)Cct>Tct	p.P210S	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	210					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)	checkpoint clamp complex (GO:0030896)|nucleolus (GO:0005730)		p.P210S(2)		endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GACTGGGGAGGGTTTCCAAGA	0.517																																							uc003mtg.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(628-630)CCT>TCT		HUS1 checkpoint protein B							108.0	119.0	115.0					6																	656317		2203	4300	6503	SO:0001583	missense	135458							g.chr6:656317G>A	AF508547	CCDS4470.1	6p25.3	2008-08-08	2001-11-28		ENSG00000188996	ENSG00000188996			16485	protein-coding gene	gene with protein product		609713	"""HUS1 (S. pombe) checkpoint homolog b"""			11944979	Standard	NM_148959		Approved		uc003mtg.3	Q8NHY5	OTTHUMG00000090059	ENST00000380907.2:c.628C>T	6.37:g.656317G>A	ENSP00000370293:p.Pro210Ser					EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron	p.P210S	NM_148959	NP_683762	Q8NHY5	HUS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)	1	648	-	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	210					Q5T4Z2	Missense_Mutation	SNP	ENST00000380907.2	37	c.628C>T	CCDS4470.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.108607	0.56291	.	.	ENSG00000188996	ENST00000380907	T	0.13420	2.59	3.73	2.85	0.33270	.	0.000000	0.64402	U	0.000001	T	0.16981	0.0408	M	0.77486	2.375	0.53005	D	0.999968	D	0.61697	0.99	P	0.61201	0.885	T	0.03121	-1.1070	10	0.29301	T	0.29	.	7.2156	0.25957	0.1259:0.0:0.8741:0.0	.	210	Q8NHY5	HUS1B_HUMAN	S	210	ENSP00000370293:P210S	ENSP00000370293:P210S	P	-	1	0	HUS1B	601317	1.000000	0.71417	0.245000	0.24217	0.115000	0.19883	4.881000	0.63114	0.916000	0.36871	-0.136000	0.14681	CCT		0.517	HUS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205617.2	NM_148959		73	249	0	0	0	0.00361	0	73	249				
TBC1D7	51256	broad.mit.edu	37	6	13321220	13321220	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:13321220C>A	ENST00000379300.3	-	4	544	c.301G>T	c.(301-303)Gcc>Tcc	p.A101S	TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000379307.2_Missense_Mutation_p.A74S|TBC1D7_ENST00000356436.4_Missense_Mutation_p.A101S|TBC1D7_ENST00000343141.4_Missense_Mutation_p.A101S|TBC1D7_ENST00000607658.1_Missense_Mutation_p.A74S	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	101	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of Rho GTPase activity (GO:0032862)|negative regulation of cilium assembly (GO:1902018)|negative regulation of TOR signaling (GO:0032007)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of Rab GTPase activity (GO:0032851)|response to growth factor (GO:0070848)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.A101S(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			TGAGGTGTGGCATCACTAACA	0.502																																							uc003naj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(301-303)GCC>TCC		TBC1 domain family, member 7 isoform a							282.0	245.0	258.0					6																	13321220		2203	4300	6503	SO:0001583	missense	51256				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity	g.chr6:13321220C>A	AF151073	CCDS4523.1, CCDS47376.1, CCDS58995.1	6p23	2013-07-10			ENSG00000145979	ENSG00000145979			21066	protein-coding gene	gene with protein product		612655				11042152, 17646400	Standard	XM_005249163		Approved	dJ257A7.3, FLJ32666	uc003nan.3	Q9P0N9	OTTHUMG00000014272	ENST00000379300.3:c.301G>T	6.37:g.13321220C>A	ENSP00000368602:p.Ala101Ser					TBC1D7_uc011dis.1_RNA|TBC1D7_uc003nan.2_Missense_Mutation_p.A101S|TBC1D7_uc003nal.2_Missense_Mutation_p.A101S|TBC1D7_uc003nam.2_Missense_Mutation_p.A101S|TBC1D7_uc003nao.2_Missense_Mutation_p.A74S|TBC1D7_uc010jpd.2_Missense_Mutation_p.A101S|TBC1D7_uc003nap.2_Missense_Mutation_p.A74S|TBC1D7_uc003naq.2_Missense_Mutation_p.A74S	p.A101S	NM_016495	NP_057579	Q9P0N9	TBCD7_HUMAN	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)		4	392	-	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	101			Rab-GAP TBC.		E7EV96|Q2TU37|Q53F44|Q5SZL7|Q86VM8|Q96MB8	Missense_Mutation	SNP	ENST00000379300.3	37	c.301G>T	CCDS4523.1	.	.	.	.	.	.	.	.	.	.	C	6.550	0.469707	0.12461	.	.	ENSG00000145979	ENST00000334971;ENST00000421203;ENST00000356436;ENST00000379300;ENST00000379307;ENST00000343141;ENST00000452989;ENST00000450347;ENST00000422136;ENST00000446018;ENST00000420456;ENST00000428109;ENST00000416436;ENST00000379291	T;T;T;T;T;T;T;T;T;T;T;T;T	0.41758	2.33;2.33;2.33;1.59;1.56;1.59;1.59;2.33;1.58;1.6;2.33;2.33;0.99	5.85	0.465	0.16711	Rab-GAP/TBC domain (1);	0.195694	0.56097	D	0.000029	T	0.04137	0.0115	N	0.05230	-0.09	0.24376	N	0.994813	B;B;B;B;B	0.06786	0.0;0.001;0.001;0.001;0.0	B;B;B;B;B	0.13407	0.003;0.004;0.003;0.009;0.002	T	0.41734	-0.9492	10	0.02654	T	1	-0.7637	5.6625	0.17676	0.17:0.5094:0.0:0.3207	.	101;74;74;74;101	Q2TU37;Q5JPB9;Q5SZL5;Q9P0N9-2;Q9P0N9	.;.;.;.;TBCD7_HUMAN	S	42;101;101;101;74;101;74;74;101;74;74;101;101;101	ENSP00000401438:A101S;ENSP00000348813:A101S;ENSP00000368602:A101S;ENSP00000368609:A74S;ENSP00000343100:A101S;ENSP00000414292:A74S;ENSP00000404680:A74S;ENSP00000394425:A101S;ENSP00000417005:A74S;ENSP00000412102:A74S;ENSP00000414101:A101S;ENSP00000401339:A101S;ENSP00000368593:A101S	ENSP00000334212:A42S	A	-	1	0	TBC1D7	13429199	0.859000	0.29813	0.364000	0.25888	0.949000	0.60115	1.761000	0.38440	0.118000	0.18165	0.555000	0.69702	GCC		0.502	TBC1D7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039896.2	NM_016495		126	244	1	0	6.14665e-45	0.00361	1.21158e-44	126	244				
ABHD16A	7920	broad.mit.edu	37	6	31671050	31671050	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:31671050C>A	ENST00000395952.3	-	1	171	c.9G>T	c.(7-9)aaG>aaT	p.K3N	MIR4646_ENST00000580775.1_RNA|ABHD16A_ENST00000538874.1_5'UTR|ABHD16A_ENST00000375842.4_5'Flank|ABHD16A_ENST00000440843.2_5'Flank|XXbac-BPG32J3.20_ENST00000461287.1_Intron	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	3						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.K3N(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						AGCTCAGCAGCTTCGCCATGG	0.682																																							uc003nvy.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(7-9)AAG>AAT		HLA-B associated transcript 5							12.0	14.0	13.0					6																	31671050		2177	4281	6458	SO:0001583	missense	7920					integral to membrane	hydrolase activity|protein binding	g.chr6:31671050C>A	AF129756	CCDS4713.1, CCDS54988.1	6p21.3	2013-01-17	2010-12-09	2010-12-09	ENSG00000204427	ENSG00000204427		"""Abhydrolase domain containing"""	13921	protein-coding gene	gene with protein product		142620	"""HLA-B associated transcript 5"""	BAT5		2911734, 2813433	Standard	NM_021160		Approved	NG26, D6S82E	uc003nvy.2	O95870	OTTHUMG00000031177	ENST00000395952.3:c.9G>T	6.37:g.31671050C>A	ENSP00000379282:p.Lys3Asn					BAT5_uc003nvx.1_5'Flank|BAT5_uc011dny.1_5'Flank|BAT5_uc003nvz.1_5'UTR|BAT5_uc011dnz.1_Intron|BAT5_uc010jtc.1_RNA|BAT5_uc011doa.1_5'UTR	p.K3N	NM_021160	NP_066983	O95870	ABHGA_HUMAN			1	39	-			3					A2BEY3|B7Z4R6|Q5SRR1|Q5SRR2|Q8WYH0|Q9NW33	Missense_Mutation	SNP	ENST00000395952.3	37	c.9G>T	CCDS4713.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.394788	0.62066	.	.	ENSG00000204427	ENST00000395952	.	.	.	5.19	5.19	0.71726	.	0.409334	0.26418	N	0.024494	T	0.58963	0.2159	L	0.43152	1.355	0.80722	D	1	P	0.51653	0.947	D	0.67231	0.95	T	0.54390	-0.8301	9	0.31617	T	0.26	-25.835	14.5555	0.68097	0.0:1.0:0.0:0.0	.	3	O95870	ABHGA_HUMAN	N	3	.	ENSP00000379282:K3N	K	-	3	2	ABHD16A	31779029	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.730000	0.55006	2.595000	0.87683	0.407000	0.27541	AAG		0.682	ABHD16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076342.4			15	30	1	0	2.32078e-09	0.003163	2.96063e-09	15	30				
HSPA1L	3305	broad.mit.edu	37	6	31779674	31779674	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:31779674C>G	ENST00000375654.4	-	2	265	c.76G>C	c.(76-78)Ggc>Cgc	p.G26R	HSPA1L_ENST00000417199.3_Missense_Mutation_p.G26R	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	26					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)	p.G26R(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TCCACCTTGCCGTGCTGGAAC	0.607																																							uc003nxh.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|pleura(1)|kidney(1)|skin(1)	6						c.(76-78)GGC>CGC		heat shock 70kDa protein 1-like							96.0	78.0	84.0					6																	31779674		2203	4300	6503	SO:0001583	missense	3305				response to unfolded protein		ATP binding	g.chr6:31779674C>G	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.76G>C	6.37:g.31779674C>G	ENSP00000364805:p.Gly26Arg					HSPA1L_uc010jte.2_Missense_Mutation_p.G26R	p.G26R	NM_005527	NP_005518	P34931	HS71L_HUMAN			2	259	-			26					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	c.76G>C	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000970	0.54254	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653;ENST00000424494	T;T	0.05996	3.36;3.36	4.52	4.52	0.55395	.	.	.	.	.	T	0.27524	0.0676	H	0.95224	3.64	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.41662	-0.9496	9	0.87932	D	0	.	14.7802	0.69760	0.0:1.0:0.0:0.0	.	26	P34931	HS71L_HUMAN	R	26;26;26;23	ENSP00000364805:G26R;ENSP00000387691:G26R	ENSP00000364804:G26R	G	-	1	0	HSPA1L	31887653	1.000000	0.71417	1.000000	0.80357	0.354000	0.29330	7.574000	0.82434	2.317000	0.78254	0.460000	0.39030	GGC		0.607	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			35	134	0	0	0	0.003271	0	35	134				
SYNGAP1	8831	broad.mit.edu	37	6	33400564	33400564	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:33400564C>T	ENST00000418600.2	+	5	591	c.490C>T	c.(490-492)Cga>Tga	p.R164*	SYNGAP1_ENST00000293748.5_Nonsense_Mutation_p.R164*|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Nonsense_Mutation_p.R105*	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	164	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)	p.R149*(1)|p.R164*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GCCTCGCTTCCGAAGTGCTGA	0.547																																							uc011dri.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(4)	4						c.(490-492)CGA>TGA		synaptic Ras GTPase activating protein 1							76.0	63.0	67.0					6																	33400564		2203	4300	6503	SO:0001587	stop_gained	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33400564C>T	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.490C>T	6.37:g.33400564C>T	ENSP00000403636:p.Arg164*					SYNGAP1_uc003oeo.1_Nonsense_Mutation_p.R149*|SYNGAP1_uc010juy.2_Nonsense_Mutation_p.R149*	p.R164*	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN			5	685	+			164			PH.		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Nonsense_Mutation	SNP	ENST00000418600.2	37	c.490C>T	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	C	34	5.345182	0.95807	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	.	.	.	4.36	3.49	0.39957	.	0.636467	0.15060	U	0.282805	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1139	0.42579	0.0:0.9007:0.0:0.0993	.	.	.	.	X	164;164;164;105	.	ENSP00000293748:R164X	R	+	1	2	SYNGAP1	33508542	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.294000	0.51787	1.062000	0.40625	0.467000	0.42956	CGA		0.547	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		5	77	0	0	0	0.000602	0	5	77				
GRM4	2914	broad.mit.edu	37	6	34008522	34008522	+	Missense_Mutation	SNP	C	C	T	rs374647710		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:34008522C>T	ENST00000538487.2	-	7	1615	c.1172G>A	c.(1171-1173)cGt>cAt	p.R391H	GRM4_ENST00000609222.1_Missense_Mutation_p.R258H|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000455714.2_Missense_Mutation_p.R251H|GRM4_ENST00000544773.2_Missense_Mutation_p.R222H|GRM4_ENST00000535756.1_Missense_Mutation_p.R258H|GRM4_ENST00000374177.3_Missense_Mutation_p.R275H|GRM4_ENST00000374181.4_Missense_Mutation_p.R391H	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	391					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AATTCGCTCACGGTCTGCAAT	0.597																																							uc003oir.3		NA																	0				lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6						c.(1171-1173)CGT>CAT		glutamate receptor, metabotropic 4 precursor	L-Glutamic Acid(DB00142)	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	160.0	124.0	136.0		1172	4.3	0.9	6		136	0,8600		0,0,4300	no	missense	GRM4	NM_000841.1	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	391/913	34008522	1,13005	2203	4300	6503	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34008522C>T	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.1172G>A	6.37:g.34008522C>T	ENSP00000440556:p.Arg391His					GRM4_uc011dsn.1_Missense_Mutation_p.R344H|GRM4_uc010jvh.2_Missense_Mutation_p.R391H|GRM4_uc010jvi.2_Missense_Mutation_p.R83H|GRM4_uc003oio.2_Missense_Mutation_p.R83H|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Missense_Mutation_p.R251H|GRM4_uc003oiq.2_Missense_Mutation_p.R258H|GRM4_uc011dsm.1_Missense_Mutation_p.R222H	p.R391H	NM_000841	NP_000832	Q14833	GRM4_HUMAN			6	1342	-			391			Extracellular (Potential).		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.1172G>A	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.369050	0.24771	2.27E-4	0.0	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.85955	-2.05;-1.62;-2.05;-2.05;-2.05;-2.05;-2.05	4.29	4.29	0.51040	Extracellular ligand-binding receptor (1);	0.144833	0.47852	D	0.000220	T	0.60805	0.2297	N	0.08118	0	0.35546	D	0.803456	B;B;B;B;B	0.26081	0.007;0.017;0.025;0.141;0.014	B;B;B;B;B	0.16289	0.009;0.015;0.007;0.013;0.013	T	0.64041	-0.6500	10	0.49607	T	0.09	.	16.9212	0.86165	0.0:1.0:0.0:0.0	.	344;222;251;391;258	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	H	391;275;83;258;222;391;251	ENSP00000363296:R391H;ENSP00000363292:R275H;ENSP00000445533:R83H;ENSP00000437925:R258H;ENSP00000437730:R222H;ENSP00000440556:R391H;ENSP00000398456:R251H	ENSP00000363292:R275H	R	-	2	0	GRM4	34116500	1.000000	0.71417	0.946000	0.38457	0.938000	0.57974	5.220000	0.65267	2.205000	0.71048	0.305000	0.20034	CGT		0.597	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			4	103	0	0	0	0.009096	0	4	103				
DNAH8	1769	broad.mit.edu	37	6	38791356	38791356	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:38791356C>A	ENST00000359357.3	+	26	3342	c.3088C>A	c.(3088-3090)Ccc>Acc	p.P1030T	DNAH8_ENST00000449981.2_Missense_Mutation_p.P1247T|SNORA8_ENST00000391284.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.P1030T			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1030					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P1030T(4)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGCTAACAACCCCTCTCTGAC	0.318																																							uc003ooe.1		NA																	4	Substitution - Missense(4)		lung(4)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(3088-3090)CCC>ACC		dynein, axonemal, heavy polypeptide 8							89.0	90.0	90.0					6																	38791356		2202	4299	6501	SO:0001583	missense	1769							g.chr6:38791356C>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.3088C>A	6.37:g.38791356C>A	ENSP00000352312:p.Pro1030Thr						p.P1030T	NM_001371	NP_001362					26	3688	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.3088C>A		.	.	.	.	.	.	.	.	.	.	C	17.37	3.373355	0.61624	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.28454	1.67;1.68;1.61	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.52058	0.1711	M	0.78916	2.43	0.58432	D	0.999999	D	0.89917	1.0	D	0.72982	0.979	T	0.54255	-0.8321	10	0.72032	D	0.01	.	18.2891	0.90123	0.0:1.0:0.0:0.0	.	1030	Q96JB1	DYH8_HUMAN	T	1235;1235;1030;1030	ENSP00000333363:P1235T;ENSP00000352312:P1030T;ENSP00000402294:P1030T	ENSP00000333363:P1235T	P	+	1	0	DNAH8	38899334	1.000000	0.71417	1.000000	0.80357	0.454000	0.32378	5.844000	0.69430	2.756000	0.94617	0.563000	0.77884	CCC		0.318	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		41	82	1	0	7.63091e-17	0.007835	1.15096e-16	41	82				
GPR116	221395	broad.mit.edu	37	6	46826786	46826786	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:46826786T>C	ENST00000283296.7	-	17	3142	c.2854A>G	c.(2854-2856)Acg>Gcg	p.T952A	GPR116_ENST00000265417.7_Missense_Mutation_p.T952A|GPR116_ENST00000545669.1_Missense_Mutation_p.T381A|GPR116_ENST00000362015.4_Missense_Mutation_p.T952A|GPR116_ENST00000456426.2_Missense_Mutation_p.T810A	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	952	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T952A(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ACACACTTCGTTTCGCCGCCT	0.488																																					NSCLC(59;410 1274 8751 36715 50546)	NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(2854-2856)ACG>GCG		G-protein coupled receptor 116 precursor							102.0	91.0	95.0					6																	46826786		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46826786T>C	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2854A>G	6.37:g.46826786T>C	ENSP00000283296:p.Thr952Ala					GPR116_uc011dwj.1_Missense_Mutation_p.T507A|GPR116_uc011dwk.1_Missense_Mutation_p.T381A|GPR116_uc003oyp.3_Missense_Mutation_p.T810A|GPR116_uc003oyq.3_Missense_Mutation_p.T952A|GPR116_uc010jzi.1_Missense_Mutation_p.T624A	p.T952A	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		17	3143	-			952			GPS.|Extracellular (Potential).		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.2854A>G	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	T	4.067	0.010165	0.07912	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.32	2.47	0.30058	GPS domain (3);	0.209202	0.33875	N	0.004477	T	0.19208	0.0461	N	0.11000	0.08	0.09310	N	1	B;B;B;B;B	0.23937	0.093;0.004;0.094;0.01;0.094	B;B;B;B;B	0.22386	0.02;0.029;0.039;0.03;0.039	T	0.21008	-1.0258	10	0.28530	T	0.3	-0.8063	10.5494	0.45079	0.0:0.133:0.5997:0.2673	.	381;507;952;810;952	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	A	952;952;952;810;323;952;381	ENSP00000283296:T952A;ENSP00000354563:T952A;ENSP00000412866:T810A;ENSP00000265417:T952A;ENSP00000441581:T381A	ENSP00000265417:T952A	T	-	1	0	GPR116	46934745	0.996000	0.38824	0.001000	0.08648	0.004000	0.04260	3.454000	0.52986	0.197000	0.20387	-0.375000	0.07067	ACG		0.488	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		36	130	0	0	0	0.004289	0	36	130				
DST	667	broad.mit.edu	37	6	56516040	56516041	+	Splice_Site	DNP	GG	GG	AT			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:56516040_56516041GG>AT	ENST00000361203.3	-	7	590_591	c.583_584CC>AT	c.(583-585)CCg>ATg	p.P195M	DST_ENST00000370788.2_Splice_Site_p.P195M|DST_ENST00000312431.6_Splice_Site_p.P195M|DST_ENST00000370769.4_Splice_Site_p.P195M|DST_ENST00000421834.2_Splice_Site_p.P195M|DST_ENST00000370754.5_Splice_Site_p.P373M			Q03001	DYST_HUMAN	dystonin	195	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.P195M(2)|p.P373M(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATCAGGTCCGGCCTAGGAAAA	0.327																																							uc003pdf.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(1117-1119)CCG>ATG		dystonin isoform 2																																				SO:0001630	splice_region_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56516040_56516041GG>AT	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.583_584delinsAT	6.37:g.56516040_56516041delinsAT						DST_uc003pcz.3_Missense_Mutation_p.P195M|DST_uc011dxj.1_Missense_Mutation_p.P224M|DST_uc011dxk.1_Missense_Mutation_p.P235M|DST_uc011dxl.1_Missense_Mutation_p.P224M|DST_uc003pde.2_Missense_Mutation_p.P311M	p.P373M	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		10	1145_1146	-	Lung NSC(77;0.103)		195			CH 2.|Actin-binding.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	DNP	ENST00000361203.3	37	c.1117_1118CC>AT																																																																																					0.327	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	Missense_Mutation	6	14	0	0	0	0.004672	0	6	14				
RSPH4A	345895	broad.mit.edu	37	6	116938031	116938031	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:116938031C>A	ENST00000229554.5	+	1	382	c.245C>A	c.(244-246)cCt>cAt	p.P82H	RSPH4A_ENST00000368581.4_Missense_Mutation_p.P82H|RSPH4A_ENST00000368580.4_Missense_Mutation_p.P82H	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	82					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)		p.P82H(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACATCATCACCTGCTCCTGTC	0.652									Kartagener syndrome																														uc003pxe.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(244-246)CCT>CAT		radial spoke head 4 homolog A isoform 1							35.0	42.0	40.0					6																	116938031		2203	4300	6503	SO:0001583	missense	345895	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		g.chr6:116938031C>A		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.245C>A	6.37:g.116938031C>A	ENSP00000229554:p.Pro82His					RSPH4A_uc010kee.2_Missense_Mutation_p.P82H	p.P82H	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN			1	390	+			82					B4DSI1|Q3KP24|Q5TD95	Missense_Mutation	SNP	ENST00000229554.5	37	c.245C>A	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218868	0.58560	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000368580	T;T;T	0.66995	-0.24;1.41;1.32	5.22	1.48	0.22813	.	1.504260	0.03784	N	0.261811	T	0.33381	0.0861	N	0.24115	0.695	0.09310	N	1	P;P	0.39624	0.681;0.553	B;B	0.41946	0.371;0.204	T	0.26155	-1.0111	10	0.38643	T	0.18	.	3.5401	0.07808	0.1769:0.5504:0.0:0.2727	.	82;82	Q5TD94-3;Q5TD94	.;RSH4A_HUMAN	H	82	ENSP00000357570:P82H;ENSP00000229554:P82H;ENSP00000357569:P82H	ENSP00000229554:P82H	P	+	2	0	RSPH4A	117044724	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.034000	0.13776	0.451000	0.26802	0.650000	0.86243	CCT		0.652	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892		15	42	1	0	3.45872e-05	0.004007	3.88572e-05	15	42				
LAMA2	3908	broad.mit.edu	37	6	129635942	129635943	+	Splice_Site	DNP	GG	GG	TT			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:129635942_129635943GG>TT	ENST00000421865.2	+	24	3603_3604	c.3554_3555GG>TT	c.(3553-3555)tGG>tTT	p.W1185F		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1185	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.W1185F(2)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATCCGGACGTGGGTGAGTAGGG	0.48																																							uc003qbn.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|breast(1)|skin(1)	10						c.(3553-3555)TGG>TTT		laminin alpha 2 subunit isoform a precursor																																				SO:0001630	splice_region_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129635942_129635943GG>TT	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	Exception_encountered	6.37:g.129635942_129635943delinsTT						LAMA2_uc003qbo.2_Missense_Mutation_p.W1185F	p.W1185F	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	24	3659_3660	+			1185			Laminin IV type A 2.		Q14736|Q5VUM2|Q93022	Missense_Mutation	DNP	ENST00000421865.2	37	c.3554_3555GG>TT	CCDS5138.1																																																																																				0.480	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		Missense_Mutation	25	81	0	0	0	0.004672	0	25	81				
LAMA2	3908	broad.mit.edu	37	6	129674483	129674483	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:129674483C>T	ENST00000421865.2	+	32	4747	c.4698C>T	c.(4696-4698)cgC>cgT	p.R1566R		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1566	Laminin EGF-like 17. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.R1566R(2)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GGCATGCACGCGAGGGCTGGG	0.537																																							uc003qbn.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(8)|breast(1)|skin(1)	10						c.(4696-4698)CGC>CGT		laminin alpha 2 subunit isoform a precursor							110.0	92.0	98.0					6																	129674483		2203	4300	6503	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129674483C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4698C>T	6.37:g.129674483C>T						LAMA2_uc003qbo.2_Silent_p.R1566R	p.R1566R	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	32	4803	+			1566			Laminin EGF-like 17.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.4698C>T	CCDS5138.1																																																																																				0.537	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			24	64	0	0	0	0.004656	0	24	64				
MED23	9439	broad.mit.edu	37	6	131912668	131912668	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:131912668C>A	ENST00000368068.3	-	26	3651		c.e26-1		MED23_ENST00000368060.3_Splice_Site|MED23_ENST00000403834.3_Splice_Site|MED23_ENST00000354577.4_Splice_Site|MED23_ENST00000545957.1_Splice_Site|MED23_ENST00000479213.1_Splice_Site|MED23_ENST00000368058.1_Splice_Site	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23						gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.?(4)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AATATGGCTCCTTTAAAATCG	0.403																																							uc003qcs.1		NA																	4	Unknown(4)		lung(4)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.e26-1		mediator complex subunit 23 isoform a							65.0	61.0	62.0					6																	131912668		2203	4300	6503	SO:0001630	splice_region_variant	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131912668C>A	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.3472-1G>T	6.37:g.131912668C>A						MED23_uc003qcq.2_Splice_Site_p.E1164_splice|MED23_uc003qcr.1_Splice_Site_p.E13_splice	p.E1158_splice	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	26	3646	-	Breast(56;0.0753)							B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Splice_Site	SNP	ENST00000368068.3	37	c.3472_splice	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.942312	0.34283	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6287	0.95691	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MED23	131954361	1.000000	0.71417	1.000000	0.80357	0.047000	0.14425	7.818000	0.86416	2.652000	0.90054	0.563000	0.77884	.		0.403	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1		Intron	23	36	1	0	1.28384e-07	0.001882	1.55427e-07	23	36				
MOXD1	26002	broad.mit.edu	37	6	132649636	132649636	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:132649636C>T	ENST00000367963.3	-	5	879	c.761G>A	c.(760-762)gGc>gAc	p.G254D	MOXD1_ENST00000336749.3_Missense_Mutation_p.G186D	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	254						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)	p.G186D(2)|p.G254D(2)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GCACTCGTGGCCGGACTCCAG	0.517																																							uc003qdf.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(760-762)GGC>GAC		monooxygenase, DBH-like 1 isoform 2							169.0	143.0	152.0					6																	132649636		2203	4300	6503	SO:0001583	missense	26002				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	g.chr6:132649636C>T	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.761G>A	6.37:g.132649636C>T	ENSP00000356940:p.Gly254Asp					MOXD1_uc003qde.2_Missense_Mutation_p.G186D	p.G254D	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	5	860	-	Breast(56;0.0495)		254			Lumenal (Potential).		Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	ENST00000367963.3	37	c.761G>A	CCDS5152.2	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589858	0.46214	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	T;T	0.31769	1.48;1.48	4.89	4.89	0.63831	Copper type II, ascorbate-dependent monooxygenase, N-terminal (2);PHM/PNGase F domain (1);	0.119096	0.56097	N	0.000034	T	0.26304	0.0642	M	0.63208	1.945	0.80722	D	1	B;B	0.28760	0.221;0.117	B;B	0.34418	0.182;0.063	T	0.09840	-1.0656	10	0.48119	T	0.1	-29.805	18.4107	0.90549	0.0:1.0:0.0:0.0	.	254;186	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	D	254;186	ENSP00000356940:G254D;ENSP00000336998:G186D	ENSP00000336998:G186D	G	-	2	0	MOXD1	132691329	1.000000	0.71417	0.888000	0.34837	0.241000	0.25554	6.470000	0.73558	2.416000	0.81992	0.655000	0.94253	GGC		0.517	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		27	65	0	0	0	0.004656	0	27	65				
OPRM1	4988	broad.mit.edu	37	6	154411267	154411267	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:154411267C>A	ENST00000330432.7	+	2	834	c.597C>A	c.(595-597)gcC>gcA	p.A199A	OPRM1_ENST00000229768.5_Silent_p.A199A|OPRM1_ENST00000360422.4_Silent_p.A199A|OPRM1_ENST00000522555.1_Silent_p.A99A|OPRM1_ENST00000337049.4_Silent_p.A199A|OPRM1_ENST00000419506.2_Silent_p.A199A|OPRM1_ENST00000524163.1_Silent_p.A199A|OPRM1_ENST00000520708.1_Silent_p.A99A|OPRM1_ENST00000428397.2_Silent_p.A199A|OPRM1_ENST00000414028.2_Silent_p.A199A|OPRM1_ENST00000522236.1_Silent_p.A99A|OPRM1_ENST00000434900.2_Silent_p.A292A|OPRM1_ENST00000518759.1_Silent_p.A118A|OPRM1_ENST00000435918.2_Silent_p.A199A|OPRM1_ENST00000452687.2_Silent_p.A199A	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	199					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)	p.A199A(4)|p.A292A(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TCTCTTCAGCCATTGGTCTTC	0.468																																							uc003qpr.2		NA																	6	Substitution - coding silent(6)		lung(6)	ovary(1)	1						c.(595-597)GCC>GCA		opioid receptor, mu 1 isoform MOR-1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)						123.0	116.0	118.0					6																	154411267		2004	4205	6209	SO:0001819	synonymous_variant	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154411267C>A	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.597C>A	6.37:g.154411267C>A						OPRM1_uc011efb.1_Silent_p.A247A|OPRM1_uc011efc.1_Silent_p.A118A|OPRM1_uc011efd.1_Silent_p.A99A|OPRM1_uc011efe.1_Silent_p.A292A|OPRM1_uc003qpn.2_Silent_p.A199A|OPRM1_uc003qpo.1_Silent_p.A199A|OPRM1_uc011eff.1_Silent_p.A199A|OPRM1_uc011efg.1_Silent_p.A199A|OPRM1_uc011efh.1_Silent_p.A199A|OPRM1_uc003qpq.1_Silent_p.A199A|OPRM1_uc003qpt.1_Silent_p.A199A|OPRM1_uc011efi.1_Silent_p.A199A|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA|OPRM1_uc010kjg.2_Silent_p.A99A|OPRM1_uc003qpu.2_Silent_p.A99A	p.A199A	NM_000914	NP_000905	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	2	834	+		Ovarian(120;0.196)	199			Helical; Name=4; (Potential).		B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Silent	SNP	ENST00000330432.7	37	c.597C>A	CCDS55070.1																																																																																				0.468	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		46	71	1	0	1.02687e-29	0.003214	1.83826e-29	46	71				
SUN1	23353	broad.mit.edu	37	7	912908	912908	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:912908G>A	ENST00000405266.1	+	20	2433	c.2409G>A	c.(2407-2409)tgG>tgA	p.W803*	SUN1_ENST00000389574.3_Nonsense_Mutation_p.W683*|SUN1_ENST00000425407.2_Nonsense_Mutation_p.W683*|SUN1_ENST00000401592.1_Nonsense_Mutation_p.W766*|SUN1_ENST00000456758.2_Nonsense_Mutation_p.W955*|SUN1_ENST00000413514.2_Nonsense_Mutation_p.W564*|SUN1_ENST00000452783.2_Nonsense_Mutation_p.W663*			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	793	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)		p.W766*(2)|p.W683*(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTCTAACTGGGGCCATCCTG	0.388											OREG0017816	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc011jvp.1		NA																	4	Substitution - Nonsense(4)		lung(4)		0						c.(2296-2298)TGG>TGA		unc-84 homolog A isoform a							172.0	160.0	164.0					7																	912908		1838	4100	5938	SO:0001587	stop_gained	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:912908G>A	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.2409G>A	7.37:g.912908G>A	ENSP00000384116:p.Trp803*		OREG0017816	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	591	GET4_uc003sjj.1_Intron|SUN1_uc003sjf.2_Nonsense_Mutation_p.W683*|SUN1_uc011jvq.1_Nonsense_Mutation_p.W663*|SUN1_uc003sjg.2_Nonsense_Mutation_p.W671*|SUN1_uc011jvr.1_Nonsense_Mutation_p.W564*|SUN1_uc003sji.2_Nonsense_Mutation_p.W604*|SUN1_uc003sjk.2_Nonsense_Mutation_p.W405*	p.W766*	NM_001130965	NP_001124437	O94901	SUN1_HUMAN			20	2377	+			793			Perinuclear space.|SUN.		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Nonsense_Mutation	SNP	ENST00000405266.1	37	c.2298G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.655505|7.655505	0.98415|0.98415	.|.	.|.	ENSG00000164828|ENSG00000164828	ENST00000433212|ENST00000456758;ENST00000389574;ENST00000452783;ENST00000405266;ENST00000401592;ENST00000297445;ENST00000425407;ENST00000429178;ENST00000413514	.|.	.|.	.|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.055521	.|0.85682	.|D	.|0.000000	T|.	0.47619|.	0.1455|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37753|.	-0.9692|.	4|.	.|0.02654	.|T	.|1	-20.6011|-20.6011	19.3041|19.3041	0.94153|0.94153	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	R|X	615|955;683;663;803;766;793;683;691;564	.|.	.|ENSP00000297445:W793X	G|W	+|+	1|3	0|0	SUN1|SUN1	879434|879434	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.502000|9.502000	0.97981|0.97981	2.573000|2.573000	0.86826|0.86826	0.462000|0.462000	0.41574|0.41574	GGG|TGG		0.388	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154		143	438	0	0	0	0.00361	0	143	438				
PHF14	9678	broad.mit.edu	37	7	11068363	11068363	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:11068363G>T	ENST00000403050.3	+	7	1825	c.1373G>T	c.(1372-1374)tGt>tTt	p.C458F	PHF14_ENST00000445996.2_Missense_Mutation_p.C173F	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	458					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.C458F(2)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TGCATTAGCTGTGATGCAGGG	0.448																																							uc003sry.1		NA																	2	Substitution - Missense(2)		lung(2)	kidney(2)|skin(1)	3						c.(1372-1374)TGT>TTT		PHD finger protein 14 isoform 2							127.0	121.0	123.0					7																	11068363		1951	4159	6110	SO:0001583	missense	9678						zinc ion binding	g.chr7:11068363G>T	AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"""Zinc fingers, PHD-type"""	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.1373G>T	7.37:g.11068363G>T	ENSP00000385795:p.Cys458Phe					PHF14_uc011jxi.1_Missense_Mutation_p.C173F|PHF14_uc003srz.2_Missense_Mutation_p.C458F|PHF14_uc011jxj.1_Missense_Mutation_p.C173F	p.C458F	NM_014660	NP_055475	O94880	PHF14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.205)	7	1808	+			458					A7MCZ3|B4DI82	Missense_Mutation	SNP	ENST00000403050.3	37	c.1373G>T	CCDS47542.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958652	0.92726	.	.	ENSG00000106443	ENST00000403050;ENST00000445996	T;D	0.98249	0.63;-4.82	5.31	5.31	0.75309	Zinc finger, PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.99438	0.9801	H	0.98133	4.155	0.80722	D	1	D;D;D;D	0.89917	0.988;0.991;0.997;1.0	D;D;D;D	0.97110	0.989;0.99;0.996;1.0	D	0.98249	1.0492	10	0.87932	D	0	.	19.3605	0.94436	0.0:0.0:1.0:0.0	.	173;173;458;458	O94880-2;B4DG57;A8MSQ1;O94880	.;.;.;PHF14_HUMAN	F	458;173	ENSP00000385795:C458F;ENSP00000403907:C173F	ENSP00000385795:C458F	C	+	2	0	PHF14	11034888	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.752000	0.98900	2.630000	0.89119	0.650000	0.86243	TGT		0.448	PHF14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318212.1	NM_014660		71	153	1	0	1.1794e-34	0.00361	2.20532e-34	71	153				
THSD7A	221981	broad.mit.edu	37	7	11486977	11486977	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:11486977C>A	ENST00000423059.4	-	12	2931	c.2680G>T	c.(2680-2682)Gcc>Tcc	p.A894S	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	894					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A894S(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGGGTAAGGGCTGGCACAGGG	0.507										HNSCC(18;0.044)																													uc003ssf.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(2680-2682)GCC>TCC		thrombospondin, type I, domain containing 7A							53.0	53.0	53.0					7																	11486977		1927	4124	6051	SO:0001583	missense	221981					integral to membrane		g.chr7:11486977C>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2680G>T	7.37:g.11486977C>A	ENSP00000406482:p.Ala894Ser	HNSCC(18;0.044)					p.A894S	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	12	2932	-			894			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000423059.4	37	c.2680G>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.355789	0.41700	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.58210	0.35	5.73	3.82	0.43975	.	0.268533	0.42821	D	0.000660	T	0.26702	0.0653	N	0.12831	0.26	0.25913	N	0.983202	B	0.09022	0.002	B	0.11329	0.006	T	0.15093	-1.0449	10	0.10377	T	0.69	.	5.0632	0.14568	0.118:0.4673:0.3341:0.0806	.	894	Q9UPZ6	THS7A_HUMAN	S	894	ENSP00000406482:A894S	ENSP00000262042:A894S	A	-	1	0	THSD7A	11453502	0.881000	0.30235	1.000000	0.80357	0.938000	0.57974	0.199000	0.17237	1.408000	0.46895	0.655000	0.94253	GCC		0.507	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		18	60	1	0	1.99824e-07	0.00499	2.40316e-07	18	60				
TMEM106B	54664	broad.mit.edu	37	7	12270059	12270059	+	Silent	SNP	T	T	C	rs142177964		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:12270059T>C	ENST00000396667.3	+	7	949	c.627T>C	c.(625-627)taT>taC	p.Y209Y	TMEM106B_ENST00000396668.3_Silent_p.Y209Y	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	209					cell death (GO:0008219)|dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.Y209Y(2)		NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		AAATGAGTTATATGTAGTAAG	0.269													T|||	1	0.000199681	0.0008	0.0	5008	,	,		14435	0.0		0.0	False		,,,				2504	0.0						uc011jxk.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(625-627)TAT>TAC		transmembrane protein 106B		T	,	2,4402	4.2+/-10.8	0,2,2200	104.0	111.0	108.0		627,627	-1.9	1.0	7	dbSNP_134	108	0,8598		0,0,4299	yes	coding-synonymous,coding-synonymous	TMEM106B	NM_001134232.1,NM_018374.3	,	0,2,6499	CC,CT,TT		0.0,0.0454,0.0154	,	209/275,209/275	12270059	2,13000	2202	4299	6501	SO:0001819	synonymous_variant	54664					integral to membrane		g.chr7:12270059T>C	BC033901	CCDS5358.1	7p21.3	2012-06-06			ENSG00000106460	ENSG00000106460			22407	protein-coding gene	gene with protein product		613413				20154673, 22511793	Standard	NM_018374		Approved	MGC33727, FLJ11273	uc003ssh.3	Q9NUM4	OTTHUMG00000125537	ENST00000396667.3:c.627T>C	7.37:g.12270059T>C						TMEM106B_uc003ssh.2_Silent_p.Y209Y	p.Y209Y	NM_018374	NP_060844	Q9NUM4	T106B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.185)	7	1027	+			209					A4D108|Q53FL9|Q8N4L0	Silent	SNP	ENST00000396667.3	37	c.627T>C	CCDS5358.1																																																																																				0.269	TMEM106B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246870.3	NM_018374		69	107	0	0	0	0.00361	0	69	107				
HDAC9	9734	broad.mit.edu	37	7	18688221	18688221	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:18688221C>G	ENST00000432645.2	+	10	1373	c.1373C>G	c.(1372-1374)aCg>aGg	p.T458R	HDAC9_ENST00000417496.2_Missense_Mutation_p.T456R|HDAC9_ENST00000406072.1_Missense_Mutation_p.T445R|HDAC9_ENST00000524023.1_Missense_Mutation_p.T381R|HDAC9_ENST00000456174.2_Missense_Mutation_p.T430R|HDAC9_ENST00000405010.3_Missense_Mutation_p.T458R|HDAC9_ENST00000441542.2_Missense_Mutation_p.T461R|HDAC9_ENST00000401921.1_Missense_Mutation_p.T417R|HDAC9_ENST00000406451.4_Missense_Mutation_p.T458R|HDAC9_ENST00000428307.2_Missense_Mutation_p.T414R	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	458					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.T461R(4)|p.T456R(2)|p.T458R(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCTCAGAGCACGTTGGCTCAG	0.507																																							uc003suh.2		NA																	8	Substitution - Missense(8)		lung(8)	lung(2)|central_nervous_system(2)|kidney(1)	5						c.(1372-1374)ACG>AGG		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						65.0	67.0	66.0					7																	18688221		2028	4173	6201	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18688221C>G	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1373C>G	7.37:g.18688221C>G	ENSP00000410337:p.Thr458Arg					HDAC9_uc003sue.2_Missense_Mutation_p.T458R|HDAC9_uc011jyd.1_Missense_Mutation_p.T458R|HDAC9_uc003sui.2_Missense_Mutation_p.T461R|HDAC9_uc003suj.2_Missense_Mutation_p.T417R|HDAC9_uc011jya.1_Missense_Mutation_p.T455R|HDAC9_uc003sua.1_Missense_Mutation_p.T436R|HDAC9_uc011jyb.1_Missense_Mutation_p.T414R|HDAC9_uc003sud.1_Missense_Mutation_p.T458R|HDAC9_uc011jyc.1_Missense_Mutation_p.T417R|HDAC9_uc003suf.1_Missense_Mutation_p.T489R|HDAC9_uc010kud.1_Missense_Mutation_p.T461R|HDAC9_uc011jye.1_Missense_Mutation_p.T430R|HDAC9_uc011jyf.1_Missense_Mutation_p.T381R|HDAC9_uc010kue.1_Missense_Mutation_p.T201R	p.T458R	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			10	1414	+	all_lung(11;0.187)		458					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.1373C>G	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871030	0.72065	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T	0.58652	0.9;0.89;0.32;0.9;0.9;0.33;0.32;0.32;0.9;0.9	5.48	5.48	0.80851	.	0.000000	0.49305	D	0.000149	T	0.75191	0.3816	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.997;0.998;0.999;0.998;0.997;0.999;0.997;0.997;0.999;0.976;0.997;0.999;0.999;0.997	T	0.75997	-0.3120	10	0.59425	D	0.04	-16.3426	19.3489	0.94376	0.0:1.0:0.0:0.0	.	381;430;458;445;456;458;461;417;461;458;430;458;458;436	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q9UKV0-2;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	R	456;459;458;458;414;445;417;458;461;430;381;458	ENSP00000401669:T456R;ENSP00000384382:T458R;ENSP00000384657:T458R;ENSP00000395655:T414R;ENSP00000384017:T445R;ENSP00000383912:T417R;ENSP00000410337:T458R;ENSP00000408617:T461R;ENSP00000388568:T430R;ENSP00000430036:T381R	ENSP00000262069:T459R	T	+	2	0	HDAC9	18654746	1.000000	0.71417	0.929000	0.37066	0.822000	0.46500	7.298000	0.78815	2.584000	0.87258	0.557000	0.71058	ACG		0.507	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			58	139	0	0	0	0.00361	0	58	139				
CLK2P1	1197	broad.mit.edu	37	7	23624863	23624863	+	IGR	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:23624863G>T								TRA2A (53203 upstream) : CCDC126 (12134 downstream)																							GTCAGATACTGCCGCAGCGGT	0.502																																							uc003swk.2		NA																	0					0						c.(634-636)CAG>AAG		SubName: Full=cDNA FLJ61616, highly similar to Dual specificity protein kinase CLK2 (EC 2.7.12.1); SubName: Full=CDC-like kinase 2, isoform CRA_c; SubName: Full=Putative uncharacterized protein CLK2;																																				SO:0001628	intergenic_variant	1197							g.chr7:23624863G>T																													7.37:g.23624863G>T							p.Q212K	NR_002711						1	1284	-									Missense_Mutation	SNP		37	c.634C>A																																																																																				0	0.502									81	142	1	0	1.75807e-36	0.00361	3.333e-36	81	142				
ADCYAP1R1	117	broad.mit.edu	37	7	31104473	31104473	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:31104473C>A	ENST00000304166.4	+	3	367	c.78C>A	c.(76-78)atC>atA	p.I26I	ADCYAP1R1_ENST00000396211.2_Silent_p.I26I|ADCYAP1R1_ENST00000409363.1_Silent_p.I26I|ADCYAP1R1_ENST00000409489.1_Silent_p.I26I	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	26					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)	p.I26I(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CTGACTGCATCTTCAAGAAGG	0.582																																					Ovarian(44;225 1186 2158 11092)	Ovarian(44;225 1186 2158 11092)	uc003tca.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(76-78)ATC>ATA		adenylate cyclase activating polypeptide 1							76.0	63.0	68.0					7																	31104473		2203	4300	6503	SO:0001819	synonymous_variant	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31104473C>A		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.78C>A	7.37:g.31104473C>A						ADCYAP1R1_uc003tcb.1_Silent_p.I26I|ADCYAP1R1_uc003tcc.1_Silent_p.I26I|ADCYAP1R1_uc003tcd.1_Silent_p.I26I|ADCYAP1R1_uc003tce.1_Silent_p.I26I	p.I26I	NM_001118	NP_001109	P41586	PACR_HUMAN			3	301	+			26			Extracellular (Potential).		A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Silent	SNP	ENST00000304166.4	37	c.78C>A	CCDS5433.1																																																																																				0.582	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		10	93	1	0	2.17888e-05	0.006214	2.45799e-05	10	93				
NEUROD6	63974	broad.mit.edu	37	7	31378427	31378427	+	Silent	SNP	G	G	A	rs533417088		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:31378427G>A	ENST00000297142.3	-	2	778	c.456C>T	c.(454-456)atC>atT	p.I152I		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	152					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)	p.I152I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GTCTCTTGCCGATTCTCAGAA	0.458																																							uc003tch.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(454-456)ATC>ATT		neurogenic differentiation 6							72.0	74.0	73.0					7																	31378427		2203	4300	6503	SO:0001819	synonymous_variant	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378427G>A	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.456C>T	7.37:g.31378427G>A							p.I152I	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN			2	809	-			152					Q548T9|Q9H3H6	Silent	SNP	ENST00000297142.3	37	c.456C>T	CCDS5434.1																																																																																				0.458	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		11	214	0	0	0	0.010729	0	11	214				
SUGCT	79783	broad.mit.edu	37	7	40228153	40228153	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:40228153T>C	ENST00000335693.4	+	4	330	c.307T>C	c.(307-309)Tat>Cat	p.Y103H	C7orf10_ENST00000309930.5_Missense_Mutation_p.Y103H|C7orf10_ENST00000401647.2_Missense_Mutation_p.Y103H|C7orf10_ENST00000540834.1_Missense_Mutation_p.Y96H	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		103					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						AAGTACATATTATCTCAGTGT	0.343																																							uc003thn.1		NA																	0				ovary(2)	2						c.(286-288)TAT>CAT		dermal papilla derived protein 13							52.0	53.0	53.0					7																	40228153		1826	4078	5904	SO:0001583	missense	79783						transferase activity	g.chr7:40228153T>C																												ENST00000335693.4:c.307T>C	7.37:g.40228153T>C	ENSP00000338475:p.Tyr103His					C7orf10_uc003thm.1_Missense_Mutation_p.Y103H|C7orf10_uc003tho.1_Missense_Mutation_p.Y96H	p.Y96H	NM_024728	NP_079004	Q9HAC7	CG010_HUMAN			4	331	+			103					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	37	c.286T>C	CCDS55105.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.4|24.4	4.528204|4.528204	0.85706|0.85706	.|.	.|.	ENSG00000175600|ENSG00000175600	ENST00000413931|ENST00000309930;ENST00000401647;ENST00000335693;ENST00000540834	.|D;D;D;D	.|0.98762	.|-5.12;-5.12;-5.12;-5.12	5.77|5.77	5.77|5.77	0.91146|0.91146	.|CoA-transferase family III domain (2);	.|0.044123	.|0.85682	.|D	.|0.000000	D|D	0.97748|0.97748	0.9261|0.9261	N|N	0.25825|0.25825	0.765|0.765	0.33702|0.33702	D|D	0.614652|0.614652	.|P;P;D	.|0.54047	.|0.897;0.897;0.964	.|P;P;P	.|0.55824	.|0.594;0.492;0.785	D|D	0.99970|0.99970	1.1972|1.1972	5|10	.|0.87932	.|D	.|0	-12.5123|-12.5123	15.3701|15.3701	0.74557|0.74557	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|103;103;103	.|Q4KMW8;Q9HAC7;Q9HAC7-2	.|.;CG010_HUMAN;.	S|H	114|103;103;103;96	.|ENSP00000312054:Y103H;ENSP00000385222:Y103H;ENSP00000338475:Y103H;ENSP00000445521:Y96H	.|ENSP00000312054:Y103H	L|Y	+|+	2|1	0|0	C7orf10|C7orf10	40194678|40194678	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	6.578000|6.578000	0.74032|0.74032	2.330000|2.330000	0.79161|0.79161	0.477000|0.477000	0.44152|0.44152	TTA|TAT		0.343	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			3	85	0	0	0	0.004672	0	3	85				
ABCA13	154664	broad.mit.edu	37	7	48416095	48416095	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:48416095G>T	ENST00000435803.1	+	35	11285	c.11261G>T	c.(11260-11262)tGg>tTg	p.W3754L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3754					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.W3699L(2)|p.W3754L(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACATTTGGCTGGGTTTGCTGG	0.403																																							uc003toq.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(11260-11262)TGG>TTG		ATP binding cassette, sub-family A (ABC1),							143.0	133.0	136.0					7																	48416095		1853	4100	5953	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48416095G>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11261G>T	7.37:g.48416095G>T	ENSP00000411096:p.Trp3754Leu					ABCA13_uc010kys.1_Missense_Mutation_p.W828L|ABCA13_uc003tos.1_Missense_Mutation_p.W580L|ABCA13_uc010kyt.1_RNA	p.W3754L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			35	11286	+			3754			Helical; (Potential).		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.11261G>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.058675	0.76074	.	.	ENSG00000179869	ENST00000435803	D	0.85861	-2.04	5.66	5.66	0.87406	.	0.000000	0.47455	D	0.000231	D	0.89227	0.6655	L	0.37507	1.11	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.964;0.99	D	0.88870	0.3332	10	0.48119	T	0.1	.	18.7298	0.91731	0.0:0.0:1.0:0.0	.	1456;3754	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	L	3754	ENSP00000411096:W3754L	ENSP00000411096:W3754L	W	+	2	0	ABCA13	48386641	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.364000	0.66110	2.665000	0.90641	0.650000	0.86243	TGG		0.403	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		62	234	1	0	4.09171e-25	0.00361	6.91663e-25	62	234				
ABCA13	154664	broad.mit.edu	37	7	48654949	48654949	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:48654949G>A	ENST00000435803.1	+	59	14837	c.14813G>A	c.(14812-14814)gGt>gAt	p.G4938D	ABCA13_ENST00000544596.1_Missense_Mutation_p.G668D	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4938	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.G4883D(1)|p.G4938D(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAATGTCTTGGTTCTCCTCAG	0.418																																							uc003toq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(14812-14814)GGT>GAT		ATP binding cassette, sub-family A (ABC1),							92.0	92.0	92.0					7																	48654949		1928	4141	6069	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48654949G>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.14813G>A	7.37:g.48654949G>A	ENSP00000411096:p.Gly4938Asp					ABCA13_uc010kys.1_Missense_Mutation_p.G2013D|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.G668D	p.G4938D	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			59	14838	+			4938			ABC transporter 2.		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.14813G>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	31	5.091637	0.94149	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.97688	-4.49;-4.49;-4.49	5.99	5.99	0.97316	ABC transporter-like (1);	0.000000	0.52532	D	0.000072	D	0.98419	0.9474	M	0.64567	1.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	D	0.99387	1.0924	10	0.87932	D	0	.	17.9616	0.89087	0.0:0.0:1.0:0.0	.	668;2640;4938	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	D	4938;711;668	ENSP00000411096:G4938D;ENSP00000391042:G711D;ENSP00000442634:G668D	ENSP00000391042:G711D	G	+	2	0	ABCA13	48625495	1.000000	0.71417	0.644000	0.29465	0.981000	0.71138	8.973000	0.93428	2.842000	0.97951	0.655000	0.94253	GGT		0.418	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		3	18	0	0	0	0.000602	0	3	18				
ZNF680	340252	broad.mit.edu	37	7	64004155	64004155	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:64004155C>G	ENST00000309683.6	-	3	334	c.183G>C	c.(181-183)ctG>ctC	p.L61L	ZNF680_ENST00000447137.2_Silent_p.L61L|ZNF680_ENST00000476563.1_5'UTR	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	61	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)	p.L61L(2)		breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				AACAGGTTATCAGGTGAGGCT	0.398																																							uc003tta.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(181-183)CTG>CTC		zinc finger protein 680 isoform 1							124.0	121.0	122.0					7																	64004155		2203	4300	6503	SO:0001819	synonymous_variant	340252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64004155C>G	AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"""Zinc fingers, C2H2-type"", ""-"""	26897	protein-coding gene	gene with protein product	"""hypothetical protein FLJ90430"""					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.183G>C	7.37:g.64004155C>G						ZNF680_uc010kzr.2_Intron|ZNF680_uc003ttb.2_Silent_p.L61L	p.L61L	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN			3	356	-		Lung NSC(55;0.118)|all_lung(88;0.243)	61			KRAB.		B3KVJ4|Q6ZNF3|Q8NC79	Silent	SNP	ENST00000309683.6	37	c.183G>C	CCDS34644.1																																																																																				0.398	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344568.1	NM_178558		77	169	0	0	0	0.00361	0	77	169				
HGF	3082	broad.mit.edu	37	7	81335640	81335640	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:81335640G>T	ENST00000222390.5	-	15	1946	c.1720C>A	c.(1720-1722)Cct>Act	p.P574T	HGF_ENST00000457544.2_Missense_Mutation_p.P569T	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	574	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.P574T(2)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GATCCTTCAGGGCCATATACC	0.398																																							uc003uhl.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)	4						c.(1720-1722)CCT>ACT		hepatocyte growth factor isoform 1							131.0	128.0	129.0					7																	81335640		2203	4300	6503	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81335640G>T		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1720C>A	7.37:g.81335640G>T	ENSP00000222390:p.Pro574Thr					HGF_uc003uhm.2_Missense_Mutation_p.P569T	p.P574T	NM_000601	NP_000592	P14210	HGF_HUMAN			15	1885	-			574			Peptidase S1.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.1720C>A	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769183	0.69992	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	D;D	0.85861	-2.04;-2.04	4.67	4.67	0.58626	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.91570	0.7337	M	0.65677	2.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.92597	0.6088	10	0.72032	D	0.01	.	17.9201	0.88963	0.0:0.0:1.0:0.0	.	569;574	P14210-3;P14210	.;HGF_HUMAN	T	574;569	ENSP00000222390:P574T;ENSP00000391238:P569T	ENSP00000222390:P574T	P	-	1	0	HGF	81173576	1.000000	0.71417	0.770000	0.31555	0.819000	0.46315	7.434000	0.80377	2.280000	0.76307	0.484000	0.47621	CCT		0.398	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		97	49	1	0	1.07466e-44	0.00361	2.11066e-44	97	49				
SEMA3D	223117	broad.mit.edu	37	7	84669987	84669987	+	Splice_Site	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:84669987A>T	ENST00000284136.6	-	9	1090		c.e9+1		SEMA3D_ENST00000484038.1_Splice_Site	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D						cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.?(2)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGTTGAACATACCTGGTTGTA	0.318																																					Ovarian(63;442 1191 17318 29975 31528)	Ovarian(63;442 1191 17318 29975 31528)	uc003uic.2		NA																	2	Unknown(2)		lung(2)	ovary(3)|large_intestine(2)	5						c.e9+1		semaphorin 3D precursor							67.0	74.0	72.0					7																	84669987		2202	4295	6497	SO:0001630	splice_region_variant	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84669987A>T	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1046+1T>A	7.37:g.84669987A>T						SEMA3D_uc010led.2_Splice_Site_p.S349_splice|SEMA3D_uc003uib.2_Splice_Site	p.S349_splice	NM_152754	NP_689967	O95025	SEM3D_HUMAN			9	1086	-								A6NK46|Q6UW77|Q8NCQ1	Splice_Site	SNP	ENST00000284136.6	37	c.1046_splice	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.467127	0.84533	.	.	ENSG00000153993	ENST00000284136	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9361	0.79707	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEMA3D	84507923	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	9.056000	0.93881	2.222000	0.72286	0.528000	0.53228	.		0.318	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754	Intron	24	25	0	0	0	0.00333	0	24	25				
PILRB	29990	broad.mit.edu	37	7	99956501	99956501	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:99956501A>T	ENST00000452089.1	+	7	1312	c.253A>T	c.(253-255)Agg>Tgg	p.R85W	STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000448382.1_Intron|PILRB_ENST00000444073.1_Missense_Mutation_p.R85W|PILRB_ENST00000610247.1_Missense_Mutation_p.R85W|PILRB_ENST00000609309.1_Missense_Mutation_p.R85W			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	85	Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)		p.R85W(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTACAGCACAAGGCCGCCTTC	0.547																																							uc003uuk.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(253-255)AGG>TGG		paired immunoglobulin-like type 2 receptor beta							116.0	119.0	118.0					7																	99956501		2203	4300	6503	SO:0001583	missense	29990				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity	g.chr7:99956501A>T	AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"""Immunoglobulin superfamily / V-set domain containing"""	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000452089.1:c.253A>T	7.37:g.99956501A>T	ENSP00000391748:p.Arg85Trp					PILRB_uc003uul.2_Intron|PILRB_uc003uum.1_RNA|PILRB_uc003uun.2_Missense_Mutation_p.R85W	p.R85W	NM_013440	NP_038468	Q9UKJ0	PILRB_HUMAN			16	2749	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		85			Extracellular (Potential).|Ig-like V-type.		Q69YF9|Q9HBS0	Missense_Mutation	SNP	ENST00000452089.1	37	c.253A>T	CCDS43622.1	.	.	.	.	.	.	.	.	.	.	A	14.35	2.509896	0.44660	.	.	ENSG00000121716	ENST00000310771;ENST00000420688;ENST00000452089;ENST00000457519;ENST00000443526;ENST00000419749;ENST00000422808;ENST00000444073;ENST00000413850;ENST00000438231	T;T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97	2.48	-0.767	0.11016	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.911560	0.02914	N	0.137024	T	0.28566	0.0707	N	0.22421	0.69	0.09310	N	1	D	0.76494	0.999	D	0.72338	0.977	T	0.24693	-1.0153	9	.	.	.	.	4.6267	0.12481	0.4645:0.0:0.0:0.5355	.	85	Q9UKJ0	PILRB_HUMAN	W	85;85;85;85;85;85;85;85;190;85	ENSP00000311153:R85W;ENSP00000391748:R85W;ENSP00000411261:R85W;ENSP00000403757:R85W;ENSP00000404321:R85W;ENSP00000389856:R85W;ENSP00000410764:R85W;ENSP00000408425:R85W	.	R	+	1	2	PILRB	99794437	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	1.202000	0.32271	0.125000	0.18397	0.438000	0.28831	AGG		0.547	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339923.2	NM_178238		5	167	0	0	0	0.00308	0	5	167				
PILRA	29992	broad.mit.edu	37	7	99971855	99971855	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:99971855A>T	ENST00000198536.2	+	2	465	c.253A>T	c.(253-255)Agg>Tgg	p.R85W	PILRA_ENST00000350573.2_Missense_Mutation_p.R85W|PILRA_ENST00000394000.2_Missense_Mutation_p.R85W|PILRA_ENST00000474013.1_3'UTR|PILRA_ENST00000453419.1_Missense_Mutation_p.R85W	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	85	Ig-like V-type.				signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R85W(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTACAGCACAAGGCCGCCTTC	0.552																																							uc003uuo.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(253-255)AGG>TGG		paired immunoglobulin-like type 2 receptor alpha							82.0	92.0	89.0					7																	99971855		2203	4299	6502	SO:0001583	missense	29992				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr7:99971855A>T	AF161080	CCDS5691.1, CCDS5692.1, CCDS47660.1	7q22.1	2013-01-11			ENSG00000085514	ENSG00000085514		"""Immunoglobulin superfamily / V-set domain containing"""	20396	protein-coding gene	gene with protein product		605341				10660620	Standard	NM_178272		Approved	FDF03	uc003uuo.1	Q9UKJ1	OTTHUMG00000155248	ENST00000198536.2:c.253A>T	7.37:g.99971855A>T	ENSP00000198536:p.Arg85Trp					PILRA_uc011kjn.1_Missense_Mutation_p.R85W|PILRA_uc011kjo.1_Missense_Mutation_p.R85W|PILRA_uc003uup.1_Missense_Mutation_p.R85W|PILRA_uc003uuq.1_Missense_Mutation_p.R85W	p.R85W	NM_013439	NP_038467	Q9UKJ1	PILRA_HUMAN			2	465	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		85			Extracellular (Potential).|Ig-like V-type.		Q8NHI1	Missense_Mutation	SNP	ENST00000198536.2	37	c.253A>T	CCDS5691.1	.	.	.	.	.	.	.	.	.	.	A	16.06	3.015517	0.54468	.	.	ENSG00000085514	ENST00000432297;ENST00000198536;ENST00000453419;ENST00000394000;ENST00000350573	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	3.28	-1.13	0.09775	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.953120	0.02827	N	0.126325	T	0.29976	0.0750	N	0.22421	0.69	0.09310	N	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.997	D;D;D;D;D	0.75484	0.986;0.977;0.961;0.961;0.956	T	0.28681	-1.0036	9	.	.	.	.	6.7004	0.23223	0.4101:0.0:0.0:0.5899	.	85;85;85;85;85	C9JJ79;C9JGG1;Q9UKJ1-4;Q9UKJ1-3;Q9UKJ1	.;.;.;.;PILRA_HUMAN	W	85	ENSP00000415111:R85W;ENSP00000198536:R85W;ENSP00000390026:R85W;ENSP00000377569:R85W;ENSP00000340109:R85W	.	R	+	1	2	PILRA	99809791	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.252000	0.18278	-0.181000	0.10619	0.260000	0.18958	AGG		0.552	PILRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339016.1	NM_013439		82	101	0	0	0	0.00361	0	82	101				
MUC17	140453	broad.mit.edu	37	7	100663463	100663463	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:100663463T>A	ENST00000306151.4	+	1	111	c.47T>A	c.(46-48)cTc>cAc	p.L16H	RP11-395B7.4_ENST00000441882.1_RNA|RP11-395B7.4_ENST00000448513.1_RNA	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	16					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.L16H(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCTTGGTCCTCTCGCTCTTG	0.652																																							uc003uxp.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(46-48)CTC>CAC		mucin 17 precursor							110.0	77.0	88.0					7																	100663463		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100663463T>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.47T>A	7.37:g.100663463T>A	ENSP00000302716:p.Leu16His					MUC17_uc010lho.1_RNA	p.L16H	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			1	100	+	Lung NSC(181;0.136)|all_lung(186;0.182)		16					O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.47T>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	T	3.523	-0.097449	0.07010	.	.	ENSG00000169876	ENST00000306151	T	0.03212	4.01	2.12	0.481	0.16809	.	.	.	.	.	T	0.04318	0.0119	N	0.08118	0	0.09310	N	1	D	0.67145	0.996	P	0.61722	0.893	T	0.42965	-0.9420	9	0.87932	D	0	.	3.6285	0.08123	0.0:0.3359:0.0:0.6641	.	16	Q685J3	MUC17_HUMAN	H	16	ENSP00000302716:L16H	ENSP00000302716:L16H	L	+	2	0	MUC17	100450183	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.093000	0.15086	0.117000	0.18138	0.334000	0.21626	CTC		0.652	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		56	37	0	0	0	0.00361	0	56	37				
NRCAM	4897	broad.mit.edu	37	7	107830179	107830179	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:107830179G>T	ENST00000425651.2	-	17	1944	c.1945C>A	c.(1945-1947)Cct>Act	p.P649T	NRCAM_ENST00000351718.4_Missense_Mutation_p.P633T|NRCAM_ENST00000379024.4_Missense_Mutation_p.P630T|NRCAM_ENST00000379028.3_Missense_Mutation_p.P649T|NRCAM_ENST00000413765.2_Missense_Mutation_p.P630T|NRCAM_ENST00000379022.4_Missense_Mutation_p.P649T	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	649	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)	p.P649T(2)|p.P633T(2)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TCAAAGGGAGGATTTGGGACA	0.448																																							uc003vfb.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|breast(2)	5						c.(1945-1947)CCT>ACT		neuronal cell adhesion molecule isoform A							191.0	159.0	169.0					7																	107830179		2203	4300	6503	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107830179G>T		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.1945C>A	7.37:g.107830179G>T	ENSP00000401244:p.Pro649Thr					NRCAM_uc003vfc.2_Missense_Mutation_p.P633T|NRCAM_uc011kmk.1_Missense_Mutation_p.P644T|NRCAM_uc003vfd.2_Missense_Mutation_p.P625T|NRCAM_uc003vfe.2_Missense_Mutation_p.P625T	p.P649T	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN			20	2416	-			649			Fibronectin type-III 1.|Extracellular (Potential).		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.1945C>A	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325387	0.81580	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979	T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26;0.26	5.42	3.55	0.40652	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.157827	0.64402	D	0.000018	T	0.81470	0.4829	M	0.93375	3.41	0.58432	D	0.999995	D;D;D;D;P	0.58620	0.979;0.979;0.983;0.979;0.89	D;D;D;D;P	0.72625	0.949;0.925;0.978;0.949;0.856	D	0.86136	0.1578	10	0.72032	D	0.01	.	15.7438	0.77922	0.0:0.2584:0.7416:0.0	.	649;630;630;633;649	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	T	649;649;630;649;633;630;649;649;633	ENSP00000368314:P649T;ENSP00000407858:P630T;ENSP00000325269:P633T;ENSP00000368310:P630T;ENSP00000401244:P649T;ENSP00000368308:P649T	ENSP00000325269:P633T	P	-	1	0	NRCAM	107617415	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.372000	0.73123	0.602000	0.29896	0.585000	0.79938	CCT		0.448	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		35	21	1	0	2.42023e-17	0.003271	3.68091e-17	35	21				
PPP1R3A	5506	broad.mit.edu	37	7	113519512	113519512	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:113519512C>G	ENST00000284601.3	-	4	1703	c.1635G>C	c.(1633-1635)atG>atC	p.M545I		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	545					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.M545I(2)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TAGGGTTACCCATCTTCCTTT	0.413																																							uc010ljy.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(1633-1635)ATG>ATC		protein phosphatase 1, regulatory (inhibitor)							104.0	95.0	98.0					7																	113519512		2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113519512C>G	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1635G>C	7.37:g.113519512C>G	ENSP00000284601:p.Met545Ile						p.M545I	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			4	1666	-			545					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.1635G>C	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	3.476	-0.106920	0.06924	.	.	ENSG00000154415	ENST00000284601	T	0.15256	2.44	6.02	-4.38	0.03622	.	1.534460	0.03469	N	0.213433	T	0.07818	0.0196	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.25293	-1.0136	10	0.05620	T	0.96	-0.3547	2.1847	0.03883	0.1127:0.2935:0.18:0.4137	.	545	Q16821	PPR3A_HUMAN	I	545	ENSP00000284601:M545I	ENSP00000284601:M545I	M	-	3	0	PPP1R3A	113306748	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	-1.944000	0.01538	-0.640000	0.05495	0.655000	0.94253	ATG		0.413	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		73	59	0	0	0	0.00361	0	73	59				
PTPRZ1	5803	broad.mit.edu	37	7	121650791	121650791	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:121650791C>G	ENST00000393386.2	+	12	2102	c.1691C>G	c.(1690-1692)tCt>tGt	p.S564C	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.S564C	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	564					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S564C(4)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AATACAGTTTCTATAACAGAA	0.423																																							uc003vjy.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(1690-1692)TCT>TGT		protein tyrosine phosphatase, receptor-type,							49.0	48.0	49.0					7																	121650791		2203	4299	6502	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121650791C>G	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1691C>G	7.37:g.121650791C>G	ENSP00000377047:p.Ser564Cys					PTPRZ1_uc003vjz.2_Missense_Mutation_p.S564C|PTPRZ1_uc011knt.1_Missense_Mutation_p.S14C	p.S564C	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			12	2086	+			564			Extracellular (Potential).		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.1691C>G	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.955303	0.34471	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.52983	0.75;0.64	5.57	4.66	0.58398	.	0.376195	0.25453	N	0.030572	T	0.57533	0.2060	M	0.68952	2.095	0.09310	N	1	B;P;D	0.64830	0.32;0.698;0.994	B;B;P	0.52710	0.421;0.326;0.707	T	0.55566	-0.8121	10	0.72032	D	0.01	.	13.6704	0.62420	0.1544:0.8456:0.0:0.0	.	564;564;564	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	C	564	ENSP00000377047:S564C;ENSP00000410000:S564C	ENSP00000377047:S564C	S	+	2	0	PTPRZ1	121438027	0.933000	0.31639	0.594000	0.28785	0.828000	0.46876	2.649000	0.46656	2.638000	0.89438	0.655000	0.94253	TCT		0.423	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		59	36	0	0	0	0.00361	0	59	36				
IQUB	154865	broad.mit.edu	37	7	123105065	123105065	+	Splice_Site	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:123105065T>A	ENST00000466202.1	-	10	2158		c.e10-2		IQUB_ENST00000324698.6_Splice_Site|IQUB_ENST00000434450.1_Splice_Site	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing						cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)		p.?(2)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TTCATGTTCCTATATAAAACA	0.308																																							uc003vkn.2		NA																	2	Unknown(2)		lung(2)	ovary(3)|large_intestine(1)	4						c.e10-1		IQ motif and ubiquitin domain containing							77.0	85.0	82.0					7																	123105065		2202	4298	6500	SO:0001630	splice_region_variant	154865							g.chr7:123105065T>A	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.1582-2A>T	7.37:g.123105065T>A						IQUB_uc003vko.2_Splice_Site_p.E528_splice|IQUB_uc010lkt.2_Splice_Site|IQUB_uc003vkp.1_Splice_Site_p.E528_splice	p.E528_splice	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN			10	2159	-								A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Splice_Site	SNP	ENST00000466202.1	37	c.1582_splice	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.975137	0.53720	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7361	0.77846	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	IQUB	122892301	1.000000	0.71417	0.943000	0.38184	0.456000	0.32438	7.291000	0.78721	2.182000	0.69389	0.523000	0.50628	.		0.308	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827	Intron	102	74	0	0	0	0.00361	0	102	74				
ARF5	381	broad.mit.edu	37	7	127231266	127231266	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:127231266G>T	ENST00000000233.5	+	6	610		c.e6-1		FSCN3_ENST00000420086.2_5'Flank|GCC1_ENST00000497650.1_Intron|FSCN3_ENST00000265825.5_5'Flank	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5						GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.?(2)		cervix(2)|kidney(1)|lung(10)|ovary(1)	14						TTTCCCCACAGTGGTATGTCC	0.552																																							uc003vmb.1		NA																	2	Unknown(2)		lung(2)	ovary(1)	1						c.e6-1		ADP-ribosylation factor 5							56.0	51.0	53.0					7																	127231266		2203	4300	6503	SO:0001630	splice_region_variant	381				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr7:127231266G>T		CCDS34745.1	7q31.3	2008-07-18			ENSG00000004059	ENSG00000004059		"""ADP-ribosylation factors"""	658	protein-coding gene	gene with protein product		103188				1993656	Standard	NM_001662		Approved		uc003vmb.2	P84085	OTTHUMG00000023246	ENST00000000233.5:c.457-1G>T	7.37:g.127231266G>T						FSCN3_uc003vmc.1_5'Flank|FSCN3_uc011kog.1_5'Flank|FSCN3_uc011koh.1_5'Flank|FSCN3_uc003vmd.1_5'Flank|FSCN3_uc010llc.1_5'Flank	p.W153_splice	NM_001662	NP_001653	P84085	ARF5_HUMAN			6	493	+								P26437	Splice_Site	SNP	ENST00000000233.5	37	c.457_splice	CCDS34745.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587324	0.66105	.	.	ENSG00000004059	ENST00000000233	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2184	0.73288	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARF5	127018502	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.581000	0.82535	2.449000	0.82847	0.561000	0.74099	.		0.552	ARF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059567.2	NM_001662	Intron	38	48	1	0	8.73648e-17	0.004289	1.31047e-16	38	48				
CCDC136	64753	broad.mit.edu	37	7	128452070	128452071	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:128452070_128452071GG>TT	ENST00000297788.4	+	13	2612_2613	c.2245_2246GG>TT	c.(2245-2247)GGt>TTt	p.G749F	CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	749						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.G749F(4)|p.G749S(2)|p.G865F(2)|p.G865S(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GAAGAGCTATGGTAGCATGGTC	0.5																																							uc003vnv.1		NA																	9	Substitution - Missense(9)		lung(9)	ovary(2)	2						c.(2245-2247)GGT>TTT		coiled-coil domain containing 136																																				SO:0001583	missense	64753					integral to membrane	protein binding	g.chr7:128452070_128452071GG>TT		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	Exception_encountered	7.37:g.128452070_128452071delinsTT	ENSP00000297788:p.Gly749Phe					CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Missense_Mutation_p.G565F|CCDC136_uc010llq.1_Missense_Mutation_p.G118F|CCDC136_uc003vny.1_Missense_Mutation_p.G359F	p.G749F	NM_022742	NP_073579	Q96JN2	CC136_HUMAN			13	2612_2613	+			749					A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	DNP	ENST00000297788.4	37	c.2245_2246GG>TT	CCDS47704.1																																																																																				0.500	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		83	64	0	0	0	0.004672	0	83	64				
FLNC	2318	broad.mit.edu	37	7	128486498	128486498	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:128486498C>A	ENST00000325888.8	+	23	4369	c.4108C>A	c.(4108-4110)Cga>Aga	p.R1370R	FLNC_ENST00000346177.6_Silent_p.R1370R	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1370					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)	p.R1370R(2)		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						CAAGGCCAACCGATTCACTGT	0.642																																							uc003vnz.3		NA																	2	Substitution - coding silent(2)		lung(2)	breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(4108-4110)CGA>AGA		gamma filamin isoform a							55.0	59.0	58.0					7																	128486498		2071	4176	6247	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128486498C>A	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.4108C>A	7.37:g.128486498C>A						FLNC_uc003voa.3_Silent_p.R1370R	p.R1370R	NM_001458	NP_001449	Q14315	FLNC_HUMAN			23	4317	+			1370			Filamin 12.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.4108C>A	CCDS43644.1																																																																																				0.642	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			53	63	1	0	5.10508e-28	0.00361	8.87699e-28	53	63				
FLNC	2318	broad.mit.edu	37	7	128487758	128487758	+	Silent	SNP	G	G	A	rs370827536		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:128487758G>A	ENST00000325888.8	+	25	4557	c.4296G>A	c.(4294-4296)ccG>ccA	p.P1432P	FLNC_ENST00000346177.6_Silent_p.P1432P|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1432					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)	p.P1432P(3)		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						CAGGGAGCCCGTTCCGCGTGC	0.647																																							uc003vnz.3		NA																	3	Substitution - coding silent(3)		lung(2)|prostate(1)	breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(4294-4296)CCG>CCA		gamma filamin isoform a		G	,	1,3973		0,1,1986	59.0	63.0	62.0		4296,4296	-10.2	0.3	7		62	1,8323		0,1,4161	no	coding-synonymous,coding-synonymous	FLNC	NM_001127487.1,NM_001458.4	,	0,2,6147	AA,AG,GG		0.012,0.0252,0.0163	,	1432/2693,1432/2726	128487758	2,12296	1987	4162	6149	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128487758G>A	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.4296G>A	7.37:g.128487758G>A						FLNC_uc003voa.3_Silent_p.P1432P	p.P1432P	NM_001458	NP_001449	Q14315	FLNC_HUMAN			25	4505	+			1432			Filamin 12.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.4296G>A	CCDS43644.1																																																																																				0.647	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			21	125	0	0	0	0.001882	0	21	125				
TSGA13	114960	broad.mit.edu	37	7	130353924	130353924	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:130353924G>T	ENST00000456951.1	-	9	1609	c.758C>A	c.(757-759)cCc>cAc	p.P253H	COPG2_ENST00000445977.2_5'Flank|TSGA13_ENST00000356588.3_Missense_Mutation_p.P253H			Q96PP4	TSG13_HUMAN	testis specific, 13	253								p.P253H(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					GCTCTCCCCGGGCGCGGTTCT	0.597																																							uc003vqi.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(757-759)CCC>CAC		testis specific, 13							101.0	105.0	103.0					7																	130353924		2203	4300	6503	SO:0001583	missense	114960							g.chr7:130353924G>T	AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999	ENST00000456951.1:c.758C>A	7.37:g.130353924G>T	ENSP00000406047:p.Pro253His					COPG2_uc003vqh.1_5'Flank|TSGA13_uc003vqj.2_Missense_Mutation_p.P253H	p.P253H	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN			8	1215	-	Melanoma(18;0.0435)		253					B3KSC9	Missense_Mutation	SNP	ENST00000456951.1	37	c.758C>A	CCDS5824.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709200	0.48517	.	.	ENSG00000213265	ENST00000456951;ENST00000356588	.	.	.	5.44	4.56	0.56223	.	0.437310	0.19468	N	0.113531	T	0.49184	0.1542	L	0.32530	0.975	0.09310	N	1	D	0.76494	0.999	D	0.66351	0.943	T	0.35943	-0.9768	9	0.66056	D	0.02	-1.2073	9.7364	0.40390	0.095:0.0:0.905:0.0	.	253	Q96PP4	TSG13_HUMAN	H	253	.	ENSP00000348996:P253H	P	-	2	0	TSGA13	130004464	0.980000	0.34600	0.009000	0.14445	0.105000	0.19272	3.331000	0.52075	1.292000	0.44672	0.561000	0.74099	CCC		0.597	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337997.1	NM_052933		166	117	1	0	4.49191e-84	0.00361	9.32542e-84	166	117				
PLXNA4	91584	broad.mit.edu	37	7	131830026	131830026	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:131830026C>A	ENST00000359827.3	-	29	6039	c.5077G>T	c.(5077-5079)Gat>Tat	p.D1693Y	PLXNA4_ENST00000321063.4_Missense_Mutation_p.D1693Y			Q9HCM2	PLXA4_HUMAN	plexin A4	1693					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.D1693Y(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AAGAGGTCATCCACAAACTTC	0.537																																							uc003vra.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(5077-5079)GAT>TAT		plexin A4 isoform 1							91.0	87.0	89.0					7																	131830026		2203	4300	6503	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131830026C>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.5077G>T	7.37:g.131830026C>A	ENSP00000352882:p.Asp1693Tyr					PLXNA4_uc003vqz.3_5'UTR	p.D1693Y	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			29	5306	-			1693			Cytoplasmic (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.5077G>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842838	0.91197	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.18016	2.24;2.24	5.05	5.05	0.67936	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.108992	0.64402	D	0.000017	T	0.51686	0.1689	M	0.91717	3.235	0.80722	D	1	D	0.65815	0.995	D	0.70935	0.971	T	0.64437	-0.6408	10	0.87932	D	0	.	18.0111	0.89224	0.0:1.0:0.0:0.0	.	1693	Q9HCM2	PLXA4_HUMAN	Y	1693	ENSP00000323194:D1693Y;ENSP00000352882:D1693Y	ENSP00000323194:D1693Y	D	-	1	0	PLXNA4	131480566	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.348000	0.79779	0.561000	0.74099	GAT		0.537	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		26	24	1	0	4.59853e-10	0.005443	6.00669e-10	26	24				
NUP205	23165	broad.mit.edu	37	7	135304240	135304240	+	Missense_Mutation	SNP	C	C	T	rs533949096		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:135304240C>T	ENST00000285968.6	+	29	4059	c.4033C>T	c.(4033-4035)Cac>Tac	p.H1345Y		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1345					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.H1345Y(2)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ACTGACTGCTCACCTAAGCCA	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		17247	0.0		0.001	False		,,,				2504	0.0						uc003vsw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(4033-4035)CAC>TAC		nucleoporin 205kDa							118.0	112.0	114.0					7																	135304240		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135304240C>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.4033C>T	7.37:g.135304240C>T	ENSP00000285968:p.His1345Tyr					NUP205_uc003vsx.2_5'Flank	p.H1345Y	NM_015135	NP_055950	Q92621	NU205_HUMAN			29	4064	+			1345					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.4033C>T	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265716	0.80358	.	.	ENSG00000155561	ENST00000285968	T	0.30981	1.51	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.52289	0.1725	L	0.56769	1.78	0.80722	D	1	D	0.71674	0.998	D	0.63488	0.915	T	0.45041	-0.9288	10	0.48119	T	0.1	-17.0475	19.7714	0.96367	0.0:1.0:0.0:0.0	.	1345	Q92621	NU205_HUMAN	Y	1345	ENSP00000285968:H1345Y	ENSP00000285968:H1345Y	H	+	1	0	NUP205	134954780	1.000000	0.71417	0.992000	0.48379	0.392000	0.30506	7.607000	0.82883	2.672000	0.90937	0.484000	0.47621	CAC		0.502	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			19	101	0	0	0	0.007413	0	19	101				
MGAM	8972	broad.mit.edu	37	7	141755521	141755521	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:141755521C>A	ENST00000549489.2	+	28	3573	c.3478C>A	c.(3478-3480)Cca>Aca	p.P1160T	MGAM_ENST00000475668.2_Missense_Mutation_p.P1160T	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1160	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.P1160T(6)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGACCAGCCCCCAGGGGTAAG	0.547																																							uc003vwy.2		NA																	6	Substitution - Missense(6)		lung(6)	ovary(2)	2						c.(3478-3480)CCA>ACA		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						51.0	49.0	50.0					7																	141755521		1920	4132	6052	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141755521C>A	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3478C>A	7.37:g.141755521C>A	ENSP00000447378:p.Pro1160Thr						p.P1160T	NM_004668	NP_004659	O43451	MGA_HUMAN			28	3532	+	Melanoma(164;0.0272)		1160			Glucoamylase.|Lumenal (Potential).		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.3478C>A	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.149823	0.78001	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.83992	-1.79	4.25	4.25	0.50352	Glycoside hydrolase-type carbohydrate-binding (1);	0.512956	0.14715	N	0.302711	D	0.89553	0.6748	M	0.79123	2.44	0.48632	D	0.999683	D	0.62365	0.991	P	0.58454	0.839	D	0.90627	0.4564	10	0.87932	D	0	.	15.3957	0.74790	0.0:1.0:0.0:0.0	.	1160	O43451	MGA_HUMAN	T	1160;1160;1037	ENSP00000447378:P1160T	ENSP00000316431:P1037T	P	+	1	0	MGAM	141401990	1.000000	0.71417	0.775000	0.31657	0.976000	0.68499	7.601000	0.82783	1.895000	0.54865	0.467000	0.42956	CCA		0.547	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			51	57	1	0	5.13769e-22	0.00361	8.27486e-22	51	57				
MGAM	8972	broad.mit.edu	37	7	141759688	141759688	+	Silent	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:141759688T>C	ENST00000549489.2	+	33	4076	c.3981T>C	c.(3979-3981)ccT>ccC	p.P1327P	MGAM_ENST00000475668.2_Silent_p.P1327P	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1327	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.P1327P(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGACACAGCCTTATCCTGCCT	0.463																																							uc003vwy.2		NA																	2	Substitution - coding silent(2)		prostate(2)	ovary(2)	2						c.(3979-3981)CCT>CCC		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						50.0	43.0	45.0					7																	141759688		1935	4135	6070	SO:0001819	synonymous_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141759688T>C	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3981T>C	7.37:g.141759688T>C							p.P1327P	NM_004668	NP_004659	O43451	MGA_HUMAN			33	4035	+	Melanoma(164;0.0272)		1327			Glucoamylase.|Lumenal (Potential).		Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.3981T>C	CCDS47727.1																																																																																				0.463	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			3	35	0	0	0	0.004672	0	3	35				
EPHA1	2041	broad.mit.edu	37	7	143096426	143096426	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:143096426C>A	ENST00000275815.3	-	5	1002	c.916G>T	c.(916-918)Gag>Tag	p.E306*		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	306	Cys-rich.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)	p.E306*(4)|p.E306K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GTGGCCCCCTCAGACTCAGCA	0.657																																							uc003wcz.2		NA																	6	Substitution - Nonsense(4)|Substitution - Missense(2)		lung(4)|urinary_tract(2)	ovary(3)|lung(1)|breast(1)	5						c.(916-918)GAG>TAG		ephrin receptor EphA1 precursor							40.0	41.0	41.0					7																	143096426		2203	4300	6503	SO:0001587	stop_gained	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143096426C>A	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.916G>T	7.37:g.143096426C>A	ENSP00000275815:p.Glu306*						p.E306*	NM_005232	NP_005223	P21709	EPHA1_HUMAN			5	1003	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	306			Extracellular (Potential).|Cys-rich.		A1L3V3|B5A966|B5A967|Q15405	Nonsense_Mutation	SNP	ENST00000275815.3	37	c.916G>T	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.243233	0.58995	.	.	ENSG00000146904	ENST00000275815	.	.	.	5.21	2.47	0.30058	.	0.839949	0.10554	N	0.661011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	2.7556	0.05292	0.1331:0.5314:0.1166:0.2189	.	.	.	.	X	306	.	ENSP00000275815:E306X	E	-	1	0	EPHA1	142806548	0.140000	0.22579	0.207000	0.23584	0.001000	0.01503	1.022000	0.30052	0.360000	0.24265	-0.806000	0.03193	GAG		0.657	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			62	37	1	0	5.0973e-17	0.00361	7.73091e-17	62	37				
CSMD1	64478	broad.mit.edu	37	8	2876097	2876097	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:2876097G>C	ENST00000520002.1	-	53	8489	c.7934C>G	c.(7933-7935)gCt>gGt	p.A2645G	CSMD1_ENST00000602557.1_Missense_Mutation_p.A2645G|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.A2644G|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000400186.3_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2645	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.A2644G(2)|p.A2373G(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CGTAAATATAGCTGTGGCCCC	0.483																																							uc011kwk.1		NA																	4	Substitution - Missense(4)		lung(4)	breast(20)|large_intestine(5)	25						c.(7933-7935)GCT>GGT		CUB and Sushi multiple domains 1 precursor							165.0	161.0	162.0					8																	2876097		1959	4153	6112	SO:0001583	missense	64478					integral to membrane		g.chr8:2876097G>C			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7934C>G	8.37:g.2876097G>C	ENSP00000430733:p.Ala2645Gly					CSMD1_uc011kwj.1_Missense_Mutation_p.A1974G|CSMD1_uc010lrg.2_Intron	p.A2645G	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	52	8324	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2645			Extracellular (Potential).|Sushi 17.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.7934C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.02|19.02	3.745676|3.745676	0.69418|0.69418	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000520002;ENST00000318252;ENST00000537824|ENST00000335551	T;T|.	0.65732|.	-0.17;-0.17|.	5.19|5.19	5.19|5.19	0.71726|0.71726	Complement control module (2);Sushi/SCR/CCP (3);|.	0.076957|.	0.52532|.	D|.	0.000075|.	D|D	0.86598|0.86598	0.5971|0.5971	M|M	0.93062|0.93062	3.375|3.375	0.80722|0.80722	D|D	1|1	D;D|.	0.55172|.	0.958;0.97|.	P;D|.	0.66847|.	0.689;0.947|.	D|D	0.89714|0.89714	0.3914|0.3914	10|5	0.87932|.	D|.	0|.	.|.	19.093|19.093	0.93235|0.93235	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2645;2645|.	E5RIG2;Q96PZ7|.	.;CSMD1_HUMAN|.	G|R	2645;2506;2644|2061	ENSP00000430733:A2645G;ENSP00000441462:A2644G|.	ENSP00000320445:A2506G|.	A|S	-|-	2|3	0|2	CSMD1|CSMD1	2863504|2863504	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.014000|0.014000	0.08584|0.08584	9.546000|9.546000	0.98097|0.98097	2.578000|2.578000	0.87016|0.87016	0.655000|0.655000	0.94253|0.94253	GCT|AGC		0.483	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		42	237	0	0	0	0.00361	0	42	237				
XKR6	286046	broad.mit.edu	37	8	10755798	10755798	+	Silent	SNP	C	C	A	rs61745501		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:10755798C>A	ENST00000416569.2	-	3	1616	c.1590G>T	c.(1588-1590)gcG>gcT	p.A530A	XKR6_ENST00000304437.2_Silent_p.A251A	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	530						integral component of membrane (GO:0016021)		p.A530A(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GGATCTCAGGCGCCATGGGCT	0.612																																							uc003wtk.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(1588-1590)GCG>GCT		XK, Kell blood group complex subunit-related							46.0	37.0	40.0					8																	10755798		2203	4300	6503	SO:0001819	synonymous_variant	286046					integral to membrane		g.chr8:10755798C>A	BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 7"", ""chromosome 8 open reading frame 21"", ""X Kell blood group precursor-related family, member 6"", ""chromosome 8 open reading frame 5"""	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.1590G>T	8.37:g.10755798C>A							p.A530A	NM_173683	NP_775954	Q5GH73	XKR6_HUMAN		Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)	3	1617	-			530					Q8TBA0	Silent	SNP	ENST00000416569.2	37	c.1590G>T	CCDS5978.2	.	.	.	.	.	.	.	.	.	.	C	3.922	-0.017886	0.07681	.	.	ENSG00000171044	ENST00000382461	.	.	.	4.78	-1.09	0.09904	.	.	.	.	.	T	0.50274	0.1606	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36553	-0.9743	4	.	.	.	-20.7634	5.4426	0.16517	0.1293:0.3717:0.0:0.499	.	.	.	.	L	307	.	.	R	-	2	0	XKR6	10793208	0.896000	0.30565	0.990000	0.47175	0.908000	0.53690	-0.019000	0.12546	-0.457000	0.07033	0.561000	0.74099	CGC		0.612	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683		23	46	1	0	7.88262e-20	0.00333	1.24751e-19	23	46				
GATA4	2626	broad.mit.edu	37	8	11607724	11607724	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:11607724C>G	ENST00000335135.4	+	4	1446	c.888C>G	c.(886-888)ggC>ggG	p.G296G	GATA4_ENST00000532059.1_Silent_p.G297G|GATA4_ENST00000528712.1_Silent_p.G90G	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	296			G -> C (in ASD2). {ECO:0000269|PubMed:17643447}.|G -> R (in VSD1). {ECO:0000269|PubMed:21637914}.|G -> S (in ASD2). {ECO:0000269|PubMed:12845333, ECO:0000269|PubMed:15810002}.		atrial septum morphogenesis (GO:0060413)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle morphogenesis (GO:0003208)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion development (GO:0003197)|endoderm development (GO:0007492)|endoderm formation (GO:0001706)|epithelial cell fate commitment (GO:0072148)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|lung lobe formation (GO:0060464)|male gonad development (GO:0008584)|negative regulation of autophagy (GO:0010507)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to mechanical stimulus (GO:0009612)|seminiferous tubule development (GO:0072520)|Sertoli cell differentiation (GO:0060008)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G296G(2)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		ATGCCTGCGGCCTCTACATGA	0.637																																							uc003wuc.2		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(886-888)GGC>GGG		GATA binding protein 4							66.0	51.0	56.0					8																	11607724		2203	4300	6503	SO:0001819	synonymous_variant	2626				atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:11607724C>G	AK097060	CCDS5983.1	8p23.1-p22	2013-01-25	2001-11-28		ENSG00000136574	ENSG00000136574		"""GATA zinc finger domain containing"""	4173	protein-coding gene	gene with protein product		600576	"""GATA-binding protein 4"""			7665171	Standard	NM_002052		Approved		uc003wuc.2	P43694	OTTHUMG00000090800	ENST00000335135.4:c.888C>G	8.37:g.11607724C>G						GATA4_uc003wub.1_Silent_p.G90G|GATA4_uc011kxc.1_Silent_p.G297G	p.G296G	NM_002052	NP_002043	P43694	GATA4_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)	4	1442	+	all_epithelial(15;0.0839)		296		G -> S (in ASD2).			B7ZKX0|B7ZKZ4|Q3MJ45|Q5IFM8	Silent	SNP	ENST00000335135.4	37	c.888C>G	CCDS5983.1																																																																																				0.637	GATA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207587.2	NM_002052		33	58	0	0	0	0.003271	0	33	58				
ZNF705D	728957	broad.mit.edu	37	8	11970596	11970596	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:11970596C>A	ENST00000400085.3	+	6	948	c.832C>A	c.(832-834)Cac>Aac	p.H278N	FAM66D_ENST00000434078.2_RNA|FAM66D_ENST00000530099.2_RNA	NM_001039615.3	NP_001034704.2	P0CH99	Z705D_HUMAN	zinc finger protein 705D	278					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H278N(2)		endometrium(1)|lung(2)	3						CAAAATAATTCACATTGGAGA	0.428																																							uc003wva.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(832-834)CAC>AAC		zinc finger protein 705D							30.0	24.0	26.0					8																	11970596		2080	3732	5812	SO:0001583	missense	728957				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:11970596C>A	BC110823	CCDS43712.1	8p23.1	2013-01-08			ENSG00000215343	ENSG00000215343		"""Zinc fingers, C2H2-type"", ""-"""	33202	protein-coding gene	gene with protein product							Standard	NM_001039615		Approved		uc003wva.3	P0CH99	OTTHUMG00000165474	ENST00000400085.3:c.832C>A	8.37:g.11970596C>A	ENSP00000382957:p.His278Asn					FAM66D_uc011kxp.1_5'Flank|FAM66D_uc011kxo.1_5'Flank	p.H278N	NM_001039615	NP_001034704	P0CH99	Z705D_HUMAN			7	1254	+			278			C2H2-type 4; degenerate.		A8K971|A8MY01|Q2TAN0	Missense_Mutation	SNP	ENST00000400085.3	37	c.832C>A	CCDS43712.1	.	.	.	.	.	.	.	.	.	.	-	13.56	2.274771	0.40194	.	.	ENSG00000215343	ENST00000400085	T	0.26660	1.72	0.744	0.744	0.18353	Zinc finger, C2H2 (1);	.	.	.	.	T	0.52208	0.1720	M	0.90542	3.125	0.26315	N	0.977762	D	0.54772	0.968	D	0.70487	0.969	T	0.33828	-0.9853	9	0.87932	D	0	.	7.382	0.26862	0.0:1.0:0.0:0.0	.	278	P0CH99	Z705D_HUMAN	N	278	ENSP00000382957:H278N	ENSP00000382957:H278N	H	+	1	0	ZNF705D	12008005	1.000000	0.71417	0.004000	0.12327	0.012000	0.07955	5.698000	0.68302	0.715000	0.32103	0.384000	0.25694	CAC		0.428	ZNF705D-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383411.1	NM_001039615		10	66	1	0	1.15088e-07	0.004007	1.40263e-07	10	66				
LZTS1	11178	broad.mit.edu	37	8	20112440	20112440	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:20112440G>T	ENST00000381569.1	-	2	610	c.253C>A	c.(253-255)Ctg>Atg	p.L85M	LZTS1_ENST00000265801.6_Missense_Mutation_p.L85M|LZTS1_ENST00000522290.1_Missense_Mutation_p.L85M			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	85					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L85M(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CCGCTGGACAGTGCCGTGTAA	0.577																																							uc003wzr.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(253-255)CTG>ATG		leucine zipper, putative tumor suppressor 1							64.0	60.0	62.0					8																	20112440		2203	4300	6503	SO:0001583	missense	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20112440G>T	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.253C>A	8.37:g.20112440G>T	ENSP00000370981:p.Leu85Met					LZTS1_uc010ltg.1_Missense_Mutation_p.L85M	p.L85M	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	1	364	-			85					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	c.253C>A	CCDS6015.1	.	.	.	.	.	.	.	.	.	.	G	9.547	1.115006	0.20795	.	.	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.22539	2.27;2.27;1.95	5.98	2.43	0.29744	.	1.784950	0.02590	N	0.099910	T	0.26268	0.0641	N	0.08118	0	0.23802	N	0.996801	D;D	0.76494	0.998;0.999	P;D	0.68765	0.904;0.96	T	0.34004	-0.9846	10	0.49607	T	0.09	-23.4651	6.4674	0.21990	0.2868:0.1331:0.58:0.0	.	85;85	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	M	85	ENSP00000370981:L85M;ENSP00000265801:L85M;ENSP00000429263:L85M	ENSP00000265801:L85M	L	-	1	2	LZTS1	20156720	0.994000	0.37717	0.681000	0.30009	0.551000	0.35334	2.268000	0.43338	0.678000	0.31325	0.650000	0.86243	CTG		0.577	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		35	71	1	0	3.62531e-18	0.004289	5.63937e-18	35	71				
TNFRSF10C	8794	broad.mit.edu	37	8	22969320	22969320	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:22969320G>A	ENST00000356864.3	+	2	680	c.148G>A	c.(148-150)Ggg>Agg	p.G50R	TNFRSF10C_ENST00000520607.1_3'UTR|TNFRSF10C_ENST00000540813.1_Intron	NM_003841.3	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	50					apoptotic process (GO:0006915)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)	p.G50R(1)		endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CAGCTTCAAGGGGGAGGAGTG	0.463																																							uc003xcy.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(148-150)GGG>AGG		tumor necrosis factor receptor superfamily,							74.0	63.0	67.0					8																	22969320		2203	4300	6503	SO:0001583	missense	8794				apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity	g.chr8:22969320G>A	AF012536	CCDS6037.1	8p22-p21	2006-02-22			ENSG00000173535	ENSG00000173535		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11906	protein-coding gene	gene with protein product		603613				9314565, 9325248	Standard	NM_003841		Approved	DcR1, TRAILR3, LIT, TRID, CD263	uc003xcy.3	O14798	OTTHUMG00000097844	ENST00000356864.3:c.148G>A	8.37:g.22969320G>A	ENSP00000349324:p.Gly50Arg					TNFRSF10C_uc011kzr.1_Intron	p.G50R	NM_003841	NP_003832	O14798	TR10C_HUMAN		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)	2	349	+		Prostate(55;0.0421)|Breast(100;0.067)	50			TNFR-Cys 1.		O14755|Q08AS6|Q6FH98|Q6UXM5	Missense_Mutation	SNP	ENST00000356864.3	37	c.148G>A	CCDS6037.1	.	.	.	.	.	.	.	.	.	.	G	5.467	0.271162	0.10349	.	.	ENSG00000173535	ENST00000356864;ENST00000544885	T	0.41758	0.99	1.63	0.65	0.17812	.	.	.	.	.	T	0.25232	0.0613	N	0.17082	0.46	0.09310	N	1	D	0.59357	0.985	P	0.47827	0.558	T	0.11251	-1.0595	9	0.09084	T	0.74	.	5.5966	0.17331	0.0:0.3512:0.6488:0.0	.	50	O14798	TR10C_HUMAN	R	50	ENSP00000349324:G50R	ENSP00000349324:G50R	G	+	1	0	TNFRSF10C	23025265	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.326000	0.19646	0.206000	0.20587	0.400000	0.26472	GGG		0.463	TNFRSF10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215134.3			6	59	0	0	0	0.00308	0	6	59				
ADAM7	8756	broad.mit.edu	37	8	24350690	24350690	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:24350690A>T	ENST00000175238.6	+	16	1873	c.1790A>T	c.(1789-1791)gAt>gTt	p.D597V	RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.D369V|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.D597V	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	597	Cys-rich.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D597V(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTATACCATGATTCTACAGAC	0.403																																							uc003xeb.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)|kidney(1)	5						c.(1789-1791)GAT>GTT		a disintegrin and metalloproteinase domain 7							87.0	87.0	87.0					8																	24350690		2203	4299	6502	SO:0001583	missense	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24350690A>T	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.1790A>T	8.37:g.24350690A>T	ENSP00000175238:p.Asp597Val					ADAM7_uc003xec.2_Missense_Mutation_p.D369V	p.D597V	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	16	1903	+		Prostate(55;0.0181)	597			Extracellular (Potential).|Cys-rich.		A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	c.1790A>T	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	A	2.326	-0.354394	0.05173	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	T;T;T	0.24350	1.86;1.86;1.86	5.64	4.48	0.54585	ADAM, cysteine-rich (2);	0.591334	0.16151	N	0.227262	T	0.25717	0.0626	L	0.58354	1.805	0.09310	N	0.999999	P;P	0.42584	0.642;0.784	B;B	0.40009	0.316;0.316	T	0.20940	-1.0260	10	0.66056	D	0.02	.	7.1725	0.25726	0.8278:0.0:0.1722:0.0	.	369;597	E5RK87;Q9H2U9	.;ADAM7_HUMAN	V	597;597;369;412	ENSP00000175238:D597V;ENSP00000370166:D597V;ENSP00000430400:D369V	ENSP00000175238:D597V	D	+	2	0	ADAM7	24406580	0.000000	0.05858	0.654000	0.29608	0.012000	0.07955	0.894000	0.28350	0.979000	0.38497	0.455000	0.32223	GAT		0.403	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		24	49	0	0	0	0.00333	0	24	49				
PTK2B	2185	broad.mit.edu	37	8	27312084	27312084	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:27312084G>T	ENST00000397501.1	+	35	3578	c.2770G>T	c.(2770-2772)Gtg>Ttg	p.V924L	PTK2B_ENST00000544172.1_Missense_Mutation_p.V924L|PTK2B_ENST00000346049.5_Missense_Mutation_p.V924L|PTK2B_ENST00000517339.1_Missense_Mutation_p.V882L|PTK2B_ENST00000420218.2_Missense_Mutation_p.V882L|PTK2B_ENST00000338238.4_Missense_Mutation_p.V882L	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	924	Focal adhesion targeting (FAT).|Interaction with TGFB1I1. {ECO:0000250}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)	p.V924L(4)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	CATCGGGAGCGTGGATGATCT	0.587																																							uc003xfn.1		NA																	4	Substitution - Missense(4)		lung(4)	lung(3)|ovary(1)|skin(1)	5						c.(2770-2772)GTG>TTG		PTK2B protein tyrosine kinase 2 beta isoform a							95.0	71.0	79.0					8																	27312084		2203	4300	6503	SO:0001583	missense	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27312084G>T	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.2770G>T	8.37:g.27312084G>T	ENSP00000380638:p.Val924Leu					PTK2B_uc003xfo.1_Missense_Mutation_p.V924L|PTK2B_uc003xfp.1_Missense_Mutation_p.V924L|PTK2B_uc003xfq.1_Missense_Mutation_p.V882L	p.V924L	NM_173174	NP_775266	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	35	3578	+		Ovarian(32;2.72e-05)	924			Focal adhesion targeting (FAT).|Interaction with TGFB1I1 (By similarity).		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	ENST00000397501.1	37	c.2770G>T	CCDS6057.1	.	.	.	.	.	.	.	.	.	.	G	33	5.283325	0.95489	.	.	ENSG00000120899	ENST00000397501;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000517339	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	6.06	5.18	0.71444	Focal adhesion kinase, targeting (FAT) domain (3);	0.000000	0.85682	D	0.000000	T	0.64170	0.2574	M	0.78801	2.425	0.80722	D	1	D;P	0.53462	0.96;0.937	P;D	0.64687	0.85;0.928	T	0.69250	-0.5194	10	0.87932	D	0	.	14.4728	0.67529	0.0:0.0:0.8518:0.1482	.	882;924	Q14289-2;Q14289	.;FAK2_HUMAN	L	924;882;924;924;882;882	ENSP00000380638:V924L;ENSP00000342242:V882L;ENSP00000440926:V924L;ENSP00000332816:V924L;ENSP00000391995:V882L;ENSP00000427931:V882L	ENSP00000342242:V882L	V	+	1	0	PTK2B	27368001	1.000000	0.71417	0.904000	0.35570	0.924000	0.55760	9.521000	0.98029	1.548000	0.49413	0.650000	0.86243	GTG		0.587	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		11	75	1	0	2.80697e-09	0.010729	3.5642e-09	11	75				
GOT1L1	137362	broad.mit.edu	37	8	37794885	37794885	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:37794885G>T	ENST00000307599.4	-	4	528	c.429C>A	c.(427-429)ttC>ttA	p.F143L	GOT1L1_ENST00000518826.1_5'Flank	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	143					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.F143L(4)		central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			CCATGTCCTGGAAGACGAGTC	0.542																																							uc011lbj.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(427-429)TTC>TTA		glutamic-oxaloacetic transaminase 1-like 1							44.0	45.0	44.0					8																	37794885		1984	4157	6141	SO:0001583	missense	137362				biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	g.chr8:37794885G>T	BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.429C>A	8.37:g.37794885G>T	ENSP00000303077:p.Phe143Leu						p.F143L	NM_152413	NP_689626	Q8NHS2	AATC2_HUMAN	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		4	529	-	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	143					A8MWL4	Missense_Mutation	SNP	ENST00000307599.4	37	c.429C>A	CCDS47839.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978814	0.53720	.	.	ENSG00000169154	ENST00000307599	D	0.90069	-2.61	5.04	5.04	0.67666	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.90559	0.7041	M	0.73753	2.245	0.80722	D	1	P	0.48834	0.916	P	0.48141	0.568	D	0.91643	0.5328	10	0.66056	D	0.02	-11.7731	13.9179	0.63911	0.0:0.0:1.0:0.0	.	143	Q8NHS2	AATC2_HUMAN	L	143	ENSP00000303077:F143L	ENSP00000303077:F143L	F	-	3	2	GOT1L1	37914042	1.000000	0.71417	1.000000	0.80357	0.089000	0.18198	4.672000	0.61597	2.359000	0.80004	0.549000	0.68633	TTC		0.542	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376823.1	NM_152413		11	15	1	0	1.58986e-06	0.008291	1.85484e-06	11	15				
SNTG1	54212	broad.mit.edu	37	8	51351136	51351136	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:51351136G>A	ENST00000522124.1	+	5	857	c.196G>A	c.(196-198)Gga>Aga	p.G66R	SNTG1_ENST00000518864.1_Missense_Mutation_p.G66R|SNTG1_ENST00000517473.1_Missense_Mutation_p.G66R|SNTG1_ENST00000276467.5_Missense_Mutation_p.G66R	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	66	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)	p.G66R(4)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ACAAACAGTAGGAGGATTTGG	0.383																																							uc010lxy.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(5)	5						c.(196-198)GGA>AGA		syntrophin, gamma 1							105.0	87.0	93.0					8																	51351136		2202	4300	6502	SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51351136G>A	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.196G>A	8.37:g.51351136G>A	ENSP00000429842:p.Gly66Arg					SNTG1_uc003xqs.1_Missense_Mutation_p.G66R|SNTG1_uc010lxz.1_Missense_Mutation_p.G66R|SNTG1_uc011ldl.1_RNA	p.G66R	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN			6	567	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	66			PDZ.		Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	c.196G>A	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.443532	0.63067	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000523085;ENST00000276467	T;T;T;T;T	0.40756	1.47;1.47;1.47;1.02;1.47	4.7	3.82	0.43975	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.56411	0.1983	L	0.56396	1.775	0.58432	D	0.999999	D;P	0.76494	0.999;0.873	D;P	0.66979	0.948;0.759	T	0.57768	-0.7754	10	0.66056	D	0.02	.	10.934	0.47235	0.0:0.19:0.81:0.0	.	66;66	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	R	66	ENSP00000429276:G66R;ENSP00000429842:G66R;ENSP00000431123:G66R;ENSP00000429363:G66R;ENSP00000276467:G66R	ENSP00000276467:G66R	G	+	1	0	SNTG1	51513689	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	5.215000	0.65241	0.965000	0.38133	0.650000	0.86243	GGA		0.383	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			9	33	0	0	0	0.004482	0	9	33				
PXDNL	137902	broad.mit.edu	37	8	52287227	52287227	+	Missense_Mutation	SNP	C	C	A	rs375112290		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:52287227C>A	ENST00000356297.4	-	18	3722	c.3622G>T	c.(3622-3624)Ggt>Tgt	p.G1208C	PXDNL_ENST00000543296.1_Missense_Mutation_p.G1208C	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1208					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.G407C(2)|p.G1208C(2)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ACTCTTGTACCAGGAATCAGG	0.478																																							uc003xqu.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)|pancreas(1)	2						c.(3622-3624)GGT>TGT		peroxidasin homolog-like precursor							79.0	79.0	79.0					8																	52287227		1974	4154	6128	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52287227C>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3622G>T	8.37:g.52287227C>A	ENSP00000348645:p.Gly1208Cys					PXDNL_uc003xqt.3_RNA	p.G1208C	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			18	3723	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1208					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.3622G>T	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.003451	0.35320	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.80909	-1.43;-1.43	4.77	2.96	0.34315	.	0.000000	0.48767	D	0.000176	D	0.92545	0.7632	H	0.98612	4.28	0.40578	D	0.98136	D	0.89917	1.0	D	0.97110	1.0	D	0.91641	0.5327	10	0.87932	D	0	.	8.6	0.33738	0.0:0.8093:0.0:0.1907	.	1208	A1KZ92	PXDNL_HUMAN	C	1208	ENSP00000348645:G1208C;ENSP00000444865:G1208C	ENSP00000348645:G1208C	G	-	1	0	PXDNL	52449780	1.000000	0.71417	0.060000	0.19600	0.013000	0.08279	5.160000	0.64929	0.444000	0.26612	0.655000	0.94253	GGT		0.478	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		11	69	1	0	3.86212e-05	0.008291	4.29474e-05	11	69				
PXDNL	137902	broad.mit.edu	37	8	52320977	52320977	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:52320977G>T	ENST00000356297.4	-	17	3307	c.3207C>A	c.(3205-3207)gcC>gcA	p.A1069A	PXDNL_ENST00000543296.1_Silent_p.A1069A	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1069					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.A1069A(2)|p.A268A(2)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACCTAAGGTGGCATTCAGTC	0.468																																							uc003xqu.3		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(1)|pancreas(1)	2						c.(3205-3207)GCC>GCA		peroxidasin homolog-like precursor							52.0	56.0	55.0					8																	52320977		1911	4124	6035	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52320977G>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3207C>A	8.37:g.52320977G>T						PXDNL_uc003xqt.3_RNA	p.A1069A	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			17	3308	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1069					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.3207C>A	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	0.157	-1.085011	0.01888	.	.	ENSG00000147485	ENST00000522933	.	.	.	3.82	0.689	0.18033	.	.	.	.	.	T	0.40645	0.1125	.	.	.	0.51482	D	0.999922	.	.	.	.	.	.	T	0.23368	-1.0190	4	.	.	.	.	0.8185	0.01107	0.2292:0.1821:0.4027:0.186	.	.	.	.	Q	188	.	.	P	-	2	0	PXDNL	52483530	0.761000	0.28439	0.001000	0.08648	0.091000	0.18340	-0.137000	0.10389	0.129000	0.18514	-0.122000	0.15005	CCA		0.468	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		23	39	1	0	2.98393e-07	0.00278	3.57287e-07	23	39				
PRDM14	63978	broad.mit.edu	37	8	70981463	70981463	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:70981463G>T	ENST00000276594.2	-	2	834	c.633C>A	c.(631-633)ccC>ccA	p.P211P		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	211					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.P211P(2)		NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GCTCCAGGCTGGGAGTGACCC	0.592																																					NSCLC(129;99 1813 5906 40656 46114)	NSCLC(129;99 1813 5906 40656 46114)	uc003xym.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(631-633)CCC>CCA		PR domain containing 14							77.0	80.0	79.0					8																	70981463		2203	4300	6503	SO:0001819	synonymous_variant	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70981463G>T	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.633C>A	8.37:g.70981463G>T							p.P211P	NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		2	835	-	Breast(64;0.193)		211					Q86UX9	Silent	SNP	ENST00000276594.2	37	c.633C>A	CCDS6206.1																																																																																				0.592	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			47	110	1	0	1.47857e-17	0.00361	2.2677e-17	47	110				
DCAF4L2	138009	broad.mit.edu	37	8	88886197	88886197	+	Start_Codon_SNP	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:88886197C>A	ENST00000319675.3	-	1	99	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	1								p.M1I(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTTTGCTCTCCATTTCGTTCG	0.522																																							uc003ydz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1-3)ATG>ATT		WD repeat domain 21C							38.0	39.0	38.0					8																	88886197		2203	4300	6503	SO:0001582	initiator_codon_variant	138009							g.chr8:88886197C>A	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.3G>T	8.37:g.88886197C>A	ENSP00000316496:p.Met1Ile						p.M1I	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	100	-			1						Missense_Mutation	SNP	ENST00000319675.3	37	c.3G>T	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.673439	0.29693	.	.	ENSG00000176566	ENST00000319675	T	0.67171	-0.25	1.39	1.39	0.22231	.	0.040229	0.85682	D	0.000000	T	0.77592	0.4153	.	.	.	0.80722	D	1	D	0.65815	0.995	D	0.75020	0.985	T	0.77456	-0.2581	9	0.87932	D	0	.	8.2958	0.31984	0.0:1.0:0.0:0.0	.	1	Q8NA75	DC4L2_HUMAN	I	1	ENSP00000316496:M1I	ENSP00000316496:M1I	M	-	3	0	DCAF4L2	88955313	0.999000	0.42202	0.145000	0.22337	0.104000	0.19210	0.188000	0.17018	0.750000	0.32877	0.467000	0.42956	ATG		0.522	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418	Missense_Mutation	23	38	1	0	3.28513e-13	0.003954	4.6955e-13	23	38				
LRRC6	23639	broad.mit.edu	37	8	133673737	133673737	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:133673737G>T	ENST00000519595.1	-	2	245	c.147C>A	c.(145-147)ctC>ctA	p.L49L	LRRC6_ENST00000518642.1_Silent_p.L49L|LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000250173.1_Silent_p.L49L			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	49					cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.L49L(2)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TTTGAAGATAGAGAATTTTTA	0.358																																							uc003ytk.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|kidney(1)	2						c.(145-147)CTC>CTA		leucine rich repeat containing 6							43.0	45.0	44.0					8																	133673737		2203	4299	6502	SO:0001819	synonymous_variant	23639					cytoplasm		g.chr8:133673737G>T	U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"""leucine rich testes protein"""	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.147C>A	8.37:g.133673737G>T						LRRC6_uc003ytl.2_RNA	p.L49L	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		2	221	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		49			LRR 2.		Q13648|Q4G183	Silent	SNP	ENST00000519595.1	37	c.147C>A																																																																																					0.358	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472		10	60	1	0	2.17888e-05	0.006214	2.45799e-05	10	60				
TG	7038	broad.mit.edu	37	8	134042065	134042065	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:134042065G>T	ENST00000220616.4	+	41	7076		c.e41-1		TG_ENST00000519543.1_Splice_Site|TG_ENST00000377869.1_Splice_Site|TG_ENST00000542445.1_Splice_Site	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin						hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.?(2)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTTTTCTGAAGGGTCCGGAGA	0.572																																							uc003ytw.2		NA																	2	Unknown(2)		lung(2)	ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.e41-1		thyroglobulin precursor							39.0	44.0	42.0					8																	134042065		2203	4300	6503	SO:0001630	splice_region_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134042065G>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7037-1G>T	8.37:g.134042065G>T						TG_uc010mdw.2_Splice_Site_p.G1105_splice|TG_uc011ljb.1_Splice_Site_p.G715_splice|TG_uc011ljc.1_Splice_Site_p.G479_splice	p.G2346_splice	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	41	7078	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)						O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Splice_Site	SNP	ENST00000220616.4	37	c.7037_splice	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069643	0.76301	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000519178;ENST00000542445;ENST00000519543;ENST00000518108	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1576	0.86795	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TG	134111247	1.000000	0.71417	0.496000	0.27539	0.671000	0.39405	6.513000	0.73742	2.390000	0.81377	0.462000	0.41574	.		0.572	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	Intron	18	47	1	0	1.96292e-10	0.010504	2.59505e-10	18	47				
FAM135B	51059	broad.mit.edu	37	8	139151256	139151256	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:139151256A>T	ENST00000395297.1	-	18	4044	c.3874T>A	c.(3874-3876)Ttc>Atc	p.F1292I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1292								p.F1292I(4)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGGTAGAGGAAACATTTGCGC	0.448										HNSCC(54;0.14)																													uc003yuy.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(7)|skin(2)	9						c.(3874-3876)TTC>ATC		hypothetical protein LOC51059							132.0	126.0	128.0					8																	139151256		1878	4118	5996	SO:0001583	missense	51059							g.chr8:139151256A>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3874T>A	8.37:g.139151256A>T	ENSP00000378710:p.Phe1292Ile	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.F1193I|FAM135B_uc003yuz.2_RNA	p.F1292I	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		18	4045	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1292					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3874T>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	33	5.257998	0.95368	.	.	ENSG00000147724	ENST00000395297	T	0.52295	0.67	5.58	5.58	0.84498	Domain of unknown function DUF676, lipase-like (1);	0.000000	0.85682	D	0.000000	T	0.69611	0.3130	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74106	-0.3772	10	0.87932	D	0	-21.761	14.9336	0.70935	1.0:0.0:0.0:0.0	.	1292	Q49AJ0	F135B_HUMAN	I	1292	ENSP00000378710:F1292I	ENSP00000378710:F1292I	F	-	1	0	FAM135B	139220438	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.136000	0.66102	0.533000	0.62120	TTC		0.448	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		25	101	0	0	0	0.007291	0	25	101				
COL22A1	169044	broad.mit.edu	37	8	139688869	139688869	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:139688869C>T	ENST00000303045.6	-	41	3528	c.3082G>A	c.(3082-3084)Gga>Aga	p.G1028R	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1008R|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1028	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G1028R(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCAGGAGCTCCTCGATCCCCC	0.507										HNSCC(7;0.00092)																													uc003yvd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(3082-3084)GGA>AGA		collagen, type XXII, alpha 1							32.0	34.0	33.0					8																	139688869		2187	4276	6463	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139688869C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3082G>A	8.37:g.139688869C>T	ENSP00000303153:p.Gly1028Arg	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.G308R	p.G1028R	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		41	3529	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1028			Pro-rich.|Gly-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.3082G>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.587242	0.46110	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.99353	-4.63;-5.77	4.62	4.62	0.57501	.	0.000000	0.47455	U	0.000233	D	0.99588	0.9851	H	0.96943	3.91	0.49299	D	0.999773	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97830	1.0262	10	0.66056	D	0.02	.	13.1414	0.59436	0.0:1.0:0.0:0.0	.	1008;1028	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	R	1028;1008;721	ENSP00000303153:G1028R;ENSP00000387655:G1008R	ENSP00000303153:G1028R	G	-	1	0	COL22A1	139758051	0.998000	0.40836	0.989000	0.46669	0.563000	0.35712	3.778000	0.55371	2.527000	0.85204	0.563000	0.77884	GGA		0.507	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		4	3	0	0	0	0.009096	0	4	3				
BAI1	575	broad.mit.edu	37	8	143623594	143623594	+	Silent	SNP	G	G	T	rs372600299	byFrequency	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:143623594G>T	ENST00000517894.1	+	28	4893	c.3999G>T	c.(3997-3999)ctG>ctT	p.L1333L	BAI1_ENST00000323289.5_Silent_p.L1333L			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1333					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L1333L(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACTCGGAGCTGAGCCGGGCCC	0.642																																							uc003ywm.2		NA																	2	Substitution - coding silent(2)		lung(2)	lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8						c.(3997-3999)CTG>CTT		brain-specific angiogenesis inhibitor 1							54.0	64.0	61.0					8																	143623594		2053	4190	6243	SO:0001819	synonymous_variant	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143623594G>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3999G>T	8.37:g.143623594G>T							p.L1333L	NM_001702	NP_001693	O14514	BAI1_HUMAN			27	4182	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1333			Cytoplasmic (Potential).			Silent	SNP	ENST00000517894.1	37	c.3999G>T																																																																																					0.642	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		46	71	1	0	4.18559e-23	0.00361	6.90432e-23	46	71				
EPPK1	83481	broad.mit.edu	37	8	144942384	144942384	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:144942384G>A	ENST00000525985.1	-	2	5109	c.5038C>T	c.(5038-5040)Ctg>Ttg	p.L1680L				P58107	EPIPL_HUMAN	epiplakin 1	1680						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.L1680L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCTCCAGCAGGCGGATGCCG	0.687																																							uc003zaa.1		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(5038-5040)CTG>TTG		epiplakin 1							48.0	53.0	52.0					8																	144942384		2005	4150	6155	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144942384G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5038C>T	8.37:g.144942384G>A							p.L1680L	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	5051	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1680			Plectin 29.		Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.5038C>T																																																																																					0.687	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		24	110	0	0	0	0.00278	0	24	110				
RLN2	6019	broad.mit.edu	37	9	5300244	5300244	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:5300244T>A	ENST00000381627.3	-	2	800	c.412A>T	c.(412-414)Agt>Tgt	p.S138C	RLN2_ENST00000308420.3_3'UTR	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	138					female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.S138C(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		GCGGCTTCACTTTGTCTATTG	0.378																																							uc003zja.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(412-414)AGT>TGT		relaxin 2 isoform 1 preproprotein							123.0	122.0	122.0					9																	5300244		2203	4300	6503	SO:0001583	missense	6019				female pregnancy	extracellular region	hormone activity	g.chr9:5300244T>A		CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014		"""Endogenous ligands"""	10027	protein-coding gene	gene with protein product	"""relaxin H2"", ""prorelaxin H2"", ""relaxin, ovarian, of pregnancy"""	179740	"""relaxin 2 (H2)"""			6548703, 6548702	Standard	NM_134441		Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.412A>T	9.37:g.5300244T>A	ENSP00000371040:p.Ser138Cys					RLN2_uc003ziz.1_3'UTR	p.S138C	NM_134441	NP_604390	P04090	REL2_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)	2	412	-	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	138					A0AVM0|Q99936|Q9UCX3|Q9UQJ2	Missense_Mutation	SNP	ENST00000381627.3	37	c.412A>T	CCDS6460.1	.	.	.	.	.	.	.	.	.	.	T	11.07	1.530651	0.27387	.	.	ENSG00000107014	ENST00000381627	T	0.51574	0.7	3.33	-0.698	0.11280	Insulin-like (3);	0.940965	0.08860	N	0.883118	T	0.53417	0.1795	L	0.53249	1.67	0.09310	N	1	D	0.65815	0.995	D	0.63113	0.911	T	0.42361	-0.9456	10	0.56958	D	0.05	.	2.3852	0.04364	0.2309:0.363:0.0:0.4061	.	138	P04090	REL2_HUMAN	C	138	ENSP00000371040:S138C	ENSP00000371040:S138C	S	-	1	0	RLN2	5290244	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-1.312000	0.02720	-0.112000	0.11979	-0.262000	0.10625	AGT		0.378	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051619.1	NM_134441		41	139	0	0	0	0.006999	0	41	139				
TYRP1	7306	broad.mit.edu	37	9	12708116	12708116	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:12708116G>T	ENST00000388918.5	+	7	1510	c.1381G>T	c.(1381-1383)Gga>Tga	p.G461*	TYRP1_ENST00000381137.2_Nonsense_Mutation_p.G170*|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000473504.1_3'UTR|TYRP1_ENST00000381136.2_Nonsense_Mutation_p.G171*	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	461					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.G461*(2)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		AGACAACCTGGGATACACTTA	0.388									Oculocutaneous Albinism																														uc003zkv.3		NA																	2	Substitution - Nonsense(2)		lung(2)	lung(1)	1						c.(1381-1383)GGA>TGA		tyrosinase-related protein 1 precursor							85.0	85.0	85.0					9																	12708116		2203	4300	6503	SO:0001587	stop_gained	7306	Oculocutaneous_Albinism	Familial Cancer Database		melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	g.chr9:12708116G>T	L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.1381G>T	9.37:g.12708116G>T	ENSP00000373570:p.Gly461*						p.G461*	NM_000550	NP_000541	P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	7	1559	+		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)	461			Lumenal, melanosome (Potential).		P78468|P78469|Q13721|Q15679	Nonsense_Mutation	SNP	ENST00000388918.5	37	c.1381G>T	CCDS34990.1	.	.	.	.	.	.	.	.	.	.	G	45	12.058387	0.99631	.	.	ENSG00000107165	ENST00000381137;ENST00000388918;ENST00000381136	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.0429	19.7908	0.96456	0.0:0.0:1.0:0.0	.	.	.	.	X	170;461;171	.	ENSP00000370528:G171X	G	+	1	0	TYRP1	12698116	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.476000	0.97823	2.682000	0.91365	0.591000	0.81541	GGA		0.388	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		21	33	1	0	1.50039e-11	0.001882	2.04293e-11	21	33				
IFNA7	3444	broad.mit.edu	37	9	21202067	21202067	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:21202067C>A	ENST00000239347.3	-	1	137	c.98G>T	c.(97-99)cGt>cTt	p.R33L		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	33					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.R33L(2)		endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CCTCCTATTACGCAGGCTGTG	0.507																																							uc003zop.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(97-99)CGT>CTT		interferon, alpha 7 precursor							99.0	98.0	98.0					9																	21202067		2203	4300	6503	SO:0001583	missense	3444				blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21202067C>A		CCDS34995.1	9p22	2010-12-10			ENSG00000214042	ENSG00000214042		"""Interferons"""	5428	protein-coding gene	gene with protein product		147567				1385305	Standard	NM_021057		Approved	IFNA-J, IFN-alphaJ	uc003zop.1	P01567	OTTHUMG00000019662	ENST00000239347.3:c.98G>T	9.37:g.21202067C>A	ENSP00000239347:p.Arg33Leu					IFNA14_uc003zoo.1_Intron	p.R33L	NM_021057	NP_066401	P01567	IFNA7_HUMAN		GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	138	-			33					Q14607|Q5VV14	Missense_Mutation	SNP	ENST00000239347.3	37	c.98G>T	CCDS34995.1	.	.	.	.	.	.	.	.	.	.	C	8.368	0.834653	0.16820	.	.	ENSG00000214042	ENST00000239347	T	0.04862	3.54	2.48	-4.96	0.03038	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.628040	0.03262	N	0.183455	T	0.03011	0.0089	N	0.16567	0.415	0.09310	N	1	B	0.33288	0.406	B	0.30401	0.115	T	0.34329	-0.9833	10	0.10111	T	0.7	.	2.6265	0.04931	0.1294:0.5665:0.1468:0.1573	.	33	P01567	IFNA7_HUMAN	L	33	ENSP00000239347:R33L	ENSP00000239347:R33L	R	-	2	0	IFNA7	21192067	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.103000	0.01341	-1.589000	0.01625	-0.482000	0.04802	CGT		0.507	IFNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051891.1	NM_021057		24	150	1	0	3.83957e-06	0.00278	4.4228e-06	24	150				
TAF1L	138474	broad.mit.edu	37	9	32632739	32632739	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:32632739G>A	ENST00000242310.4	-	1	2928	c.2839C>T	c.(2839-2841)Cac>Tac	p.H947Y	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	947					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.H947Y(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGAGCAGCGTGAACTTCATCA	0.493																																							uc003zrg.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(2839-2841)CAC>TAC		TBP-associated factor RNA polymerase 1-like							169.0	154.0	159.0					9																	32632739		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32632739G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2839C>T	9.37:g.32632739G>A	ENSP00000418379:p.His947Tyr					uc003zrh.1_5'Flank	p.H947Y	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2929	-			947					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.2839C>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.525072	0.27299	.	.	ENSG00000122728	ENST00000242310	T	0.13901	2.55	1.04	1.04	0.20106	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.162835	0.56097	D	0.000030	T	0.06508	0.0167	N	0.08118	0	0.22226	N	0.999271	B	0.17268	0.021	B	0.20184	0.028	T	0.31530	-0.9940	10	0.72032	D	0.01	.	7.4859	0.27432	0.0:0.0:1.0:0.0	.	947	Q8IZX4	TAF1L_HUMAN	Y	947	ENSP00000418379:H947Y	ENSP00000418379:H947Y	H	-	1	0	TAF1L	32622739	1.000000	0.71417	0.975000	0.42487	0.812000	0.45895	6.195000	0.72088	0.507000	0.28148	0.195000	0.17529	CAC		0.493	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			33	168	0	0	0	0.012213	0	33	168				
TAF1L	138474	broad.mit.edu	37	9	32633201	32633201	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:32633201G>T	ENST00000242310.4	-	1	2466	c.2377C>A	c.(2377-2379)Cgg>Agg	p.R793R	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	793					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.R793R(2)|p.R793W(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ACTAATTCCCGAATATAGTAA	0.438																																							uc003zrg.1		NA																	3	Substitution - coding silent(2)|Substitution - Missense(1)		lung(2)|endometrium(1)	lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(2377-2379)CGG>AGG		TBP-associated factor RNA polymerase 1-like							181.0	182.0	181.0					9																	32633201		2203	4300	6503	SO:0001819	synonymous_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633201G>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2377C>A	9.37:g.32633201G>T						uc003zrh.1_5'Flank	p.R793R	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2467	-			793					Q0VG57	Silent	SNP	ENST00000242310.4	37	c.2377C>A	CCDS35003.1																																																																																				0.438	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			23	154	1	0	1.10513e-12	0.002299	1.56322e-12	23	154				
ZCCHC7	84186	broad.mit.edu	37	9	37126597	37126597	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:37126597G>T	ENST00000336755.5	+	2	374	c.268G>T	c.(268-270)Gag>Tag	p.E90*	ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Intron|ZCCHC7_ENST00000322831.6_Nonsense_Mutation_p.E89*	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	90						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E90*(2)		central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		AGATGGGTCAGAGGTCATCAC	0.398																																							uc003zzq.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(268-270)GAG>TAG		zinc finger, CCHC domain containing 7							159.0	156.0	157.0					9																	37126597		2203	4300	6503	SO:0001587	stop_gained	84186						nucleic acid binding|zinc ion binding	g.chr9:37126597G>T	AK026264	CCDS6608.2	9p13.1	2008-05-02			ENSG00000147905	ENSG00000147905		"""Zinc fingers, CCHC domain containing"""	26209	protein-coding gene	gene with protein product							Standard	NM_032226		Approved	FLJ22611, AIR1	uc003zzq.3	Q8N3Z6	OTTHUMG00000019915	ENST00000336755.5:c.268G>T	9.37:g.37126597G>T	ENSP00000337839:p.Glu90*					ZCCHC7_uc011lqh.1_Intron|ZCCHC7_uc011lqi.1_Nonsense_Mutation_p.E89*|ZCCHC7_uc010mlt.2_Nonsense_Mutation_p.E89*|ZCCHC7_uc003zzs.1_Nonsense_Mutation_p.E89*	p.E90*	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN		GBM - Glioblastoma multiforme(29;0.0137)	2	441	+			90					B2RCI4|D3DRQ0|Q5T0Q8|Q5T0Q9|Q5T0R0|Q8N2M1|Q8N4J2|Q8TBK8|Q9H648|Q9P0F0	Nonsense_Mutation	SNP	ENST00000336755.5	37	c.268G>T	CCDS6608.2	.	.	.	.	.	.	.	.	.	.	G	37	6.596786	0.97692	.	.	ENSG00000147905	ENST00000336755;ENST00000322831	.	.	.	5.64	5.64	0.86602	.	0.400235	0.26200	N	0.025748	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	15.5306	0.75956	0.0:0.1376:0.8624:0.0	.	.	.	.	X	90;89	.	ENSP00000316365:E89X	E	+	1	0	ZCCHC7	37116597	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	4.890000	0.63178	2.810000	0.96702	0.637000	0.83480	GAG		0.398	ZCCHC7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052453.2	NM_032226		30	228	1	0	3.90053e-15	0.012213	5.77151e-15	30	228				
RORB	6096	broad.mit.edu	37	9	77257566	77257566	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:77257566G>T	ENST00000396204.2	+	4	505	c.505G>T	c.(505-507)Gtc>Ttc	p.V169F	RORB_ENST00000376896.3_Missense_Mutation_p.V158F			Q92753	RORB_HUMAN	RAR-related orphan receptor B	169	Hinge. {ECO:0000255}.				amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.V158F(2)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	TTATTACAACGTCGATTCCGG	0.512																																							uc004aji.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|skin(1)	4						c.(505-507)GTC>TTC		RAR-related orphan receptor B							104.0	87.0	93.0					9																	77257566		2203	4300	6503	SO:0001583	missense	6096				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:77257566G>T	Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"""Nuclear hormone receptors"""	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.505G>T	9.37:g.77257566G>T	ENSP00000379507:p.Val169Phe					RORB_uc004ajh.2_Missense_Mutation_p.V158F	p.V169F	NM_006914	NP_008845	Q92753	RORB_HUMAN			4	554	+			169			Hinge (Potential).		Q8WX73	Missense_Mutation	SNP	ENST00000396204.2	37	c.505G>T		.	.	.	.	.	.	.	.	.	.	G	3.490	-0.104101	0.06967	.	.	ENSG00000198963	ENST00000376896;ENST00000396204	D;D	0.93953	-3.32;-3.32	5.95	4.07	0.47477	.	0.444968	0.27866	N	0.017536	T	0.80793	0.4691	N	0.08118	0	0.46298	D	0.998976	P;B	0.36010	0.532;0.054	B;B	0.26614	0.071;0.014	T	0.76517	-0.2930	10	0.10636	T	0.68	.	10.4198	0.44344	0.07:0.0:0.795:0.135	.	169;158	Q92753;Q58EY0	RORB_HUMAN;.	F	158;169	ENSP00000366093:V158F;ENSP00000379507:V169F	ENSP00000366093:V158F	V	+	1	0	RORB	76447386	1.000000	0.71417	0.141000	0.22245	0.559000	0.35586	3.583000	0.53928	0.800000	0.34041	0.655000	0.94253	GTC		0.512	RORB-201	KNOWN	basic	protein_coding	protein_coding				22	64	1	0	1.40151e-16	0.010504	2.09651e-16	22	64				
SLC28A3	64078	broad.mit.edu	37	9	86905119	86905119	+	Missense_Mutation	SNP	C	C	A	rs11568388		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:86905119C>A	ENST00000376238.4	-	11	1148	c.1099G>T	c.(1099-1101)Ggg>Tgg	p.G367W	RP11-380F14.2_ENST00000419815.1_RNA|SLC28A3_ENST00000537648.1_Missense_Mutation_p.G298W	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	367			G -> R (reduced transport of inosine and thymidine). {ECO:0000269|PubMed:15738947}.		pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)	p.G367W(2)		endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	GTAGAGAACCCGGCGGTCATG	0.458																																					Ovarian(106;425 1539 34835 42413 43572)	Ovarian(106;425 1539 34835 42413 43572)	uc010mpz.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						c.(1099-1101)GGG>TGG		concentrative Na+-nucleoside cotransporter							114.0	108.0	110.0					9																	86905119		2203	4300	6503	SO:0001583	missense	64078				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86905119C>A	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.1099G>T	9.37:g.86905119C>A	ENSP00000365413:p.Gly367Trp					SLC28A3_uc011lsy.1_Missense_Mutation_p.G298W|SLC28A3_uc004anu.1_Missense_Mutation_p.G367W	p.G367W	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN			11	1224	-			367		G -> R (reduced transport of inosine and thymidine).	Helical; (Potential).		A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	ENST00000376238.4	37	c.1099G>T	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981408	0.74474	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	T;T	0.32272	1.46;1.46	5.82	4.93	0.64822	Nucleoside recognition (1);	0.000000	0.85682	D	0.000000	T	0.70684	0.3252	H	0.97874	4.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82924	-0.0216	10	0.87932	D	0	-17.6672	14.8721	0.70465	0.0:0.9313:0.0:0.0687	.	367	Q9HAS3	S28A3_HUMAN	W	367;298	ENSP00000365413:G367W;ENSP00000446438:G298W	ENSP00000365413:G367W	G	-	1	0	SLC28A3	86094939	1.000000	0.71417	0.834000	0.33040	0.538000	0.34931	7.686000	0.84128	1.476000	0.48215	0.563000	0.77884	GGG		0.458	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127		15	70	1	0	2.31682e-05	0.003163	2.60822e-05	15	70				
SPATA31C1	441452	broad.mit.edu	37	9	90536968	90536968	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:90536968C>A	ENST00000602681.1	+	0	1927							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCTTGGAGAGCCACCAATGGC	0.542																																							uc010mqi.2		NA																	0					0						c.(2146-2148)CCA>ACA		family with sequence similarity 75, member C1							21.0	19.0	19.0					9																	90536968		692	1591	2283			441452							g.chr9:90536968C>A	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90536968C>A						FAM75C1_uc004apq.3_Missense_Mutation_p.P699T	p.P716T	NM_001145124	NP_001138596					4	2175	+									Missense_Mutation	SNP	ENST00000602681.1	37	c.2146C>A																																																																																					0.542	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		15	101	1	0	2.32078e-09	0.003163	2.96063e-09	15	101				
SPATA31C2	645961	broad.mit.edu	37	9	90745717	90745717	+	IGR	SNP	C	C	A	rs543224341		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:90745717C>A								U6 (132467 upstream) : U3 (243466 downstream)																							GGATCCCTCGCGGGGCCCTCT	0.567																																							uc011lti.1		NA																	0					NA						c.(2233-2235)CCG>CCT		SubName: Full=cDNA FLJ59639;							9.0	11.0	10.0					9																	90745717		691	1590	2281	SO:0001628	intergenic_variant	0							g.chr9:90745717C>A																													9.37:g.90745717C>A						uc004apx.1_5'Flank	p.P745P							4	2264	-									Silent	SNP		37	c.2235G>T																																																																																				0	0.567									10	64	1	0	5.50884e-06	0.001368	6.30571e-06	10	64				
SPATA31C2	645961	broad.mit.edu	37	9	90746009	90746009	+	IGR	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:90746009G>T								U6 (132759 upstream) : U3 (243174 downstream)																							CACAATATGGGCTCCCAGCAC	0.532																																							uc011lti.1		NA																	0					NA						c.(1942-1944)GCC>GAC		SubName: Full=cDNA FLJ59639;							27.0	24.0	25.0					9																	90746009		692	1591	2283	SO:0001628	intergenic_variant	0							g.chr9:90746009G>T																													9.37:g.90746009G>T							p.A648D							4	1972	-									Missense_Mutation	SNP		37	c.1943C>A																																																																																				0	0.532									38	207	1	0	5.73435e-26	0.00361	9.78423e-26	38	207				
GRIN3A	116443	broad.mit.edu	37	9	104432903	104432903	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:104432903G>T	ENST00000361820.3	-	3	2391	c.1791C>A	c.(1789-1791)ctC>ctA	p.L597L		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	597					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.L597L(2)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CTACAATATAGAGGTCGAAGT	0.453																																							uc004bbp.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(1789-1791)CTC>CTA		glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						98.0	83.0	88.0					9																	104432903		2203	4300	6503	SO:0001819	synonymous_variant	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104432903G>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1791C>A	9.37:g.104432903G>T						GRIN3A_uc004bbq.1_Silent_p.L597L	p.L597L	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			3	2392	-		Acute lymphoblastic leukemia(62;0.0568)	597			Extracellular (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.1791C>A	CCDS6758.1																																																																																				0.453	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			14	85	1	0	9.05144e-12	0.001855	1.25116e-11	14	85				
OR13C3	138803	broad.mit.edu	37	9	107298376	107298376	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:107298376G>C	ENST00000374781.2	-	1	761	c.719C>G	c.(718-720)cCa>cGa	p.P240R		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P240R(2)		endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						GACCATCAGTGGAAGAACCAG	0.428																																					GBM(86;1248 1274 14222 15028 46219)	GBM(86;1248 1274 14222 15028 46219)	uc004bcb.1		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(718-720)CCA>CGA		olfactory receptor, family 13, subfamily C,							89.0	90.0	90.0					9																	107298376		2203	4300	6503	SO:0001583	missense	138803				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107298376G>C		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.719C>G	9.37:g.107298376G>C	ENSP00000363913:p.Pro240Arg						p.P240R	NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN			1	719	-			240			Helical; Name=5; (Potential).		Q5VVG1|Q6IF52	Missense_Mutation	SNP	ENST00000374781.2	37	c.719C>G	CCDS35089.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.181304	0.38511	.	.	ENSG00000204246	ENST00000374781	T	0.57273	0.41	4.18	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42294	U	0.000722	T	0.80193	0.4578	H	0.98629	4.285	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.74222	-0.3735	10	0.87932	D	0	.	8.0468	0.30553	0.1091:0.0:0.8909:0.0	.	240	Q8NGS6	O13C3_HUMAN	R	240	ENSP00000363913:P240R	ENSP00000363913:P240R	P	-	2	0	OR13C3	106338197	0.969000	0.33509	0.965000	0.40720	0.904000	0.53231	1.813000	0.38962	2.319000	0.78375	0.591000	0.81541	CCA		0.428	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053477.2			17	102	0	0	0	0.00499	0	17	102				
SLC44A1	23446	broad.mit.edu	37	9	108127811	108127811	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:108127811G>T	ENST00000374720.3	+	11	1548	c.1301G>T	c.(1300-1302)cGc>cTc	p.R434L	SLC44A1_ENST00000374723.1_Missense_Mutation_p.R434L|SLC44A1_ENST00000374724.1_Missense_Mutation_p.R434L|SLC44A1_ENST00000343170.7_Missense_Mutation_p.R226L	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	434					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)	p.R434L(2)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TCAGTAAATCGCCTTATTCGT	0.363																																							uc004bcn.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(3)|ovary(1)	4						c.(1300-1302)CGC>CTC		CDW92 antigen	Choline(DB00122)						116.0	110.0	112.0					9																	108127811		2203	4300	6503	SO:0001583	missense	23446					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	g.chr9:108127811G>T	AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.1301G>T	9.37:g.108127811G>T	ENSP00000363852:p.Arg434Leu					SLC44A1_uc010mtk.1_Missense_Mutation_p.R434L|SLC44A1_uc004bco.1_Missense_Mutation_p.R226L	p.R434L	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN			11	1522	+			434			Mitochondrial intermembrane (Potential).		A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	ENST00000374720.3	37	c.1301G>T	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272748	0.80580	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724;ENST00000343170	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.63698	0.2533	M	0.86502	2.82	0.80722	D	1	P;P;D	0.89917	0.612;0.612;1.0	P;P;D	0.91635	0.493;0.493;0.999	T	0.64508	-0.6391	10	0.44086	T	0.13	-13.4488	20.1064	0.97896	0.0:0.0:1.0:0.0	.	434;434;434	Q8WWI5-3;Q8WWI5-2;Q8WWI5	.;.;CTL1_HUMAN	L	434;434;434;226	ENSP00000363855:R434L;ENSP00000363852:R434L;ENSP00000363856:R434L;ENSP00000341856:R226L	ENSP00000341856:R226L	R	+	2	0	SLC44A1	107167632	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.753000	0.74904	2.745000	0.94114	0.650000	0.86243	CGC		0.363	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546		16	89	1	0	6.31663e-08	0.003163	7.75029e-08	16	89				
TLR4	7099	broad.mit.edu	37	9	120476354	120476354	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:120476354C>T	ENST00000355622.6	+	3	2049	c.1948C>T	c.(1948-1950)Ctg>Ttg	p.L650L	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.L610L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	650					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 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)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.L650L(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TGTAGCAGTTCTGGTCTATAA	0.428																																							uc004bjz.2		NA																	2	Substitution - coding silent(2)		lung(2)	lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(1948-1950)CTG>TTG		toll-like receptor 4 precursor							174.0	149.0	158.0					9																	120476354		2203	4300	6503	SO:0001819	synonymous_variant	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120476354C>T	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1948C>T	9.37:g.120476354C>T						TLR4_uc004bka.2_Silent_p.L610L|TLR4_uc004bkb.2_Silent_p.L450L	p.L650L	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	2239	+			650			Helical; (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	c.1948C>T	CCDS6818.1																																																																																				0.428	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		20	37	0	0	0	0.007413	0	20	37				
GSN	2934	broad.mit.edu	37	9	124088797	124088797	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:124088797T>C	ENST00000373818.4	+	12	1646	c.1577T>C	c.(1576-1578)gTg>gCg	p.V526A	GSN_ENST00000545652.1_Missense_Mutation_p.V483A|GSN_ENST00000436847.1_Missense_Mutation_p.V486A|GSN_ENST00000373806.1_5'Flank|GSN_ENST00000341272.2_Missense_Mutation_p.V475A|GSN_ENST00000394353.2_Missense_Mutation_p.V486A|GSN_ENST00000373808.2_Missense_Mutation_p.V475A|GSN_ENST00000412819.1_Missense_Mutation_p.V475A|GSN_ENST00000373823.3_Missense_Mutation_p.V475A|GSN_ENST00000449733.1_Missense_Mutation_p.V475A|GSN_ENST00000373807.1_Missense_Mutation_p.V257A	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	526	Actin-binding, Ca-sensitive. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)	p.V526A(2)|p.V475A(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						CAGAGCCGTGTGGTCCAAGGC	0.637																																							uc004blf.1		NA																	4	Substitution - Missense(4)		lung(4)	breast(2)|ovary(1)	3						c.(1576-1578)GTG>GCG		gelsolin isoform a precursor							42.0	40.0	41.0					9																	124088797		2203	4300	6503	SO:0001583	missense	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124088797T>C	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.1577T>C	9.37:g.124088797T>C	ENSP00000362924:p.Val526Ala					GSN_uc004bld.1_Missense_Mutation_p.V475A|GSN_uc010mvq.1_Missense_Mutation_p.V486A|GSN_uc010mvr.1_Missense_Mutation_p.V486A|GSN_uc010mvu.1_Missense_Mutation_p.V475A|GSN_uc010mvt.1_Missense_Mutation_p.V475A|GSN_uc010mvs.1_Missense_Mutation_p.V475A|GSN_uc004ble.1_Missense_Mutation_p.V475A|GSN_uc010mvv.1_Missense_Mutation_p.V475A|GSN_uc011lyh.1_Missense_Mutation_p.V492A|GSN_uc011lyi.1_Missense_Mutation_p.V475A|GSN_uc011lyj.1_Missense_Mutation_p.V499A|GSN_uc004blg.1_Missense_Mutation_p.V257A	p.V526A	NM_000177	NP_000168	P06396	GELS_HUMAN			12	1638	+			526			Actin-binding, Ca-sensitive (Potential).		A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Missense_Mutation	SNP	ENST00000373818.4	37	c.1577T>C	CCDS6828.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.437622	0.83885	.	.	ENSG00000148180	ENST00000373823;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818;ENST00000373807	T;T;T;T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36	4.89	4.89	0.63831	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.77350	0.4117	M	0.91090	3.175	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.961;1.0;0.997;0.999	T	0.82766	-0.0295	10	0.66056	D	0.02	-23.503	13.728	0.62769	0.0:0.0:0.0:1.0	.	499;483;486;257;526	B7Z9A0;F5H1A8;B7Z373;Q5T0H9;P06396	.;.;.;.;GELS_HUMAN	A	475;486;486;475;475;475;475;459;449;483;526;257	ENSP00000362929:V475A;ENSP00000411293:V486A;ENSP00000377882:V486A;ENSP00000409358:V475A;ENSP00000416586:V475A;ENSP00000340888:V475A;ENSP00000362914:V475A;ENSP00000445823:V483A;ENSP00000362924:V526A;ENSP00000362913:V257A	ENSP00000340888:V475A	V	+	2	0	GSN	123128618	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.637000	0.83313	1.839000	0.53478	0.533000	0.62120	GTG		0.637	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177		8	62	0	0	0	0.004482	0	8	62				
ENG	2022	broad.mit.edu	37	9	130588868	130588868	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:130588868C>A	ENST00000373203.4	-	4	844	c.444G>T	c.(442-444)gaG>gaT	p.E148D	ENG_ENST00000344849.3_Missense_Mutation_p.E148D|ENG_ENST00000480266.1_5'Flank	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	148	Required for interaction with EGL.				artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)	p.E148D(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						CAGCTGCCCACTCAAGGATCT	0.612									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																														uc004bsj.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(442-444)GAG>GAT		endoglin isoform 1 precursor							63.0	61.0	62.0					9																	130588868		2203	4300	6503	SO:0001583	missense	2022	Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	g.chr9:130588868C>A	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"""CD molecules"""	3349	protein-coding gene	gene with protein product		131195	"""Osler-Rendu-Weber syndrome 1"""	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.444G>T	9.37:g.130588868C>A	ENSP00000362299:p.Glu148Asp					ENG_uc011mam.1_5'UTR|ENG_uc004bsk.3_Missense_Mutation_p.E148D	p.E148D	NM_001114753	NP_001108225	P17813	EGLN_HUMAN			4	857	-			148			Extracellular (Potential).		Q14248|Q14926|Q5T9C0	Missense_Mutation	SNP	ENST00000373203.4	37	c.444G>T	CCDS48029.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.702321	0.00719	.	.	ENSG00000106991	ENST00000373203;ENST00000344849;ENST00000545345	T;T	0.42513	0.97;1.55	5.22	0.87	0.19102	.	0.873572	0.10026	N	0.725341	T	0.12732	0.0309	N	0.00823	-1.155	0.58432	D	0.999991	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40308	-0.9570	10	0.02654	T	1	-2.2683	10.6881	0.45854	0.0:0.5189:0.3474:0.1337	.	148;148	Q5T9B9;P17813	.;EGLN_HUMAN	D	148	ENSP00000362299:E148D;ENSP00000341917:E148D	ENSP00000341917:E148D	E	-	3	2	ENG	129628689	0.202000	0.23423	0.347000	0.25668	0.108000	0.19459	0.247000	0.18179	0.277000	0.22141	-0.270000	0.10280	GAG		0.612	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054313.1			15	98	1	0	1.45105e-14	0.006122	2.11838e-14	15	98				
ASS1	445	broad.mit.edu	37	9	133364724	133364724	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:133364724C>G	ENST00000372394.1	+	13	1324	c.843C>G	c.(841-843)atC>atG	p.I281M	ASS1_ENST00000493984.2_3'UTR|ASS1_ENST00000372393.3_Missense_Mutation_p.I281M|ASS1_ENST00000352480.5_Missense_Mutation_p.I281M			P00966	ASSY_HUMAN	argininosuccinate synthase 1	281					acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)	p.I281M(2)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	GGCTAGGTATCTACGAGACCC	0.448																																							uc004bzm.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(841-843)ATC>ATG		argininosuccinate synthetase 1	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)						82.0	90.0	87.0					9																	133364724		2203	4300	6503	SO:0001583	missense	445				arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding	g.chr9:133364724C>G	X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"""argininosuccinate synthetase"""	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.843C>G	9.37:g.133364724C>G	ENSP00000361471:p.Ile281Met					ASS1_uc004bzn.2_Missense_Mutation_p.I281M|ASS1_uc010mza.2_Missense_Mutation_p.I357M|ASS1_uc004bzo.2_Missense_Mutation_p.I262M|ASS1_uc010mzb.2_Missense_Mutation_p.I319M|ASS1_uc004bzp.2_Missense_Mutation_p.I281M|ASS1_uc010mzc.2_Missense_Mutation_p.I281M	p.I281M	NM_000050	NP_000041	P00966	ASSY_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000514)	13	1199	+			281					Q6LDL2|Q86UZ0|Q96GT4	Missense_Mutation	SNP	ENST00000372394.1	37	c.843C>G	CCDS6933.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.245149	0.59103	.	.	ENSG00000130707	ENST00000334909;ENST00000352480;ENST00000372394;ENST00000372393;ENST00000372386	D;D;D;D	0.99201	-5.55;-5.55;-5.55;-5.18	4.5	4.5	0.54988	Argininosuccinate synthetase, catalytic/multimerisation domain body (1);	0.000000	0.85682	U	0.000000	D	0.99272	0.9746	M	0.85859	2.78	0.58432	D	0.999998	D;D;D;D;D	0.89917	0.996;1.0;1.0;0.996;0.996	D;D;D;D;D	0.79784	0.986;0.993;0.993;0.979;0.979	D	0.99041	1.0824	10	0.54805	T	0.06	.	16.5684	0.84604	0.0:1.0:0.0:0.0	.	281;164;164;281;281	A8KAP9;B4E395;E9PDT0;Q5T6L4;P00966	.;.;.;.;ASSY_HUMAN	M	281;281;281;281;38	ENSP00000253004:I281M;ENSP00000361471:I281M;ENSP00000361469:I281M;ENSP00000361461:I38M	ENSP00000361470:I281M	I	+	3	3	ASS1	132354545	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.465000	0.60141	2.220000	0.72140	0.462000	0.41574	ATC		0.448	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054652.1	NM_000050		42	87	0	0	0	0.003214	0	42	87				
LAMC3	10319	broad.mit.edu	37	9	133932444	133932444	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:133932444G>T	ENST00000361069.4	+	12	2201	c.2068G>T	c.(2068-2070)Gga>Tga	p.G690*	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	690	Laminin EGF-like 5; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)	p.G690*(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CTGTGCTCCGGGATACAAGAG	0.617																																							uc004caa.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(2068-2070)GGA>TGA		laminin, gamma 3 precursor							89.0	91.0	91.0					9																	133932444		2203	4300	6503	SO:0001587	stop_gained	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133932444G>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.2068G>T	9.37:g.133932444G>T	ENSP00000354360:p.Gly690*						p.G690*	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	12	2166	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	690			Laminin EGF-like 5; second part.		B1APX9|B1APY0|Q59H72	Nonsense_Mutation	SNP	ENST00000361069.4	37	c.2068G>T	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	42	9.275261	0.99122	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	.	.	.	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.1425	0.86757	0.0:0.0:1.0:0.0	.	.	.	.	X	690	.	ENSP00000347156:G690X	G	+	1	0	LAMC3	132922265	1.000000	0.71417	0.992000	0.48379	0.979000	0.70002	9.360000	0.97119	2.278000	0.76064	0.644000	0.83932	GGA		0.617	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		68	158	1	0	2.32817e-41	0.00361	4.50773e-41	68	158				
SEC16A	9919	broad.mit.edu	37	9	139371251	139371251	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:139371251C>A	ENST00000371706.3	-	1	316	c.283G>T	c.(283-285)Gca>Tca	p.A95S	SEC16A_ENST00000431893.2_Missense_Mutation_p.A95S|SEC16A_ENST00000290037.6_Missense_Mutation_p.A95S|SEC16A_ENST00000313050.7_Missense_Mutation_p.A273S			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	95					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.A273S(4)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGCAAGGCTGCTGGGGGAGCC	0.587																																							uc004chx.2		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(817-819)GCA>TCA		SEC16 homolog A							28.0	32.0	31.0					9																	139371251		1973	4159	6132	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139371251C>A	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.283G>T	9.37:g.139371251C>A	ENSP00000360771:p.Ala95Ser					SEC16A_uc004chv.3_5'Flank|SEC16A_uc004chw.2_Missense_Mutation_p.A273S|SEC16A_uc010nbn.2_Missense_Mutation_p.A273S|SEC16A_uc010nbo.1_Missense_Mutation_p.A273S	p.A273S	NM_014866	NP_055681	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	3	1126	-		Myeloproliferative disorder(178;0.0511)	95					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37	c.817G>T		.	.	.	.	.	.	.	.	.	.	C	11.81	1.749740	0.30955	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893	T;T;T;T	0.26373	1.74;1.76;1.76;1.76	5.19	5.19	0.71726	.	0.768215	0.11449	N	0.562979	T	0.20455	0.0492	L	0.36672	1.1	0.31348	N	0.68288	B;B;B	0.32467	0.255;0.372;0.372	B;B;B	0.30855	0.057;0.121;0.121	T	0.06844	-1.0804	10	0.18710	T	0.47	-4.7728	11.5501	0.50716	0.0:0.9184:0.0:0.0816	.	273;95;95	F1T0I1;O15027-5;O15027-4	.;.;.	S	273;95;95;95	ENSP00000325827:A273S;ENSP00000360771:A95S;ENSP00000290037:A95S;ENSP00000387583:A95S	ENSP00000290037:A95S	A	-	1	0	SEC16A	138491072	0.820000	0.29190	0.009000	0.14445	0.032000	0.12392	2.761000	0.47589	2.578000	0.87016	0.655000	0.94253	GCA		0.587	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		9	26	1	0	2.17888e-05	0.006214	2.45799e-05	9	26				
IL3RA	3563	broad.mit.edu	37	X	1460672	1460672	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:1460672G>T	ENST00000331035.4	+	2	363	c.14G>T	c.(13-15)tGg>tTg	p.W5L	IL3RA_ENST00000381469.2_Missense_Mutation_p.W5L	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	5					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)	p.W5L(2)		lung(1)|skin(2)	3		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)			Sargramostim(DB00020)	GTCCTCCTTTGGCTCACGCTG	0.607																																							uc004cps.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|lung(1)	3						c.(13-15)TGG>TTG		interleukin 3 receptor, alpha precursor	Sargramostim(DB00020)						218.0	177.0	191.0					X																	1460672		2203	4296	6499	SO:0001583	missense	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1460672G>T	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.14G>T	X.37:g.1460672G>T	ENSP00000327890:p.Trp5Leu					IL3RA_uc011mhd.1_Missense_Mutation_p.W5L	p.W5L	NM_002183	NP_002174	P26951	IL3RA_HUMAN			2	363	+		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)	5					A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Missense_Mutation	SNP	ENST00000331035.4	37	c.14G>T	CCDS14113.1	.	.	.	.	.	.	.	.	.	.	.	1.117	-0.656353	0.03480	.	.	ENSG00000185291	ENST00000331035;ENST00000432757;ENST00000381469	T;T;D	0.95821	1.52;0.03;-3.82	0.57	0.57	0.17347	.	.	.	.	.	D	0.93311	0.7868	N	0.24115	0.695	0.09310	N	1	P;P	0.51449	0.945;0.909	P;P	0.56648	0.803;0.641	D	0.86152	0.1588	8	0.59425	D	0.04	-2.7931	.	.	.	.	5;5	P26951-2;P26951	.;IL3RA_HUMAN	L	5	ENSP00000327890:W5L;ENSP00000414867:W5L;ENSP00000370878:W5L	ENSP00000327890:W5L	W	+	2	0	IL3RA	1420672	0.082000	0.21442	0.012000	0.15200	0.027000	0.11550	1.324000	0.33712	0.558000	0.29135	0.172000	0.16884	TGG		0.607	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			28	101	1	0	5.61819e-17	0.005443	8.49731e-17	28	101				
ASMTL	8623	broad.mit.edu	37	X	1561078	1561078	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:1561078C>A	ENST00000381317.3	-	2	258		c.e2+1		ASMTL_ENST00000416733.2_Splice_Site|ASMTL_ENST00000381333.4_Splice_Site|ASMTL_ENST00000534940.1_Splice_Site	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like							cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)	p.?(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		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)				GGGCCCCTTGCCTGGTACAGC	0.527																																							uc004cpx.1		NA																	2	Unknown(2)		lung(2)		0						c.e2+1		acetylserotonin O-methyltransferase-like							119.0	127.0	125.0					X																	1561078		1871	4092	5963	SO:0001630	splice_region_variant	8623				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity	g.chrX:1561078C>A	Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.225+1G>T	X.37:g.1561078C>A						ASMTL_uc011mhe.1_Splice_Site_p.R21_splice|ASMTL_uc004cpy.1_Splice_Site_p.Q75_splice|ASMTL_uc011mhf.1_Splice_Site_p.Q17_splice	p.Q75_splice	NM_004192	NP_004183	O95671	ASML_HUMAN			2	336	-		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)						B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Splice_Site	SNP	ENST00000381317.3	37	c.225_splice	CCDS43917.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.655718	0.29425	.	.	ENSG00000169093	ENST00000416733;ENST00000534940;ENST00000381333;ENST00000381317	.	.	.	2.24	2.24	0.28232	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5619	0.56286	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ASMTL	1521078	1.000000	0.71417	0.026000	0.17262	0.181000	0.23173	4.352000	0.59404	0.946000	0.37632	0.453000	0.30009	.		0.527	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192	Intron	47	157	1	0	5.57489e-27	0.00361	9.63257e-27	47	157				
ARSF	416	broad.mit.edu	37	X	2990067	2990067	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:2990067G>T	ENST00000381127.1	+	3	233	c.12G>T	c.(10-12)agG>agT	p.R4S	ARSF_ENST00000359361.2_Splice_Site_p.R4S|ARSF_ENST00000537104.1_Splice_Site_p.R4S	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	4					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)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.R4S(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		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)				TGCTTTCCAGGAGACCCTTGG	0.493																																							uc004cre.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(10-12)AGG>AGT		arylsulfatase F precursor							160.0	122.0	135.0					X																	2990067		2203	4300	6503	SO:0001630	splice_region_variant	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:2990067G>T	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.12-1G>T	X.37:g.2990067G>T						ARSF_uc004crf.1_Missense_Mutation_p.R4S	p.R4S	NM_004042	NP_004033	P54793	ARSF_HUMAN			3	233	+		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)	4					Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	c.12G>T	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	g	9.421	1.083124	0.20309	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.95656	-3.77;-3.77;-3.77	2.46	2.46	0.29980	.	0.088234	0.42548	U	0.000688	D	0.90208	0.6939	L	0.35854	1.095	0.27736	N	0.944632	B	0.28512	0.214	B	0.16722	0.016	T	0.81435	-0.0934	9	.	.	.	.	11.5133	0.50507	0.0:0.0:1.0:0.0	.	4	P54793	ARSF_HUMAN	S	4	ENSP00000370519:R4S;ENSP00000445594:R4S;ENSP00000352319:R4S	.	R	+	3	2	ARSF	3000067	0.932000	0.31603	0.011000	0.14972	0.006000	0.05464	1.664000	0.37439	0.980000	0.38523	0.415000	0.27848	AGG		0.493	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1		Missense_Mutation	21	41	1	0	7.45023e-12	0.010504	1.03244e-11	21	41				
ARHGAP6	395	broad.mit.edu	37	X	11196361	11196361	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:11196361C>T	ENST00000337414.4	-	8	2360	c.1488G>A	c.(1486-1488)gaG>gaA	p.E496E	ARHGAP6_ENST00000380718.1_Silent_p.E496E|ARHGAP6_ENST00000303025.6_Silent_p.E293E|ARHGAP6_ENST00000380736.1_Silent_p.E293E|ARHGAP6_ENST00000413512.3_Silent_p.E305E|ARHGAP6_ENST00000534860.1_Silent_p.E321E|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380732.3_Silent_p.E528E	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	496	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)	p.E496E(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GTTCCTCCGGCTCCAACACTA	0.522																																							uc004cup.1		NA																	2	Substitution - coding silent(2)		lung(2)	urinary_tract(1)|lung(1)	2						c.(1486-1488)GAG>GAA		Rho GTPase activating protein 6 isoform 1							90.0	61.0	71.0					X																	11196361		2203	4300	6503	SO:0001819	synonymous_variant	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11196361C>T	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1488G>A	X.37:g.11196361C>T						ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Silent_p.E496E|ARHGAP6_uc004cum.1_Silent_p.E293E|ARHGAP6_uc004cun.1_Silent_p.E316E|ARHGAP6_uc010neb.1_Silent_p.E318E|ARHGAP6_uc011mif.1_Silent_p.E293E	p.E496E	NM_013427	NP_038286	O43182	RHG06_HUMAN			8	2361	-			496			Rho-GAP.		B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Silent	SNP	ENST00000337414.4	37	c.1488G>A	CCDS14140.1																																																																																				0.522	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		5	8	0	0	0	0.001168	0	5	8				
ACE2	59272	broad.mit.edu	37	X	15607507	15607507	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:15607507C>G	ENST00000252519.3	-	5	758	c.656G>C	c.(655-657)cGc>cCc	p.R219P	ACE2_ENST00000427411.1_Missense_Mutation_p.R219P			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	219					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.R219P(2)		endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	CAACTGGCCGCGGCTGTAGTC	0.423																																							uc004cxa.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(655-657)CGC>CCC		angiotensin I converting enzyme 2 precursor	Moexipril(DB00691)						226.0	202.0	210.0					X																	15607507		2203	4300	6503	SO:0001583	missense	59272				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	g.chrX:15607507C>G	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.656G>C	X.37:g.15607507C>G	ENSP00000252519:p.Arg219Pro					ACE2_uc004cxb.2_Missense_Mutation_p.R219P	p.R219P	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN			5	824	-	Hepatocellular(33;0.183)		219	R->D: No effect on interaction with SARS- CoV spike glycoprotein.		Extracellular (Potential).		C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	c.656G>C	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.772565	0.49680	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.33216	1.42;1.42	5.74	4.87	0.63330	.	0.115420	0.64402	D	0.000012	T	0.56992	0.2023	M	0.82517	2.595	0.34346	D	0.689321	D	0.61080	0.989	D	0.68621	0.959	T	0.72228	-0.4354	10	0.66056	D	0.02	-1.3369	13.9779	0.64284	0.0:0.9231:0.0:0.0769	.	219	Q9BYF1	ACE2_HUMAN	P	219	ENSP00000252519:R219P;ENSP00000389326:R219P	ENSP00000252519:R219P	R	-	2	0	ACE2	15517428	1.000000	0.71417	0.055000	0.19348	0.003000	0.03518	4.831000	0.62752	2.432000	0.82394	0.534000	0.68092	CGC		0.423	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			47	183	0	0	0	0.00361	0	47	183				
OTUD6A	139562	broad.mit.edu	37	X	69282458	69282458	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:69282458C>G	ENST00000338352.2	+	1	118	c.84C>G	c.(82-84)agC>agG	p.S28R		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU deubiquitinase 6A	28					protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)		ubiquitin-specific protease activity (GO:0004843)	p.S28R(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						AGATCCGGAGCTTAAAAAACT	0.582																																							uc004dxu.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)|skin(1)	2						c.(82-84)AGC>AGG		OTU domain containing 6A							24.0	23.0	24.0					X																	69282458		2203	4299	6502	SO:0001583	missense	139562							g.chrX:69282458C>G	AK098697	CCDS14395.1	Xq13.1	2014-02-24	2014-02-24			ENSG00000189401		"""OTU domain containing"""	32312	protein-coding gene	gene with protein product		300714	"""OTU domain containing 6A"""			23827681	Standard	NM_207320		Approved	FLJ25831, HSHIN6, DUBA2	uc004dxu.1	Q7L8S5		ENST00000338352.2:c.84C>G	X.37:g.69282458C>G	ENSP00000339389:p.Ser28Arg						p.S28R	NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN			1	118	+			28					B2RPB7	Missense_Mutation	SNP	ENST00000338352.2	37	c.84C>G	CCDS14395.1	.	.	.	.	.	.	.	.	.	.	c	8.601	0.886822	0.17540	.	.	ENSG00000189401	ENST00000338352	T	0.46063	0.88	4.03	2.23	0.28157	.	1.232380	0.05526	N	0.563029	T	0.37404	0.1002	L	0.50333	1.59	0.09310	N	1	B	0.17465	0.022	B	0.20577	0.03	T	0.29761	-1.0001	10	0.16420	T	0.52	.	8.1133	0.30928	0.0:0.7871:0.0:0.2129	.	28	Q7L8S5	OTU6A_HUMAN	R	28	ENSP00000339389:S28R	ENSP00000339389:S28R	S	+	3	2	OTUD6A	69199183	0.061000	0.20836	0.009000	0.14445	0.000000	0.00434	0.249000	0.18216	0.462000	0.27095	-0.213000	0.12676	AGC		0.582	OTUD6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358763.1	NM_207320		14	14	0	0	0	0.001855	0	14	14				
GUCY2F	2986	broad.mit.edu	37	X	108638599	108638599	+	Silent	SNP	G	G	T	rs376993031		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:108638599G>T	ENST00000218006.2	-	12	2686	c.2395C>A	c.(2395-2397)Cga>Aga	p.R799R		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	799	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.R799R(2)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AAAGTTGGTCGTTGTTCTGCA	0.502																																							uc004eod.3		NA																	2	Substitution - coding silent(2)		lung(2)	lung(4)|breast(3)|central_nervous_system(1)	8						c.(2395-2397)CGA>AGA		guanylate cyclase 2F precursor							181.0	147.0	158.0					X																	108638599		2203	4300	6503	SO:0001819	synonymous_variant	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108638599G>T	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.2395C>A	X.37:g.108638599G>T						GUCY2F_uc011msq.1_RNA	p.R799R	NM_001522	NP_001513	P51841	GUC2F_HUMAN			12	2671	-			799			Protein kinase.|Cytoplasmic (Potential).		Q9UJF1	Silent	SNP	ENST00000218006.2	37	c.2395C>A	CCDS14545.1																																																																																				0.502	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		134	129	1	0	1.08021e-59	0.00361	2.20072e-59	134	129				
GUCY2F	2986	broad.mit.edu	37	X	108652325	108652325	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:108652325C>A	ENST00000218006.2	-	9	2155	c.1864G>T	c.(1864-1866)Gtg>Ttg	p.V622L		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	622	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.V622L(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AATTCTGTCACAATGGCAAAC	0.408																																							uc004eod.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|breast(3)|central_nervous_system(1)	8						c.(1864-1866)GTG>TTG		guanylate cyclase 2F precursor							155.0	132.0	140.0					X																	108652325		2203	4300	6503	SO:0001583	missense	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108652325C>A	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.1864G>T	X.37:g.108652325C>A	ENSP00000218006:p.Val622Leu					GUCY2F_uc011msq.1_RNA	p.V622L	NM_001522	NP_001513	P51841	GUC2F_HUMAN			9	2140	-			622			Protein kinase.|Cytoplasmic (Potential).		Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	c.1864G>T	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309673	0.81247	.	.	ENSG00000101890	ENST00000218006	D	0.87179	-2.22	5.05	4.19	0.49359	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86690	0.5993	L	0.46819	1.47	0.58432	D	0.999992	P	0.40376	0.715	P	0.50754	0.649	T	0.82896	-0.0230	10	0.25106	T	0.35	.	10.4235	0.44365	0.0:0.9032:0.0:0.0968	.	622	P51841	GUC2F_HUMAN	L	622	ENSP00000218006:V622L	ENSP00000218006:V622L	V	-	1	0	GUCY2F	108538981	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	3.805000	0.55575	1.256000	0.44068	0.600000	0.82982	GTG		0.408	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		100	114	1	0	2.48941e-46	0.00361	4.94261e-46	100	114				
ZCCHC16	340595	broad.mit.edu	37	X	111698533	111698533	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:111698533C>A	ENST00000340433.2	+	1	807	c.577C>A	c.(577-579)Cag>Aag	p.Q193K		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	193							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.Q193K(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGATCCCAACCAGGATGAAGA	0.473																																							uc004epo.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(577-579)CAG>AAG		zinc finger, CCHC domain containing 16							120.0	102.0	108.0					X																	111698533		2203	4300	6503	SO:0001583	missense	340595						nucleic acid binding|zinc ion binding	g.chrX:111698533C>A	AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"""Zinc fingers, CCHC domain containing"""	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.577C>A	X.37:g.111698533C>A	ENSP00000340590:p.Gln193Lys						p.Q193K	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN			3	1018	+			193					B2RPG1	Missense_Mutation	SNP	ENST00000340433.2	37	c.577C>A	CCDS35369.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.607124	0.00842	.	.	ENSG00000187823	ENST00000340433	T	0.31247	1.5	4.12	2.27	0.28462	.	0.473864	0.16720	N	0.202288	T	0.15003	0.0362	L	0.27053	0.805	0.09310	N	1	P	0.40731	0.728	B	0.39339	0.297	T	0.14755	-1.0461	10	0.02654	T	1	1.2561	4.614	0.12417	0.0:0.6523:0.2222:0.1255	.	193	Q6ZR62	ZCH16_HUMAN	K	193	ENSP00000340590:Q193K	ENSP00000340590:Q193K	Q	+	1	0	ZCCHC16	111585189	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.033000	0.12246	0.476000	0.27440	0.529000	0.55759	CAG		0.473	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1	NM_001004308		90	97	1	0	5.66823e-36	0.00361	1.07088e-35	90	97				
TENM1	10178	broad.mit.edu	37	X	123870955	123870955	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:123870955G>T	ENST00000371130.3	-	4	691	c.628C>A	c.(628-630)Ccc>Acc	p.P210T	TENM1_ENST00000422452.2_Missense_Mutation_p.P210T	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	210	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.P212T(2)									GCTGCAGGGGGTGGCTTCCTG	0.622																																							uc004euj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(628-630)CCC>ACC		odz, odd Oz/ten-m homolog 1 isoform 3							75.0	75.0	75.0					X																	123870955		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123870955G>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.628C>A	X.37:g.123870955G>T	ENSP00000360171:p.Pro210Thr					ODZ1_uc011muj.1_Missense_Mutation_p.P210T|ODZ1_uc010nqy.2_Missense_Mutation_p.P210T	p.P210T	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			4	692	-			210			Teneurin N-terminal.|Cytoplasmic (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.628C>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	5.842	0.339547	0.11069	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.27104	1.69;1.69	5.13	0.911	0.19343	Teneurin intracellular, N-terminal (2);	0.090855	0.46145	D	0.000314	T	0.11623	0.0283	N	0.14661	0.345	0.42671	D	0.99351	P;B;B	0.35468	0.503;0.322;0.183	B;B;B	0.41723	0.365;0.179;0.084	T	0.29366	-1.0014	10	0.02654	T	1	.	3.7796	0.08674	0.0754:0.2618:0.3877:0.275	.	210;210;210	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	T	210	ENSP00000360171:P210T;ENSP00000403954:P210T	ENSP00000360171:P210T	P	-	1	0	ODZ1	123698636	0.999000	0.42202	0.940000	0.37924	0.988000	0.76386	2.855000	0.48333	0.032000	0.15435	-0.225000	0.12378	CCC		0.622	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		86	102	1	0	7.68447e-34	0.00361	1.42228e-33	86	102				
SAGE1	55511	broad.mit.edu	37	X	134992580	134992580	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:134992580C>A	ENST00000370709.3	+	15	1871	c.1871C>A	c.(1870-1872)gCa>gAa	p.A624E	SAGE1_ENST00000537770.1_Missense_Mutation_p.A248E|SAGE1_ENST00000324447.3_Missense_Mutation_p.A624E|SAGE1_ENST00000535938.1_Missense_Mutation_p.A624E			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	624						nucleus (GO:0005634)		p.A624E(2)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CCAGATGCTGCAGTCACTCAC	0.468																																							uc004ezh.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1870-1872)GCA>GAA		sarcoma antigen 1							114.0	94.0	101.0					X																	134992580		2203	4300	6503	SO:0001583	missense	55511							g.chrX:134992580C>A	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.1871C>A	X.37:g.134992580C>A	ENSP00000359743:p.Ala624Glu					SAGE1_uc010nry.1_Missense_Mutation_p.A593E|SAGE1_uc011mvv.1_Missense_Mutation_p.A248E	p.A624E	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN			16	2038	+	Acute lymphoblastic leukemia(192;0.000127)		624					Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	c.1871C>A	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.681912	0.29872	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.32988	1.43;1.43;1.5;1.43	1.22	0.188	0.15114	.	0.073855	0.52532	U	0.000072	T	0.19725	0.0474	N	0.19112	0.55	0.09310	N	1	P;P	0.48503	0.694;0.911	B;P	0.47573	0.358;0.55	T	0.10154	-1.0642	10	0.44086	T	0.13	.	4.7585	0.13095	0.0:0.6027:0.3973:0.0	.	248;624	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	E	624;624;248;624	ENSP00000323191:A624E;ENSP00000445959:A624E;ENSP00000438276:A248E;ENSP00000359743:A624E	ENSP00000323191:A624E	A	+	2	0	SAGE1	134820246	0.000000	0.05858	0.001000	0.08648	0.035000	0.12851	0.406000	0.21032	0.004000	0.14682	0.181000	0.17075	GCA		0.468	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		71	76	1	0	1.79293e-35	0.00361	3.37566e-35	71	76				
GPR112	139378	broad.mit.edu	37	X	135431732	135431732	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:135431732C>T	ENST00000394143.1	+	6	6158	c.5867C>T	c.(5866-5868)tCa>tTa	p.S1956L	GPR112_ENST00000370652.1_Missense_Mutation_p.S1956L|GPR112_ENST00000287534.4_Missense_Mutation_p.S1893L|GPR112_ENST00000394141.1_Missense_Mutation_p.S1751L|GPR112_ENST00000412101.1_Missense_Mutation_p.S1751L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1956					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S1956L(2)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GAGAACCCTTCATTATCAACA	0.428																																							uc004ezu.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(5866-5868)TCA>TTA		G-protein coupled receptor 112							109.0	104.0	106.0					X																	135431732		2203	4299	6502	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135431732C>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5867C>T	X.37:g.135431732C>T	ENSP00000377699:p.Ser1956Leu					GPR112_uc010nsb.1_Missense_Mutation_p.S1751L|GPR112_uc010nsc.1_Missense_Mutation_p.S1723L	p.S1956L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	6158	+	Acute lymphoblastic leukemia(192;0.000127)		1956			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.5867C>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	10.85	1.465703	0.26335	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.40225	1.08;1.08;1.04;1.14;1.04	3.84	2.9	0.33743	.	.	.	.	.	T	0.49474	0.1559	L	0.32530	0.975	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.78314	0.964;0.991;0.981	T	0.23048	-1.0199	9	0.59425	D	0.04	.	8.4278	0.32739	0.2309:0.7691:0.0:0.0	.	1893;1751;1956	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	L	1956;1956;1751;1893;1751	ENSP00000377699:S1956L;ENSP00000359686:S1956L;ENSP00000416526:S1751L;ENSP00000287534:S1893L;ENSP00000377697:S1751L	ENSP00000287534:S1893L	S	+	2	0	GPR112	135259398	0.006000	0.16342	0.639000	0.29394	0.028000	0.11728	1.210000	0.32370	1.682000	0.51000	0.530000	0.56133	TCA		0.428	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			72	94	0	0	0	0.00361	0	72	94				
CD40LG	959	broad.mit.edu	37	X	135741330	135741330	+	Missense_Mutation	SNP	G	G	T	rs11575982	byFrequency	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:135741330G>T	ENST00000370629.2	+	5	598	c.542G>T	c.(541-543)cGg>cTg	p.R181L	CD40LG_ENST00000370628.2_Missense_Mutation_p.R160L	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	181					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)	p.R181L(2)		endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					TGTTCCAATCGGGAAGCTTCG	0.463									Immune Deficiency with Hyper-IgM																														uc004faa.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(541-543)CGG>CTG		CD40 ligand	Atorvastatin(DB01076)						223.0	225.0	224.0					X																	135741330		2203	4300	6503	SO:0001583	missense	959	Immune_Deficiency_with_Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding	g.chrX:135741330G>T	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11935	protein-coding gene	gene with protein product	"""CD40 antigen ligand"", ""tumor necrosis factor (ligand) superfamily member 5"", ""T-B cell-activating molecule"", ""TNF-related activation protein"", ""hyper-IgM syndrome"""	300386	"""tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"""	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.542G>T	X.37:g.135741330G>T	ENSP00000359663:p.Arg181Leu					CD40LG_uc010nsd.2_Missense_Mutation_p.R160L	p.R181L	NM_000074	NP_000065	P29965	CD40L_HUMAN			5	614	+	Acute lymphoblastic leukemia(192;0.000127)		181			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000370629.2	37	c.542G>T	CCDS14659.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953142	0.34471	.	.	ENSG00000102245	ENST00000370629;ENST00000370628	D;D	0.94457	-3.43;-3.43	5.56	1.87	0.25490	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.925106	0.09375	N	0.810810	D	0.89581	0.6756	L	0.43152	1.355	0.09310	N	1	P;P	0.36027	0.533;0.519	B;B	0.31290	0.105;0.127	T	0.80933	-0.1161	10	0.66056	D	0.02	-10.9118	4.8672	0.13615	0.5007:0.1578:0.3414:0.0	.	160;181	Q3L8U2;P29965	.;CD40L_HUMAN	L	181;160	ENSP00000359663:R181L;ENSP00000359662:R160L	ENSP00000359662:R160L	R	+	2	0	CD40LG	135568996	0.000000	0.05858	0.218000	0.23776	0.915000	0.54546	-0.401000	0.07232	0.182000	0.20032	0.600000	0.82982	CGG		0.463	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058501.1	NM_000074		273	301	1	0	3.05441e-135	0.00361	6.38969e-135	273	301				
MAGEC1	9947	broad.mit.edu	37	X	140995244	140995244	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:140995244G>A	ENST00000285879.4	+	4	2340	c.2054G>A	c.(2053-2055)gGg>gAg	p.G685E	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	685								p.G685E(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCCTGAGGGGGAGGATTCC	0.577										HNSCC(15;0.026)																													uc004fbt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2053-2055)GGG>GAG		melanoma antigen family C, 1							64.0	66.0	65.0					X																	140995244		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140995244G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2054G>A	X.37:g.140995244G>A	ENSP00000285879:p.Gly685Glu	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.G685E	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	2340	+	Acute lymphoblastic leukemia(192;6.56e-05)		685					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.2054G>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	6.066	0.380435	0.11466	.	.	ENSG00000155495	ENST00000285879	T	0.05649	3.41	0.118	-0.237	0.13061	.	.	.	.	.	T	0.02649	0.0080	N	0.14661	0.345	0.26061	N	0.981344	P	0.42993	0.797	B	0.28784	0.094	T	0.39840	-0.9594	9	0.66056	D	0.02	.	4.7343	0.12981	1.0E-4:0.0:0.642:0.3579	.	685	O60732	MAGC1_HUMAN	E	685	ENSP00000285879:G685E	ENSP00000285879:G685E	G	+	2	0	MAGEC1	140822910	0.067000	0.21026	0.019000	0.16419	0.019000	0.09904	0.105000	0.15333	-1.204000	0.02648	-1.200000	0.01667	GGG		0.577	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		159	132	0	0	0	0.00361	0	159	132				
HAUS7	55559	broad.mit.edu	37	X	152721086	152721086	+	Missense_Mutation	SNP	C	C	G	rs375613209		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:152721086C>G	ENST00000370211.4	-	8	917	c.874G>C	c.(874-876)Gag>Cag	p.E292Q	HAUS7_ENST00000421080.2_Silent_p.A113A|TREX2_ENST00000370232.1_5'UTR|HAUS7_ENST00000484394.1_5'UTR|TREX2_ENST00000338525.2_5'UTR|HAUS7_ENST00000370212.3_Missense_Mutation_p.E292Q|TREX2_ENST00000330912.2_5'UTR|TREX2_ENST00000334497.2_5'UTR	NM_017518.7	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	292					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)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	thioesterase binding (GO:0031996)	p.E292Q(2)|p.E292*(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						TGGCAGCACTCGCCCAGCTCG	0.602																																							uc004fho.1		NA																	3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)		0						c.(874-876)GAG>CAG		HAUS augmin-like complex subunit 7							99.0	83.0	88.0					X																	152721086		2203	4300	6503	SO:0001583	missense	55559				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding	g.chrX:152721086C>G	AF267739	CCDS35438.1	Xq28	2011-10-24	2009-04-20	2009-04-20		ENSG00000213397		"""HAUS augmin-like complex subunits"""	32979	protein-coding gene	gene with protein product	"""UCH37 interacting protein 1"", ""26S proteasome-associated UCH interacting protein 1"""	300540	"""UCHL5 interacting protein"""	UCHL5IP		11163772, 16395595, 19427217	Standard	NM_017518		Approved	UIP1	uc004fho.2	Q99871		ENST00000370211.4:c.874G>C	X.37:g.152721086C>G	ENSP00000359230:p.Glu292Gln					HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA|HAUS7_uc004fhn.1_Missense_Mutation_p.E292Q|HAUS7_uc004fhp.1_RNA	p.E292Q	NM_017518	NP_059988	Q99871	HAUS7_HUMAN			8	1432	-			292					B4DUH6|D3DWT9|Q96HS8|Q9NP54|Q9UFH9	Missense_Mutation	SNP	ENST00000370211.4	37	c.874G>C	CCDS35438.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.090326	0.55968	.	.	ENSG00000213397	ENST00000370211;ENST00000370219;ENST00000370212	T;T;T	0.36520	1.25;1.25;1.25	4.99	4.99	0.66335	.	0.237751	0.41500	D	0.000871	T	0.55673	0.1935	M	0.71581	2.175	0.80722	D	1	D;D	0.71674	0.992;0.998	P;D	0.68353	0.799;0.957	T	0.53899	-0.8373	10	0.33940	T	0.23	-7.175	13.0128	0.58741	0.0:1.0:0.0:0.0	.	292;292	Q99871;Q99871-2	HAUS7_HUMAN;.	Q	282;292;292	ENSP00000359230:E282Q;ENSP00000359239:E292Q;ENSP00000359231:E292Q	ENSP00000359230:E282Q	E	-	1	0	HAUS7	152374280	0.204000	0.23447	0.505000	0.27651	0.216000	0.24613	1.490000	0.35573	2.221000	0.72209	0.292000	0.19580	GAG		0.602	HAUS7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060963.2	NM_017518		48	42	0	0	0	0.00361	0	48	42				
ASB17	127247	broad.mit.edu	37	1	76384701	76384701	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:76384701delG	ENST00000284142.6	-	3	963	c.824delC	c.(823-825)ccafs	p.P275fs		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	275	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						TATTCCATCTGGGAGCATATT	0.338																																							uc001dhe.1		NA																	0				ovary(1)	1						c.(823-825)CCAfs		ankyrin repeat and SOCS box-containing 17							177.0	176.0	176.0					1																	76384701		2203	4299	6502	SO:0001589	frameshift_variant	127247				intracellular signal transduction			g.chr1:76384701delG	AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"""Ankyrin repeat domain containing"""	19769	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 17"""			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.824delC	1.37:g.76384701delG	ENSP00000284142:p.Pro275fs					ASB17_uc001dhf.1_RNA	p.P275fs	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN			3	964	-			275			SOCS box.		B1APB8|Q8N0X5	Frame_Shift_Del	DEL	ENST00000284142.6	37	c.824delC	CCDS671.1																																																																																				0.338	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026982.1	NM_080868		17	144	NA	NA	NA	NA	NA	17	144	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103404607	103404607	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:103404607delC	ENST00000370096.3	-	44	3734	c.3422delG	c.(3421-3423)ggtfs	p.G1141fs	COL11A1_ENST00000353414.4_Frame_Shift_Del_p.G1102fs|COL11A1_ENST00000358392.2_Frame_Shift_Del_p.G1153fs|COL11A1_ENST00000512756.1_Frame_Shift_Del_p.G1025fs	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1141	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCCCTTGTCACCCTTGCTGCC	0.338																																							uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(3421-3423)GGTfs		alpha 1 type XI collagen isoform A							162.0	161.0	161.0					1																	103404607		2203	4300	6503	SO:0001589	frameshift_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103404607delC	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3422delG	1.37:g.103404607delC	ENSP00000359114:p.Gly1141fs					COL11A1_uc001duk.2_Frame_Shift_Del_p.G337fs|COL11A1_uc001dum.2_Frame_Shift_Del_p.G1153fs|COL11A1_uc001dun.2_Frame_Shift_Del_p.G1102fs|COL11A1_uc009weh.2_Frame_Shift_Del_p.G1025fs	p.G1141fs	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	44	3740	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1141			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Frame_Shift_Del	DEL	ENST00000370096.3	37	c.3422delG	CCDS778.1																																																																																				0.338	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		20	205	NA	NA	NA	NA	NA	20	205	---	---	---	---
ATP1A2	477	broad.mit.edu	37	1	160085661	160085662	+	Splice_Site	DEL	GG	GG	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:160085661_160085662delGG	ENST00000361216.3	+	1	99_100	c.10_11delGG	c.(10-12)ggg>g	p.G4fs	ATP1A2_ENST00000392233.3_Splice_Site_p.G4fs	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	4					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GATGGGCCGTGGGGTGAGTATC	0.624																																							uc001fvc.2		NA																	0				central_nervous_system(3)|ovary(2)|skin(2)	7						c.(10-12)GGGfs		Na+/K+ -ATPase alpha 2 subunit proprotein																																				SO:0001630	splice_region_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160085661_160085662delGG	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.12+1GG>-	1.37:g.160085663_160085664delGG						ATP1A2_uc001fvb.2_Frame_Shift_Del_p.G4fs	p.G4fs	NM_000702	NP_000693	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		1	142_143	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		4					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Frame_Shift_Del	DEL	ENST00000361216.3	37	c.10_11delGG	CCDS1196.1																																																																																				0.624	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702	Frame_Shift_Del	7	18	NA	NA	NA	NA	NA	7	18	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	185956655	185956656	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:185956655_185956656insC	ENST00000271588.4	+	20	3256_3257	c.3027_3028insC	c.(3028-3030)ccgfs	p.P1010fs	HMCN1_ENST00000367492.2_Frame_Shift_Ins_p.P1010fs|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1010	Ig-like C2-type 7.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAATCCCAAACCGTCTGTCAT	0.436																																							uc001grq.1		NA																	0				ovary(22)|skin(1)	23						c.(3025-3030)AAACCGfs		hemicentin 1 precursor																																				SO:0001589	frameshift_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185956655_185956656insC	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3029dupC	1.37:g.185956657_185956657dupC	ENSP00000271588:p.Pro1010fs					HMCN1_uc001grr.1_Frame_Shift_Ins_p.K350fs	p.K1009fs	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			20	3256_3257	+			1009_1010			Ig-like C2-type 7.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Frame_Shift_Ins	INS	ENST00000271588.4	37	c.3027_3028insC	CCDS30956.1																																																																																				0.436	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		106	173	NA	NA	NA	NA	NA	106	173	---	---	---	---
CCAR1	55749	broad.mit.edu	37	10	70509285	70509286	+	Frame_Shift_Del	DEL	GA	GA	-	rs147413396		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	GA	GA	-	-	GA	GA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:70509285_70509286delGA	ENST00000265872.6	+	10	1080_1081	c.961_962delGA	c.(961-963)gagfs	p.E321fs	CCAR1_ENST00000543719.1_Frame_Shift_Del_p.E306fs|CCAR1_ENST00000535016.1_Frame_Shift_Del_p.E306fs	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	321	Arg-rich.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TTTCAGTCGTGAGAGAGAGAGA	0.391																																							uc001joo.2		NA																	0				ovary(6)|large_intestine(1)	7						c.(961-963)GAGfs		cell-cycle and apoptosis regulatory protein 1																																				SO:0001589	frameshift_variant	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70509285_70509286delGA	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.961_962delGA	10.37:g.70509295_70509296delGA	ENSP00000265872:p.Glu321fs					CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Frame_Shift_Del_p.E126fs|CCAR1_uc009xpx.1_Frame_Shift_Del_p.E295fs|CCAR1_uc001jon.1_Frame_Shift_Del_p.E267fs|CCAR1_uc010qiz.1_Frame_Shift_Del_p.E306fs|CCAR1_uc010qja.1_Frame_Shift_Del_p.E306fs|CCAR1_uc010qjb.1_RNA	p.E321fs	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN			10	1080_1081	+			321			Arg-rich.		A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Frame_Shift_Del	DEL	ENST00000265872.6	37	c.961_962delGA	CCDS7282.1																																																																																				0.391	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		7	74	NA	NA	NA	NA	NA	7	74	---	---	---	---
GRID1	2894	broad.mit.edu	37	10	87407105	87407105	+	Frame_Shift_Del	DEL	G	G	-	rs371213605	byFrequency	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:87407105delG	ENST00000327946.7	-	13	2132	c.2047delC	c.(2047-2049)cggfs	p.R683fs	RP11-93H12.4_ENST00000474115.2_RNA|GRID1_ENST00000536331.1_Frame_Shift_Del_p.R254fs|RN7SKP238_ENST00000516483.1_RNA	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	683					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GCAGAATCCCGGACAGTGCCA	0.532										Multiple Myeloma(13;0.14)																													uc001kdl.1		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(2047-2049)CGGfs		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						271.0	251.0	257.0					10																	87407105		2203	4300	6503	SO:0001589	frameshift_variant	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87407105delG	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2047delC	10.37:g.87407105delG	ENSP00000330148:p.Arg683fs	Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Frame_Shift_Del_p.R254fs|uc001kdm.1_RNA	p.R683fs	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			13	2148	-			683			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Frame_Shift_Del	DEL	ENST00000327946.7	37	c.2047delC	CCDS31236.1																																																																																				0.532	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		74	514	NA	NA	NA	NA	NA	74	514	---	---	---	---
CYP2C18	1562	broad.mit.edu	37	10	96480183	96480184	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:96480183_96480184insT	ENST00000285979.6	+	6	1049_1050	c.850_851insT	c.(850-852)gttfs	p.V284fs	CYP2C18_ENST00000339022.5_Frame_Shift_Ins_p.V225fs|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	284					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	TGAATTTACTGTTGAAAGCTTG	0.361																																							uc001kjv.3		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(850-852)GTTfs		cytochrome P450 family 2 subfamily C polypeptide																																				SO:0001589	frameshift_variant	1562				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96480183_96480184insT	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.852dupT	10.37:g.96480185_96480185dupT	ENSP00000285979:p.Val284fs					CYP2C18_uc001kjw.3_Frame_Shift_Ins_p.V225fs|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_5'UTR	p.V284fs	NM_000772	NP_000763	P33260	CP2CI_HUMAN		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	6	1176_1177	+		Colorectal(252;0.09)	284					B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Frame_Shift_Ins	INS	ENST00000285979.6	37	c.850_851insT	CCDS7435.1																																																																																				0.361	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772		21	51	NA	NA	NA	NA	NA	21	51	---	---	---	---
OR4P4	81300	broad.mit.edu	37	11	55406728	55406728	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:55406728delG	ENST00000314612.2	+	1	895	c.895delG	c.(895-897)gtgfs	p.V299fs		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						CATGAGGAAAGTGTGGTGTTG	0.393																																							uc010rij.1		NA																	0				central_nervous_system(1)	1						c.(895-897)GTGfs		olfactory receptor, family 4, subfamily P,							129.0	126.0	127.0					11																	55406728		2180	3999	6179	SO:0001589	frameshift_variant	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406728delG	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.895delG	11.37:g.55406728delG	ENSP00000324831:p.Val299fs						p.V299fs	NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN			1	895	+			299			Cytoplasmic (Potential).			Frame_Shift_Del	DEL	ENST00000314612.2	37	c.895delG	CCDS31504.1																																																																																				0.393	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		47	71	NA	NA	NA	NA	NA	47	71	---	---	---	---
LRRC32	2615	broad.mit.edu	37	11	76371428	76371429	+	Frame_Shift_Ins	INS	-	-	G	rs564886279		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:76371428_76371429insG	ENST00000407242.2	-	3	1450_1451	c.1208_1209insC	c.(1207-1209)ccafs	p.P403fs	LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Frame_Shift_Ins_p.P403fs|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Frame_Shift_Ins_p.P403fs	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	403					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CAAAGGTGTATGGGGGCAGGTC	0.663																																							uc001oxq.3		NA																	0					0						c.(1207-1209)CCAfs		leucine rich repeat containing 32 precursor																																				SO:0001589	frameshift_variant	2615					integral to plasma membrane		g.chr11:76371428_76371429insG	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.1209dupC	11.37:g.76371433_76371433dupG	ENSP00000384126:p.Pro403fs					LRRC32_uc001oxr.3_Frame_Shift_Ins_p.P403fs|LRRC32_uc010rsf.1_Frame_Shift_Ins_p.P403fs	p.P403fs	NM_005512	NP_005503	Q14392	LRC32_HUMAN			3	1451_1452	-			403			LRR 14.|Extracellular (Potential).		Q86V06	Frame_Shift_Ins	INS	ENST00000407242.2	37	c.1208_1209insC	CCDS8245.1																																																																																				0.663	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		8	24	NA	NA	NA	NA	NA	8	24	---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101727153	101727153	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:101727153delG	ENST00000261637.4	+	28	3666	c.3492delG	c.(3490-3492)ttgfs	p.L1164fs		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1164					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ATATCTTTTTGGACTGGGAAT	0.348																																							uc001tia.1		NA																	0				ovary(2)|breast(2)	4						c.(3490-3492)TTGfs		down-regulated in metastasis							139.0	139.0	139.0					12																	101727153		2203	4300	6503	SO:0001589	frameshift_variant	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101727153delG	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.3492delG	12.37:g.101727153delG	ENSP00000261637:p.Leu1164fs						p.L1164fs	NM_014503	NP_055318	O75691	UTP20_HUMAN			28	3648	+			1164					Q9H3H4	Frame_Shift_Del	DEL	ENST00000261637.4	37	c.3492delG	CCDS9081.1																																																																																				0.348	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		54	129	NA	NA	NA	NA	NA	54	129	---	---	---	---
ALDH1A2	8854	broad.mit.edu	37	15	58256170	58256177	+	Frame_Shift_Del	DEL	ATAGATGG	ATAGATGG	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	ATAGATGG	ATAGATGG	-	-	ATAGATGG	ATAGATGG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr15:58256170_58256177delATAGATGG	ENST00000249750.4	-	9	1759_1766	c.992_999delCCATCTAT	c.(991-999)tccatctatfs	p.SIY331fs	ALDH1A2_ENST00000558231.1_Frame_Shift_Del_p.SIY302fs|ALDH1A2_ENST00000537372.1_Frame_Shift_Del_p.SIY310fs|ALDH1A2_ENST00000347587.3_Frame_Shift_Del_p.SIY293fs|ALDH1A2_ENST00000559517.1_Frame_Shift_Del_p.SIY235fs	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	331					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	CAAACTCCTCATAGATGGACTCCTCCAC	0.562																																							uc002aex.2		NA																	0				central_nervous_system(1)	1						c.(991-999)TCCATCTATfs		aldehyde dehydrogenase 1A2 isoform 1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)																																			SO:0001589	frameshift_variant	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58256170_58256177delATAGATGG	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.992_999delCCATCTAT	15.37:g.58256170_58256177delATAGATGG	ENSP00000249750:p.Ser331fs					ALDH1A2_uc002aey.2_Frame_Shift_Del_p.S293fs|ALDH1A2_uc010ugv.1_Frame_Shift_Del_p.S310fs|ALDH1A2_uc010ugw.1_Frame_Shift_Del_p.S302fs|ALDH1A2_uc002aew.2_Frame_Shift_Del_p.S235fs	p.S331fs	NM_003888	NP_003879	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	9	1050_1057	-			331_333					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Frame_Shift_Del	DEL	ENST00000249750.4	37	c.992_999delCCATCTAT	CCDS10163.1																																																																																				0.562	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1			20	94	NA	NA	NA	NA	NA	20	94	---	---	---	---
ZG16B	124220	broad.mit.edu	37	16	2882139	2882139	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:2882139delA	ENST00000382280.3	+	4	685	c.606delA	c.(604-606)gcafs	p.A202fs	ZG16B_ENST00000572863.1_Frame_Shift_Del_p.A172fs	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	202					retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						CATACTCAGCAAACTCACCCG	0.552																																							uc002cru.2		NA																	0				ovary(1)	1						c.(604-606)GCAfs		zymogen granule protein 16 homolog B precursor							69.0	70.0	70.0					16																	2882139		2007	4189	6196	SO:0001589	frameshift_variant	124220					extracellular region	sugar binding	g.chr16:2882139delA	BC009722	CCDS10479.2	16p13.3	2014-02-12	2012-12-07		ENSG00000162078	ENSG00000162078			30456	protein-coding gene	gene with protein product	"""jacalin-like lectin domain containing 2"""		"""zymogen granule protein 16 homolog B (rat)"""			12477932	Standard	NM_145252		Approved	HRPE773, PRO1567, JCLN2	uc002cru.3	Q96DA0	OTTHUMG00000128933	ENST00000382280.3:c.606delA	16.37:g.2882139delA	ENSP00000371715:p.Ala202fs						p.A202fs	NM_145252	NP_660295	Q96DA0	ZG16B_HUMAN			4	682	+			202					A6NIY1|B2R4F6|Q6UW28	Frame_Shift_Del	DEL	ENST00000382280.3	37	c.606delA	CCDS10479.2																																																																																				0.552	ZG16B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250912.1	NM_145252		122	114	NA	NA	NA	NA	NA	122	114	---	---	---	---
MEFV	4210	broad.mit.edu	37	16	3293233	3293233	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:3293233delG	ENST00000219596.1	-	10	2293	c.2254delC	c.(2254-2256)cttfs	p.L752fs	MEFV_ENST00000339854.4_Frame_Shift_Del_p.L572fs|MEFV_ENST00000536379.1_Frame_Shift_Del_p.L541fs|MEFV_ENST00000541159.1_3'UTR	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	752	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						ATAGGTTGAAGGGGCCCAGAG	0.532																																							uc002cun.1		NA																	0				central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6						c.(2254-2256)CTTfs		Mediterranean fever protein	Colchicine(DB01394)						94.0	90.0	91.0					16																	3293233		2197	4300	6497	SO:0001589	frameshift_variant	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3293233delG	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.2254delC	16.37:g.3293233delG	ENSP00000219596:p.Leu752fs						p.L752fs	NM_000243	NP_000234	O15553	MEFV_HUMAN			10	2294	-			752			B30.2/SPRY.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Frame_Shift_Del	DEL	ENST00000219596.1	37	c.2254delC	CCDS10498.1																																																																																				0.532	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		94	85	NA	NA	NA	NA	NA	94	85	---	---	---	---
ZNF423	23090	broad.mit.edu	37	16	49669923	49669923	+	Frame_Shift_Del	DEL	G	G	-	rs111229124	byFrequency	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:49669923delG	ENST00000561648.1	-	4	3193	c.3140delC	c.(3139-3141)gcgfs	p.A1047fs	ZNF423_ENST00000262383.2_Frame_Shift_Del_p.A1047fs|ZNF423_ENST00000567169.1_Frame_Shift_Del_p.A930fs|ZNF423_ENST00000535559.1_Frame_Shift_Del_p.A930fs|ZNF423_ENST00000562871.1_Frame_Shift_Del_p.A987fs|ZNF423_ENST00000562520.1_Frame_Shift_Del_p.A987fs|ZNF423_ENST00000563137.2_Frame_Shift_Del_p.A987fs	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1047					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGAGCTGCCCGCCAGCTTCTG	0.617																																							uc002efs.2		NA																	0				ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(3139-3141)GCGfs		zinc finger protein 423							53.0	51.0	52.0					16																	49669923		2199	4300	6499	SO:0001589	frameshift_variant	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49669923delG	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.3140delC	16.37:g.49669923delG	ENSP00000455426:p.Ala1047fs					ZNF423_uc010vgn.1_Frame_Shift_Del_p.A930fs	p.A1047fs	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			5	3438	-		all_cancers(37;0.0155)	1047					O94860|Q76N04|Q9NZ13	Frame_Shift_Del	DEL	ENST00000561648.1	37	c.3140delC	CCDS32445.1																																																																																				0.617	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		8	60	NA	NA	NA	NA	NA	8	60	---	---	---	---
SMARCD2	6603	broad.mit.edu	37	17	61914346	61914346	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:61914346delT	ENST00000448276.2	-	4	768	c.503delA	c.(502-504)aagfs	p.K168fs	RN7SL805P_ENST00000581353.1_RNA|SMARCD2_ENST00000323347.10_Frame_Shift_Del_p.K120fs|SMARCD2_ENST00000225742.9_Frame_Shift_Del_p.K93fs	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	168					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						CTGGTCCAGCTTCCGCTCAAA	0.547																																							uc010deb.1		NA																	0					0						c.(502-504)AAGfs		SWI/SNF-related matrix-associated							94.0	97.0	96.0					17																	61914346		2026	4191	6217	SO:0001589	frameshift_variant	6603				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity	g.chr17:61914346delT	U66618	CCDS45756.1	17q23.3	2014-07-16			ENSG00000108604	ENSG00000108604			11107	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60B"", ""Swp73-like protein"", ""chromatin remodeling complex BAF60B subunit"", ""SWI/SNF complex 60 kDa subunit B"""	601736				8804307, 9693044	Standard	NM_001098426		Approved	BAF60B, Rsc6p, CRACD2, PRO2451	uc010deb.1	Q92925	OTTHUMG00000179045	ENST00000448276.2:c.503delA	17.37:g.61914346delT	ENSP00000392617:p.Lys168fs					SMARCD2_uc010wpt.1_Frame_Shift_Del_p.K120fs|SMARCD2_uc010dea.1_Frame_Shift_Del_p.K93fs|SMARCD2_uc010dec.1_Frame_Shift_Del_p.K147fs	p.K168fs	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN			4	820	-			168					A5PLL5|A6NNQ7|B4DV56|B4E1R6|Q7L2I6|Q9UHZ1	Frame_Shift_Del	DEL	ENST00000448276.2	37	c.503delA	CCDS45756.1																																																																																				0.547	SMARCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444544.1	NM_001098426		10	165	NA	NA	NA	NA	NA	10	165	---	---	---	---
MYO5B	4645	broad.mit.edu	37	18	47463659	47463659	+	Frame_Shift_Del	DEL	T	T	-	rs200891104		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:47463659delT	ENST00000285039.7	-	15	2160	c.1861delA	c.(1861-1863)atgfs	p.M621fs		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	621	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GAGACTTTCATGGGGGGTCTG	0.572																																							uc002leb.2		NA																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1861-1863)ATGfs		myosin VB							112.0	109.0	110.0					18																	47463659		1960	4162	6122	SO:0001589	frameshift_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47463659delT	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.1861delA	18.37:g.47463659delT	ENSP00000285039:p.Met621fs					MYO5B_uc002lec.1_Frame_Shift_Del_p.M620fs	p.M621fs	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	15	2149	-			621			Myosin head-like.		B0I1R3|Q0P656|Q9H6Y6	Frame_Shift_Del	DEL	ENST00000285039.7	37	c.1861delA	CCDS42436.1																																																																																				0.572	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			23	236	NA	NA	NA	NA	NA	23	236	---	---	---	---
ZNF91	7644	broad.mit.edu	37	19	23543836	23543837	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	TA	TA	-	-	TA	TA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:23543836_23543837delTA	ENST00000300619.7	-	4	2149_2150	c.1944_1945delTA	c.(1942-1947)cataagfs	p.HK648fs	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000397082.2_Frame_Shift_Del_p.HK616fs	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	648					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)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGAATTCTCTTATGTTTAGCAA	0.386																																							uc002nre.2		NA																	0					0						c.(1942-1947)CATAAGfs		zinc finger protein 91																																				SO:0001589	frameshift_variant	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23543836_23543837delTA	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1944_1945delTA	19.37:g.23543836_23543837delTA	ENSP00000300619:p.His648fs					ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Frame_Shift_Del_p.H616fs	p.H648fs	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	2057_2058	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	648_649			C2H2-type 18.		A8K5E1|B7Z6G6	Frame_Shift_Del	DEL	ENST00000300619.7	37	c.1944_1945delTA	CCDS42541.1																																																																																				0.386	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		11	139	NA	NA	NA	NA	NA	11	139	---	---	---	---
KIRREL2	84063	broad.mit.edu	37	19	36349458	36349458	+	Splice_Site	DEL	G	G	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:36349458delG	ENST00000360202.5	+	3	558	c.360delG	c.(358-360)ctg>ct	p.L120fs	KIRREL2_ENST00000262625.7_Splice_Site_p.L120fs|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Splice_Site_p.L120fs|KIRREL2_ENST00000347900.6_Splice_Site_p.L70fs	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	120					cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	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)			TGCACGTGCTGGGTAAGGACC	0.602																																							uc002ocb.3		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(358-360)CTGfs		kin of IRRE-like 2 isoform c							80.0	74.0	76.0					19																	36349458		2203	4300	6503	SO:0001630	splice_region_variant	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36349458delG	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.361+1G>-	19.37:g.36349458delG						KIRREL2_uc002obz.3_Frame_Shift_Del_p.L120fs|KIRREL2_uc002oca.3_Frame_Shift_Del_p.L70fs|KIRREL2_uc002occ.3_Frame_Shift_Del_p.L67fs|KIRREL2_uc002ocd.3_Frame_Shift_Del_p.L117fs	p.L120fs	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	572	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		120			Extracellular (Potential).		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Frame_Shift_Del	DEL	ENST00000360202.5	37	c.360delG	CCDS12481.1																																																																																				0.602	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123	Frame_Shift_Del	42	84	NA	NA	NA	NA	NA	42	84	---	---	---	---
PAK7	57144	broad.mit.edu	37	20	9546606	9546606	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr20:9546606delC	ENST00000378429.3	-	6	1962	c.1416delG	c.(1414-1416)gggfs	p.G472fs	PAK7_ENST00000353224.5_Frame_Shift_Del_p.G472fs|PAK7_ENST00000378423.1_Frame_Shift_Del_p.G472fs	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	472	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			CAACTTGTTTCCCTGTGTGTT	0.498																																							uc002wnl.2		NA																	0				lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(1414-1416)GGGfs		p21-activated kinase 7							287.0	261.0	270.0					20																	9546606		2203	4300	6503	SO:0001589	frameshift_variant	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9546606delC	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.1416delG	20.37:g.9546606delC	ENSP00000367686:p.Gly472fs					PAK7_uc002wnk.2_Frame_Shift_Del_p.G472fs|PAK7_uc002wnj.2_Frame_Shift_Del_p.G472fs|PAK7_uc010gby.1_Frame_Shift_Del_p.G472fs	p.G472fs	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		6	1961	-			472			Protein kinase.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Frame_Shift_Del	DEL	ENST00000378429.3	37	c.1416delG	CCDS13107.1																																																																																				0.498	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			111	237	NA	NA	NA	NA	NA	111	237	---	---	---	---
SMARCC1	6599	broad.mit.edu	37	3	47632266	47632266	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:47632266delG	ENST00000254480.5	-	27	3224	c.3105delC	c.(3103-3105)cccfs	p.P1035fs	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	1035	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CTGCAACAGTGGGAATCATGC	0.567																																							uc003crq.2		NA																	0				skin(2)|lung(1)	3						c.(3103-3105)CCCfs		SWI/SNF-related matrix-associated							91.0	83.0	85.0					3																	47632266		2203	4300	6503	SO:0001589	frameshift_variant	6599				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	g.chr3:47632266delG	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.3105delC	3.37:g.47632266delG	ENSP00000254480:p.Pro1035fs					SMARCC1_uc011bbc.1_RNA|SMARCC1_uc011bbd.1_Frame_Shift_Del_p.P926fs	p.P1035fs	NM_003074	NP_003065	Q92922	SMRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	27	3223	-			1035			Pro-rich.		Q17RS0|Q6P172|Q8IWH2	Frame_Shift_Del	DEL	ENST00000254480.5	37	c.3105delC	CCDS2758.1																																																																																				0.567	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			18	109	NA	NA	NA	NA	NA	18	109	---	---	---	---
PCDHGA5	56110	broad.mit.edu	37	5	140745002	140745002	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:140745002delT	ENST00000518069.1	+	1	1105	c.1105delT	c.(1105-1107)tttfs	p.F369fs	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	369	Cadherin 4. {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)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATCGCGCTGTTTAGCGTACA	0.443																																							uc003lju.1		NA																	0				ovary(4)	4						c.(1105-1107)TTTfs		protocadherin gamma subfamily A, 5 isoform 1							98.0	99.0	99.0					5																	140745002		2045	4201	6246	SO:0001589	frameshift_variant	56110				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140745002delT	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1105delT	5.37:g.140745002delT	ENSP00000429834:p.Phe369fs					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_uc011das.1_Frame_Shift_Del_p.F369fs	p.F369fs	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1105	+			369			Cadherin 4.|Extracellular (Potential).		Q2M3F5|Q9Y5D2	Frame_Shift_Del	DEL	ENST00000518069.1	37	c.1105delT	CCDS54925.1																																																																																				0.443	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		21	68	NA	NA	NA	NA	NA	21	68	---	---	---	---
RXRB	6257	broad.mit.edu	37	6	33164224	33164224	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:33164224delC	ENST00000374680.3	-	5	1191	c.980delG	c.(979-981)ggtfs	p.G327fs	RXRB_ENST00000544186.1_Frame_Shift_Del_p.G137fs|RXRB_ENST00000374685.4_Frame_Shift_Del_p.G327fs|RXRB_ENST00000413614.2_Frame_Shift_Del_p.G231fs	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	327	Hinge.				cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	GCTGCCGCTACCCCCGGTTCC	0.622																																							uc003odb.2		NA																	0				ovary(3)	3						c.(979-981)GGTfs		retinoid X receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						140.0	158.0	152.0					6																	33164224		1507	2707	4214	SO:0001589	frameshift_variant	6257				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr6:33164224delC	M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"""Nuclear hormone receptors"""	10478	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 2"""	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.980delG	6.37:g.33164224delC	ENSP00000363812:p.Gly327fs					RXRB_uc003odc.2_Frame_Shift_Del_p.G327fs|RXRB_uc003odd.2_Frame_Shift_Del_p.G231fs|RXRB_uc011dqr.1_Frame_Shift_Del_p.G137fs|RXRB_uc011dqs.1_Frame_Shift_Del_p.G210fs|RXRB_uc003ode.1_Frame_Shift_Del_p.G191fs|RXRB_uc011dqt.1_Frame_Shift_Del_p.G327fs|RXRB_uc011dqu.1_Frame_Shift_Del_p.G231fs	p.G327fs	NM_021976	NP_068811	P28702	RXRB_HUMAN			5	1159	-			327			Hinge.		P28703|Q59G65|Q5JP92|Q5STQ1	Frame_Shift_Del	DEL	ENST00000374680.3	37	c.980delG	CCDS4768.1																																																																																				0.622	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	NM_021976		75	350	NA	NA	NA	NA	NA	75	350	---	---	---	---
EEF1A1	1915	broad.mit.edu	37	6	74229134	74229136	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	TGC	TGC	-	-	TGC	TGC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:74229134_74229136delTGC	ENST00000316292.9	-	2	1239_1241	c.248_250delGCA	c.(247-252)agcaag>aag	p.S83del	EEF1A1_ENST00000491404.1_5'UTR|EEF1A1_ENST00000331523.2_In_Frame_Del_p.S83del|EEF1A1_ENST00000309268.6_In_Frame_Del_p.S83del	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	83	tr-type G.			S -> A (in Ref. 6; CAA27325). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						ACATAGTACTTGCTGGTCTCAAA	0.429											OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																											uc003phi.2		NA																	0					0						c.(247-252)AGCAAG>AAG		eukaryotic translation elongation factor 1 alpha																																				SO:0001651	inframe_deletion	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74229134_74229136delTGC	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.248_250delGCA	6.37:g.74229134_74229136delTGC	ENSP00000339063:p.Ser83del		OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1151	EEF1A1_uc003phd.2_5'Flank|EEF1A1_uc003phe.2_In_Frame_Del_p.S83del|EEF1A1_uc003phf.2_In_Frame_Del_p.S83del|EEF1A1_uc003phg.2_In_Frame_Del_p.S83del|EEF1A1_uc003phh.2_Intron|EEF1A1_uc003phj.2_In_Frame_Del_p.S83del|EEF1A1_uc003phk.2_In_Frame_Del_p.S83del|EEF1A1_uc003phl.2_In_Frame_Del_p.S83del|EEF1A1_uc003phm.1_Intron	p.S83del	NM_001402	NP_001393	P68104	EF1A1_HUMAN			2	285_287	-			83	S -> A (in Ref. 6; CAA27325).				P04719|P04720|Q6IQ15	In_Frame_Del	DEL	ENST00000316292.9	37	c.248_250delGCA	CCDS4980.1																																																																																				0.429	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		22	121	NA	NA	NA	NA	NA	22	121	---	---	---	---
MAGEB1	4112	broad.mit.edu	37	X	30269510	30269510	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:30269510delC	ENST00000378981.3	+	4	1221	c.900delC	c.(898-900)ttcfs	p.F300fs	MAGEB1_ENST00000397548.2_Frame_Shift_Del_p.F300fs|MAGEB1_ENST00000397550.1_Frame_Shift_Del_p.F300fs	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	300	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CCCGTGACTTCCCATCCCATT	0.512																																							uc004dcc.2		NA																	0					0						c.(898-900)TTCfs		melanoma antigen family B, 1							117.0	99.0	105.0					X																	30269510		2202	4300	6502	SO:0001589	frameshift_variant	4112							g.chrX:30269510delC		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.900delC	X.37:g.30269510delC	ENSP00000368264:p.Phe300fs					MAGEB1_uc004dcd.2_Frame_Shift_Del_p.F300fs|MAGEB1_uc004dce.2_Frame_Shift_Del_p.F300fs	p.F300fs	NM_002363	NP_002354	P43366	MAGB1_HUMAN			4	1220	+			300			MAGE.		B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Frame_Shift_Del	DEL	ENST00000378981.3	37	c.900delC	CCDS14222.1																																																																																				0.512	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363		17	99	NA	NA	NA	NA	NA	17	99	---	---	---	---
KIAA1210	57481	broad.mit.edu	37	X	118222495	118222496	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:118222495_118222496insA	ENST00000402510.2	-	11	2696_2697	c.2697_2698insT	c.(2695-2700)cctgaafs	p.E900fs		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	900										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTCTGCTCTTCAGGAGTATTAT	0.505																																							uc004era.3		NA																	0				ovary(4)|skin(1)	5						c.(2695-2700)CCTGAAfs		hypothetical protein LOC57481																																				SO:0001589	frameshift_variant	57481							g.chrX:118222495_118222496insA	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.2698dupT	X.37:g.118222496_118222496dupA	ENSP00000384670:p.Glu900fs						p.P899fs	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			11	2697_2698	-			899_900					B7ZCI8|Q5JPN4	Frame_Shift_Ins	INS	ENST00000402510.2	37	c.2697_2698insT	CCDS48156.1																																																																																				0.505	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		28	35	NA	NA	NA	NA	NA	28	35	---	---	---	---
