#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	1563878	1563878	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:1563878G>A	ENST00000357210.4	+	16	2368	c.2152G>A	c.(2152-2154)Gac>Aac	p.D718N	MIB2_ENST00000504599.1_Missense_Mutation_p.D674N|MIB2_ENST00000355826.5_Missense_Mutation_p.D761N|MIB2_ENST00000360522.4_Missense_Mutation_p.D683N|MIB2_ENST00000378708.1_Missense_Mutation_p.D624N|MIB2_ENST00000378712.1_Missense_Mutation_p.D595N|MIB2_ENST00000378710.3_Missense_Mutation_p.D682N|MIB2_ENST00000518681.1_Missense_Mutation_p.D710N|MIB2_ENST00000520777.1_Missense_Mutation_p.D771N|MIB2_ENST00000505820.2_Missense_Mutation_p.D775N	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	718					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.D718N(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)		GGGCCGCTGTGACGTGAACGT	0.726																																							uc001agg.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2152-2154)GAC>AAC		mindbomb homolog 2							12.0	16.0	15.0					1																	1563878		2084	4172	6256	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.chr1:1563878G>A	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	30577	protein-coding gene	gene with protein product		611141	"""zinc finger, ZZ type with ankyrin repeat domain 1"", ""mindbomb homolog 2 (Drosophila)"""	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.2152G>A	1.37:g.1563878G>A	ENSP00000349741:p.Asp718Asn					MIB2_uc001agh.2_Missense_Mutation_p.D704N|MIB2_uc001agi.2_Missense_Mutation_p.D714N|MIB2_uc001agj.2_Missense_Mutation_p.D559N|MIB2_uc001agk.2_Missense_Mutation_p.D653N|MIB2_uc001agl.1_Missense_Mutation_p.D674N|MIB2_uc001agm.2_Missense_Mutation_p.D595N|MIB2_uc010nyq.1_Missense_Mutation_p.D674N|MIB2_uc009vkh.2_Missense_Mutation_p.D524N|MIB2_uc001agn.2_Missense_Mutation_p.D350N|MIB2_uc001ago.2_5'Flank	p.D718N	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)	16	2279	+	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)	718			ANK 6.		A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Missense_Mutation	SNP	ENST00000357210.4	37	c.2152G>A		.	.	.	.	.	.	.	.	.	.	G	16.08	3.021114	0.54576	.	.	ENSG00000197530	ENST00000520777;ENST00000357210;ENST00000360522;ENST00000378710;ENST00000355826;ENST00000518681;ENST00000505820;ENST00000378712;ENST00000504599;ENST00000378708	T;T;T;T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	4.15	4.15	0.48705	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.56775	0.2008	N	0.21448	0.665	0.58432	D	0.999999	P;D;P;P;D;D;D	0.89917	0.86;1.0;0.752;0.946;1.0;1.0;0.999	P;D;P;P;D;D;D	0.97110	0.544;1.0;0.56;0.868;1.0;0.999;0.995	T	0.51505	-0.8697	10	0.18276	T	0.48	-28.3415	15.5783	0.76410	0.0:0.0:1.0:0.0	.	683;624;595;710;771;704;718	Q96AX9-5;F2Z2L2;B3KXY1;E9PHQ1;E9PGU1;Q96AX9-2;Q96AX9	.;.;.;.;.;.;MIB2_HUMAN	N	771;718;683;682;761;710;775;595;674;624	ENSP00000428660:D771N;ENSP00000349741:D718N;ENSP00000353713:D683N;ENSP00000367982:D682N;ENSP00000348081:D761N;ENSP00000428264:D710N;ENSP00000426103:D775N;ENSP00000367984:D595N;ENSP00000426128:D674N;ENSP00000367980:D624N	ENSP00000348081:D761N	D	+	1	0	MIB2	1553741	1.000000	0.71417	0.998000	0.56505	0.744000	0.42396	9.158000	0.94723	2.130000	0.65690	0.491000	0.48974	GAC		0.726	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_080875		8	27	0	0	0	0.00308	0	8	27				
PANK4	55229	broad.mit.edu	37	1	2440356	2440356	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:2440356G>C	ENST00000378466.3	-	19	2264	c.2252C>G	c.(2251-2253)gCg>gGg	p.A751G	PANK4_ENST00000435556.3_Missense_Mutation_p.A712G	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	751					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)	p.A751G(1)		breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GGCCAGCCACGCGTTCTTGAT	0.652																																							uc001ajm.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|large_intestine(1)|ovary(1)	3						c.(2251-2253)GCG>GGG		pantothenate kinase 4							28.0	29.0	28.0					1																	2440356		2192	4294	6486	SO:0001583	missense	55229				coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity	g.chr1:2440356G>C	AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.2252C>G	1.37:g.2440356G>C	ENSP00000367727:p.Ala751Gly					PANK4_uc010nza.1_Missense_Mutation_p.A712G	p.A751G	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	19	2261	-	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	751					B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Missense_Mutation	SNP	ENST00000378466.3	37	c.2252C>G	CCDS42.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334779	0.60853	.	.	ENSG00000157881	ENST00000378466;ENST00000435556	T;T	0.06849	3.25;3.25	5.31	5.31	0.75309	Domain of unknown function DUF89 (2);	0.301958	0.36854	N	0.002374	T	0.09905	0.0243	L	0.34521	1.04	0.36292	D	0.856491	B;B	0.23058	0.079;0.038	B;B	0.29176	0.074;0.099	T	0.22695	-1.0209	10	0.31617	T	0.26	-15.5063	17.953	0.89059	0.0:0.0:1.0:0.0	.	712;751	E9PHT6;Q9NVE7	.;PANK4_HUMAN	G	751;712	ENSP00000367727:A751G;ENSP00000421433:A712G	ENSP00000367727:A751G	A	-	2	0	PANK4	2430216	1.000000	0.71417	0.920000	0.36463	0.812000	0.45895	9.010000	0.93611	2.507000	0.84556	0.561000	0.74099	GCG		0.652	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002082.1			9	8	0	0	0	0.010729	0	9	8				
PTCHD2	57540	broad.mit.edu	37	1	11596438	11596438	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:11596438G>T	ENST00000294484.6	+	21	4012	c.3874G>T	c.(3874-3876)Gcc>Tcc	p.A1292S	PTCHD2_ENST00000304391.6_Missense_Mutation_p.G178V|PTCHD2_ENST00000389575.3_Missense_Mutation_p.A1292S	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1292					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)	p.A1509S(2)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CGTGGGCGTGGCCATCGTCTC	0.657																																							uc001ash.3		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|pancreas(1)|breast(1)	7						c.(3874-3876)GCC>TCC		patched domain containing 2							83.0	86.0	85.0					1																	11596438		2197	4276	6473	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11596438G>T	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.3874G>T	1.37:g.11596438G>T	ENSP00000294484:p.Ala1292Ser						p.A1292S	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	21	4012	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	1292			Helical; (Potential).		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.3874G>T	CCDS41247.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.34|18.34	3.603518|3.603518	0.66445|0.66445	.|.	.|.	ENSG00000204624|ENSG00000204624	ENST00000294484;ENST00000389575|ENST00000304391	D;D|.	0.92249|.	-3.0;-1.96|.	4.89|4.89	4.89|4.89	0.63831|0.63831	Membrane transport protein, MMPL type (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.49609|0.49609	0.1567|0.1567	N|N	0.05554|0.05554	-0.025|-0.025	0.58432|0.58432	D|D	0.99999|0.99999	D|.	0.53462|.	0.96|.	P|.	0.60473|.	0.875|.	T|T	0.61053|0.61053	-0.7140|-0.7140	10|6	0.18276|0.87932	T|D	0.48|0	-30.0473|-30.0473	17.0791|17.0791	0.86593|0.86593	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1292|.	Q9P2K9|.	PTHD2_HUMAN|.	S|V	1292|178	ENSP00000294484:A1292S;ENSP00000374226:A1292S|.	ENSP00000294484:A1292S|ENSP00000303400:G178V	A|G	+|+	1|2	0|0	PTCHD2|PTCHD2	11519025|11519025	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.622000|7.622000	0.83099|0.83099	2.256000|2.256000	0.74724|0.74724	0.655000|0.655000	0.94253|0.94253	GCC|GGC		0.657	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		38	69	1	0	9.8876e-21	0.021022	1.27919e-20	38	69				
SPATA21	374955	broad.mit.edu	37	1	16727321	16727321	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:16727321C>T	ENST00000335496.1	-	11	1550	c.1068G>A	c.(1066-1068)cgG>cgA	p.R356R	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Silent_p.R333R	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	356							calcium ion binding (GO:0005509)	p.R356R(2)		breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		GCAACCGCAGCCGGCCTACGG	0.592																																							uc001ayn.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(1)	3						c.(1066-1068)CGG>CGA		spermatogenesis associated 21							110.0	125.0	120.0					1																	16727321		2203	4300	6503	SO:0001819	synonymous_variant	374955						calcium ion binding	g.chr1:16727321C>T		CCDS172.1	1p36.13	2013-01-10			ENSG00000187144	ENSG00000187144		"""EF-hand domain containing"""	28026	protein-coding gene	gene with protein product							Standard	NM_198546		Approved	spergen-2, spergen2	uc001ayn.3	Q7Z572	OTTHUMG00000002312	ENST00000335496.1:c.1068G>A	1.37:g.16727321C>T						SPATA21_uc001ayl.1_RNA|SPATA21_uc010occ.1_Silent_p.R333R	p.R356R	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)	11	1551	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	356					B9EK40|F5GXP5	Silent	SNP	ENST00000335496.1	37	c.1068G>A	CCDS172.1																																																																																				0.592	SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006677.2	NM_198546		115	293	0	0	0	0.01441	0	115	293				
PLA2G2A	5320	broad.mit.edu	37	1	20304613	20304613	+	Splice_Site	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:20304613A>T	ENST00000375111.3	-	5	458	c.187T>A	c.(187-189)Tgc>Agc	p.C63S	PLA2G2A_ENST00000496748.1_5'UTR|PLA2G2A_ENST00000400520.3_Splice_Site_p.C63S	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)	63					defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of epithelial cell proliferation (GO:0050680)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidic acid metabolic process (GO:0046473)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|small molecule metabolic process (GO:0044281)|somatic stem cell maintenance (GO:0035019)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|phospholipase A2 activity (GO:0004623)|phospholipid binding (GO:0005543)	p.C63S(2)		central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Diclofenac(DB00586)|Ginkgo biloba(DB01381)|Indomethacin(DB00328)|Suramin(DB04786)	GTGACACAGCAGCTGTGAGGA	0.562																																							uc001bcu.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(187-189)TGC>AGC		phospholipase A2, group IIA precursor							85.0	77.0	80.0					1																	20304613		2203	4300	6503	SO:0001630	splice_region_variant	5320				defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding	g.chr1:20304613A>T	BC005919	CCDS201.1	1p35	2008-09-19			ENSG00000188257	ENSG00000188257	3.1.1.4		9031	protein-coding gene	gene with protein product		172411		PLA2B, PLA2L		8838795	Standard	NM_000300		Approved		uc010odb.2	P14555	OTTHUMG00000002699	ENST00000375111.3:c.186-1T>A	1.37:g.20304613A>T						PLA2G2A_uc001bcv.2_Missense_Mutation_p.C63S|PLA2G2A_uc010oda.1_Missense_Mutation_p.C63S|PLA2G2A_uc010odb.1_Missense_Mutation_p.C63S	p.C63S	NM_001161729	NP_001155201	P14555	PA2GA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	4	405	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	63					A8K5I7|Q6DN24|Q6IBD9|Q9UCD2	Missense_Mutation	SNP	ENST00000375111.3	37	c.187T>A	CCDS201.1	.	.	.	.	.	.	.	.	.	.	A	15.24	2.774033	0.49786	.	.	ENSG00000188257	ENST00000400520;ENST00000375111	T;T	0.37584	1.19;1.19	5.1	5.1	0.69264	Phospholipase A2 (3);	0.000000	0.64402	D	0.000007	T	0.67477	0.2897	M	0.93638	3.44	0.40399	D	0.979625	D	0.89917	1.0	D	0.97110	1.0	T	0.76498	-0.2937	10	0.87932	D	0	.	11.1923	0.48691	1.0:0.0:0.0:0.0	.	63	P14555	PA2GA_HUMAN	S	63	ENSP00000383364:C63S;ENSP00000364252:C63S	ENSP00000364252:C63S	C	-	1	0	PLA2G2A	20177200	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	2.882000	0.48546	2.135000	0.66039	0.460000	0.39030	TGC		0.562	PLA2G2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007675.1	NM_000300	Missense_Mutation	24	58	0	0	0	0.021523	0	24	58				
ZBTB40	9923	broad.mit.edu	37	1	22837737	22837737	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:22837737C>A	ENST00000375647.4	+	10	2106	c.1899C>A	c.(1897-1899)gcC>gcA	p.A633A	ZBTB40_ENST00000374651.4_Silent_p.A521A|ZBTB40_ENST00000404138.1_Silent_p.A633A	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	633					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|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.A633A(2)		endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		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;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TGAGCAGAGCCATGGAAAAAT	0.512																																							uc001bft.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1897-1899)GCC>GCA		zinc finger and BTB domain containing 40							98.0	103.0	102.0					1																	22837737		2203	4300	6503	SO:0001819	synonymous_variant	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22837737C>A	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.1899C>A	1.37:g.22837737C>A						ZBTB40_uc001bfu.2_Silent_p.A633A|ZBTB40_uc009vqi.1_Silent_p.A521A|ZBTB40_uc001bfv.1_Silent_p.A262A	p.A633A	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	11	2410	+		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)	633					O75066|Q5TFU5|Q8N1R1	Silent	SNP	ENST00000375647.4	37	c.1899C>A	CCDS224.1																																																																																				0.512	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		42	234	1	0	4.67007e-22	0.00874	6.08195e-22	42	234				
LIN28A	79727	broad.mit.edu	37	1	26738039	26738039	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:26738039C>T	ENST00000326279.6	+	2	308	c.194C>T	c.(193-195)gCg>gTg	p.A65V	LIN28A_ENST00000254231.4_Missense_Mutation_p.A65V	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	65	CSD.				germ cell development (GO:0007281)|miRNA catabolic process (GO:0010587)|negative regulation of glial cell differentiation (GO:0045686)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of translation (GO:0045727)|pre-miRNA processing (GO:0031054)|regulation of gene silencing by miRNA (GO:0060964)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.A65V(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						GCCGGGGTCGCGCTCGACCCC	0.647																																							uc001bmj.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(193-195)GCG>GTG		lin-28 homolog							47.0	53.0	51.0					1																	26738039		2202	4300	6502	SO:0001583	missense	79727				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding	g.chr1:26738039C>T	AF521099	CCDS280.1	1p35.3	2013-01-09	2010-04-06	2010-04-06	ENSG00000131914	ENSG00000131914		"""Zinc fingers, CCHC domain containing"""	15986	protein-coding gene	gene with protein product		611043	"""lin-28 homolog (C. elegans)"""	LIN28		12798299	Standard	XM_006710899		Approved	LIN-28, FLJ12457, ZCCHC1, CSDD1	uc001bmj.3	Q9H9Z2	OTTHUMG00000003550	ENST00000326279.6:c.194C>T	1.37:g.26738039C>T	ENSP00000363314:p.Ala65Val					LIN28A_uc001bmi.1_RNA	p.A65V	NM_024674	NP_078950	Q9H9Z2	LN28A_HUMAN			2	308	+			65			CSD.			Missense_Mutation	SNP	ENST00000326279.6	37	c.194C>T	CCDS280.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735540	0.30774	.	.	ENSG00000131914	ENST00000326279;ENST00000254231	T;T	0.44083	0.93;0.93	5.74	4.83	0.62350	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);Nucleic acid-binding, OB-fold (1);	0.409072	0.22422	N	0.060279	T	0.18964	0.0455	N	0.02539	-0.55	0.26776	N	0.969705	B	0.20459	0.045	B	0.13407	0.009	T	0.09015	-1.0694	10	0.51188	T	0.08	-8.5212	10.162	0.42858	0.0:0.8603:0.0:0.1396	.	65	Q9H9Z2	LN28A_HUMAN	V	65	ENSP00000363314:A65V;ENSP00000254231:A65V	ENSP00000254231:A65V	A	+	2	0	LIN28A	26610626	0.615000	0.27026	1.000000	0.80357	0.942000	0.58702	3.931000	0.56529	2.726000	0.93360	0.650000	0.86243	GCG		0.647	LIN28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009891.2	NM_024674		43	99	0	0	0	0.01441	0	43	99				
ZSCAN20	7579	broad.mit.edu	37	1	33954745	33954745	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:33954745C>T	ENST00000361328.3	+	4	788	c.635C>T	c.(634-636)cCa>cTa	p.P212L	ZSCAN20_ENST00000480917.1_3'UTR|ZSCAN20_ENST00000373413.2_Intron	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	212					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P212L(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCTACTCTCCCAAAGATGGGG	0.517																																							uc001bxj.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(634-636)CCA>CTA		zinc finger protein 31							114.0	113.0	113.0					1																	33954745		1948	4138	6086	SO:0001583	missense	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33954745C>T	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.635C>T	1.37:g.33954745C>T	ENSP00000355053:p.Pro212Leu					ZSCAN20_uc001bxk.2_Intron|ZSCAN20_uc009vui.2_Missense_Mutation_p.P212L	p.P212L	NM_145238	NP_660281	P17040	ZSC20_HUMAN			4	802	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	212					A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	c.635C>T	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233411	0.79688	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	6.03	4.18	0.49190	.	0.095877	0.46758	N	0.000264	T	0.60011	0.2236	M	0.73217	2.22	0.46437	D	0.999045	B;B	0.23249	0.082;0.049	B;B	0.25140	0.058;0.026	T	0.58607	-0.7607	9	0.54805	T	0.06	-0.6466	9.4631	0.38796	0.0:0.8548:0.0:0.1452	.	212;212	P17040-3;P17040	.;ZSC20_HUMAN	L	212;146;146	.	ENSP00000324450:P212L	P	+	2	0	ZSCAN20	33727332	0.946000	0.32159	0.996000	0.52242	0.998000	0.95712	1.823000	0.39062	0.898000	0.36418	0.555000	0.69702	CCA		0.517	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		16	54	0	0	0	0.008871	0	16	54				
CSMD2	114784	broad.mit.edu	37	1	34554714	34554714	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:34554714C>A	ENST00000373381.4	-	2	444	c.268G>T	c.(268-270)Gcc>Tcc	p.A90S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	50	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A50S(2)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTGCAGTTGGCGTAATTGGGG	0.552																																							uc001bxn.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(5)|pancreas(1)	12						c.(148-150)GCC>TCC		CUB and Sushi multiple domains 2							109.0	88.0	95.0					1																	34554714		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34554714C>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.268G>T	1.37:g.34554714C>A	ENSP00000362479:p.Ala90Ser					CSMD2_uc001bxm.1_Missense_Mutation_p.A90S	p.A50S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			2	177	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	50			CUB 1.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.148G>T		.	.	.	.	.	.	.	.	.	.	C	28.1	4.890310	0.91889	.	.	ENSG00000121904	ENST00000373381	T	0.34472	1.36	5.24	5.24	0.73138	CUB (5);	0.000000	0.64402	U	0.000006	T	0.53753	0.1816	L	0.43757	1.38	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.997;1.0	T	0.49762	-0.8905	10	0.45353	T	0.12	.	18.1698	0.89742	0.0:1.0:0.0:0.0	.	50;90	Q7Z408;E7EUA6	CSMD2_HUMAN;.	S	90	ENSP00000362479:A90S	ENSP00000241312:A50S	A	-	1	0	CSMD2	34327301	1.000000	0.71417	0.986000	0.45419	0.927000	0.56198	7.818000	0.86416	2.598000	0.87819	0.655000	0.94253	GCC		0.552	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		21	56	1	0	4.4004e-07	0.01892	4.84539e-07	21	56				
NCDN	23154	broad.mit.edu	37	1	36029491	36029491	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:36029491G>A	ENST00000373243.2	+	6	2117	c.1734G>A	c.(1732-1734)cgG>cgA	p.R578R	NCDN_ENST00000356090.4_Silent_p.R578R|NCDN_ENST00000373253.3_Silent_p.R561R	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	578					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)		p.R561R(2)|p.R578R(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCATGGCCCGGCTCCTTAGCA	0.572																																							uc001bza.2		NA																	4	Substitution - coding silent(4)		lung(4)	large_intestine(2)|pancreas(1)	3						c.(1732-1734)CGG>CGA		neurochondrin isoform 1							48.0	48.0	48.0					1																	36029491		2203	4300	6503	SO:0001819	synonymous_variant	23154				neuron projection development	cytosol|dendrite|neuronal cell body		g.chr1:36029491G>A	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1734G>A	1.37:g.36029491G>A						NCDN_uc001bzb.2_Silent_p.R578R|NCDN_uc001bzc.2_Silent_p.R561R	p.R578R	NM_001014839	NP_001014839	Q9UBB6	NCDN_HUMAN			7	1861	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	578					D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Silent	SNP	ENST00000373243.2	37	c.1734G>A	CCDS392.1	.	.	.	.	.	.	.	.	.	.	G	7.766	0.706434	0.15239	.	.	ENSG00000020129	ENST00000423723	.	.	.	4.55	3.6	0.41247	.	.	.	.	.	T	0.56062	0.1960	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50767	-0.8789	4	.	.	.	-0.2245	7.2662	0.26232	0.0913:0.1733:0.7354:0.0	.	.	.	.	D	172	.	.	G	+	2	0	NCDN	35802078	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.599000	0.24089	0.847000	0.35167	0.462000	0.41574	GGC		0.572	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284		23	59	0	0	0	0.014323	0	23	59				
MTF1	4520	broad.mit.edu	37	1	38280877	38280877	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:38280877A>T	ENST00000373036.4	-	11	2333	c.2193T>A	c.(2191-2193)aaT>aaA	p.N731K		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	731					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGGGAATCAGATTGGACGGGG	0.547																																							uc001cce.1		NA																	0				ovary(1)|pancreas(1)	2						c.(2191-2193)AAT>AAA		metal-regulatory transcription factor 1							94.0	93.0	93.0					1																	38280877		2203	4300	6503	SO:0001583	missense	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38280877A>T	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.2193T>A	1.37:g.38280877A>T	ENSP00000362127:p.Asn731Lys						p.N731K	NM_005955	NP_005946	Q14872	MTF1_HUMAN			11	2334	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	731					B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	c.2193T>A	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	A	12.26	1.885152	0.33255	.	.	ENSG00000188786	ENST00000373036	T	0.11169	2.8	5.48	3.15	0.36227	.	0.682189	0.14294	N	0.328720	T	0.12774	0.0310	M	0.61703	1.905	0.25589	N	0.986719	B	0.13594	0.008	B	0.14578	0.011	T	0.14980	-1.0453	10	0.62326	D	0.03	.	8.0823	0.30752	0.7367:0.0:0.2633:0.0	.	731	Q14872	MTF1_HUMAN	K	731	ENSP00000362127:N731K	ENSP00000362127:N731K	N	-	3	2	MTF1	38053464	0.989000	0.36119	0.969000	0.41365	0.982000	0.71751	0.384000	0.20668	0.932000	0.37266	0.460000	0.39030	AAT		0.547	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		6	158	0	0	0	0.001168	0	6	158				
MACF1	23499	broad.mit.edu	37	1	39765882	39765882	+	Splice_Site	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:39765882G>C	ENST00000372915.3	+	21	2584	c.2497G>C	c.(2497-2499)Gat>Cat	p.D833H	MACF1_ENST00000539005.1_Splice_Site_p.D833H|MACF1_ENST00000317713.7_Splice_Site_p.D833H|MACF1_ENST00000545844.1_Splice_Site_p.D833H|MACF1_ENST00000567887.1_Splice_Site_p.D865H|MACF1_ENST00000361689.2_Splice_Site_p.D833H|MACF1_ENST00000564288.1_Splice_Site_p.D828H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	833					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.D833H(2)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CATTTTGTAGGATGAAAAGGA	0.418																																							uc010ois.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(2497-2499)GAT>CAT		microfilament and actin filament cross-linker							161.0	151.0	154.0					1																	39765882		2203	4300	6503	SO:0001630	splice_region_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39765882G>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.2497-1G>C	1.37:g.39765882G>C						MACF1_uc001cda.1_Missense_Mutation_p.D741H|MACF1_uc001cdc.1_5'UTR|MACF1_uc009vvq.1_5'UTR|MACF1_uc001cdb.1_5'UTR	p.D833H	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		23	2702	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	833					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.2497G>C		.	.	.	.	.	.	.	.	.	.	G	20.4	3.990531	0.74589	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	D;D;D;D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-3.71	5.8	5.8	0.92144	.	.	.	.	.	D	0.96697	0.8922	M	0.75777	2.31	0.80722	D	1	B;D	0.54207	0.003;0.965	B;P	0.51866	0.005;0.682	D	0.96851	0.9625	9	0.87932	D	0	.	20.0425	0.97596	0.0:0.0:1.0:0.0	.	833;798	F8W8Q1;Q9UPN3-3	.;.	H	833;833;833;833;833;791;982;995	ENSP00000439537:D833H;ENSP00000362006:D833H;ENSP00000354573:D833H;ENSP00000313438:D833H;ENSP00000444364:D833H;ENSP00000435070:D791H;ENSP00000437059:D982H	ENSP00000313438:D833H	D	+	1	0	MACF1	39538469	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.745000	0.94114	0.650000	0.86243	GAT		0.418	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	Missense_Mutation	16	180	0	0	0	0.006122	0	16	180				
MACF1	23499	broad.mit.edu	37	1	39788376	39788376	+	Missense_Mutation	SNP	A	A	G	rs367571121		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:39788376A>G	ENST00000372915.3	+	31	4228	c.4141A>G	c.(4141-4143)Atc>Gtc	p.I1381V	MACF1_ENST00000539005.1_Missense_Mutation_p.I1381V|MACF1_ENST00000317713.7_Missense_Mutation_p.I1381V|MACF1_ENST00000545844.1_Missense_Mutation_p.I1381V|MACF1_ENST00000567887.1_Missense_Mutation_p.I1413V|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.I1381V|MACF1_ENST00000564288.1_Missense_Mutation_p.I1376V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1381					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.I1381V(3)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTCAGATGCCATCACTCAAGA	0.488																																							uc010ois.1		NA																	3	Substitution - Missense(3)		lung(3)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(4141-4143)ATC>GTC		microfilament and actin filament cross-linker		A	VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	87.0	89.0	88.0		4141	5.9	1.0	1		88	0,8600		0,0,4300	no	missense	MACF1	NM_012090.4	29	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077		1381/5431	39788376	1,13005	2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39788376A>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.4141A>G	1.37:g.39788376A>G	ENSP00000362006:p.Ile1381Val					MACF1_uc001cda.1_Missense_Mutation_p.I1289V|MACF1_uc001cdc.1_Missense_Mutation_p.I468V|MACF1_uc009vvq.1_Missense_Mutation_p.I438V|MACF1_uc001cdb.1_Missense_Mutation_p.I468V	p.I1381V	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		33	4346	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1381					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.4141A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.7|23.7	4.452947|4.452947	0.84209|0.84209	2.27E-4|2.27E-4	0.0|0.0	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262	.|T;T;T;T;T;T;T	.|0.37411	.|1.2;1.2;1.2;1.2;1.2;1.2;1.2	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|.	.|.	.|.	.|.	T|T	0.41926|0.41926	0.1180|0.1180	M|M	0.62209|0.62209	1.925|1.925	0.80722|0.80722	D|D	1|1	.|P;P;B	.|0.35493	.|0.505;0.48;0.011	.|B;B;B	.|0.40375	.|0.327;0.28;0.011	T|T	0.19224|0.19224	-1.0312|-1.0312	5|9	.|0.20519	.|T	.|0.43	.|.	16.3742|16.3742	0.83379|0.83379	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1381;1381;1346	.|F8W8Q1;Q9UPN3-2;Q9UPN3-3	.|.;.;.	R|V	514|1381;1381;1381;1381;1381;1339;1530	.|ENSP00000439537:I1381V;ENSP00000362006:I1381V;ENSP00000354573:I1381V;ENSP00000313438:I1381V;ENSP00000444364:I1381V;ENSP00000435070:I1339V;ENSP00000437059:I1530V	.|ENSP00000313438:I1381V	H|I	+|+	2|1	0|0	MACF1|MACF1	39560963|39560963	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.453000|7.453000	0.80700|0.80700	2.263000|2.263000	0.75096|0.75096	0.533000|0.533000	0.62120|0.62120	CAT|ATC		0.488	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		33	91	0	0	0	0.010818	0	33	91				
NFYC	4802	broad.mit.edu	37	1	41236480	41236480	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:41236480C>T	ENST00000308733.5	+	10	1363	c.1357C>T	c.(1357-1359)Ccc>Tcc	p.P453S	NFYC_ENST00000372654.1_Missense_Mutation_p.P330S|NFYC_ENST00000440226.3_Missense_Mutation_p.P330S|NFYC_ENST00000372651.1_Missense_Mutation_p.P330S|NFYC_ENST00000372652.1_Missense_Mutation_p.P434S|NFYC_ENST00000447388.3_Missense_Mutation_p.P330S|NFYC_ENST00000456393.2_Missense_Mutation_p.P329S|NFYC_ENST00000427410.2_Missense_Mutation_p.P292S|NFYC_ENST00000372653.1_Missense_Mutation_p.P296S|NFYC_ENST00000425457.2_Missense_Mutation_p.P349S			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	453					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|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 coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.P330S(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			CGGGCAGGCCCCCCAGGTGAC	0.642																																							uc001cge.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|kidney(1)	3						c.(1357-1359)CCC>TCC		nuclear transcription factor Y, gamma isoform 1							55.0	53.0	53.0					1																	41236480		2203	4299	6502	SO:0001583	missense	4802				protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:41236480C>T	U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.1357C>T	1.37:g.41236480C>T	ENSP00000312617:p.Pro453Ser					NFYC_uc001cfx.3_Missense_Mutation_p.P349S|NFYC_uc009vwd.2_Missense_Mutation_p.P330S|NFYC_uc001cfz.2_Missense_Mutation_p.P329S|NFYC_uc010ojn.1_Missense_Mutation_p.P292S|NFYC_uc001cfy.3_Missense_Mutation_p.P330S|NFYC_uc001cgc.2_Missense_Mutation_p.P296S|NFYC_uc001cgb.2_Missense_Mutation_p.P434S|NFYC_uc001cgd.3_Missense_Mutation_p.P330S	p.P453S	NM_001142588	NP_001136060	Q13952	NFYC_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)		10	1365	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	453					B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	Missense_Mutation	SNP	ENST00000308733.5	37	c.1357C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.59|13.59	2.282344|2.282344	0.40394|0.40394	.|.	.|.	ENSG00000066136|ENSG00000066136	ENST00000372655|ENST00000427410;ENST00000447388;ENST00000425457;ENST00000456393;ENST00000372654;ENST00000372653;ENST00000372652;ENST00000372651;ENST00000440226;ENST00000308733	.|T;T;T;T;T;T;T;T;T;T	.|0.44482	.|0.92;1.53;1.51;1.56;1.53;1.47;1.2;1.53;1.53;1.23	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.049300|0.049300	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.38453|0.38453	0.1041|0.1041	L|L	0.44542|0.44542	1.39|1.39	0.28512|0.28512	N|N	0.913519|0.913519	.|B;P;B;P;P;P;B	.|0.42456	.|0.073;0.78;0.018;0.705;0.51;0.51;0.397	.|B;B;B;B;B;B;B	.|0.41510	.|0.037;0.265;0.017;0.359;0.185;0.185;0.176	T|T	0.46442|0.46442	-0.9191|-0.9191	7|10	0.87932|0.72032	D|D	0|0.01	.|.	12.2927|12.2927	0.54827|0.54827	0.1693:0.8306:0.0:0.0|0.1693:0.8306:0.0:0.0	.|.	.|292;453;296;434;329;330;349	.|B4DW63;Q13952;Q5T6K9;Q13952-3;F8VWM3;Q13952-2;B4DUS6	.|.;NFYC_HUMAN;.;.;.;.;.	L|S	225|292;330;349;329;330;296;434;330;330;453	.|ENSP00000408315:P292S;ENSP00000404427:P330S;ENSP00000396620:P349S;ENSP00000408867:P329S;ENSP00000361738:P330S;ENSP00000361737:P296S;ENSP00000361736:P434S;ENSP00000361734:P330S;ENSP00000414299:P330S;ENSP00000312617:P453S	ENSP00000361739:P225L|ENSP00000312617:P453S	P|P	+|+	2|1	0|0	NFYC|NFYC	41009067|41009067	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	3.641000|3.641000	0.54360|0.54360	2.764000|2.764000	0.94973|0.94973	0.558000|0.558000	0.71614|0.71614	CCC|CCC		0.642	NFYC-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000020802.1	NM_014223		20	111	0	0	0	0.010504	0	20	111				
EDN2	1907	broad.mit.edu	37	1	41948217	41948217	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:41948217C>T	ENST00000372587.4	-	3	333	c.264G>A	c.(262-264)cgG>cgA	p.R88R	EDN2_ENST00000490783.1_5'UTR	NM_001956.3	NP_001947.1	P20800	EDN2_HUMAN	endothelin 2	88					artery smooth muscle contraction (GO:0014824)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|energy homeostasis (GO:0097009)|hormonal regulation of the force of heart contraction (GO:0003058)|inositol phosphate-mediated signaling (GO:0048016)|lung alveolus development (GO:0048286)|macrophage activation (GO:0042116)|macrophage chemotaxis (GO:0048246)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of heart rate (GO:0010460)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of the force of heart contraction by chemical signal (GO:0003099)|prostaglandin biosynthetic process (GO:0001516)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|temperature homeostasis (GO:0001659)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)	p.R88R(2)		endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGAGCGGCGCCGGCGTCTTG	0.662																																							uc001cgx.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(262-264)CGG>CGA		endothelin 2 preproprotein							25.0	33.0	30.0					1																	41948217		2201	4296	6497	SO:0001819	synonymous_variant	1907				artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space	endothelin B receptor binding|hormone activity	g.chr1:41948217C>T	M65199	CCDS462.1	1p34	2013-02-26			ENSG00000127129	ENSG00000127129		"""Endogenous ligands"""	3177	protein-coding gene	gene with protein product		131241					Standard	NM_001956		Approved	ET2	uc009vwh.3	P20800	OTTHUMG00000006362	ENST00000372587.4:c.264G>A	1.37:g.41948217C>T						EDN2_uc001cgu.2_RNA|EDN2_uc001cgv.2_RNA|EDN2_uc009vwh.2_5'UTR|EDN2_uc001cgw.2_RNA|EDN2_uc009vwi.2_Intron|EDN2_uc009vwj.2_Intron	p.R88R	NM_001956	NP_001947	P20800	EDN2_HUMAN			3	336	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	88					Q5T1R3	Silent	SNP	ENST00000372587.4	37	c.264G>A	CCDS462.1																																																																																				0.662	EDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000016983.1	NM_001956		13	22	0	0	0	0.004007	0	13	22				
ELAVL4	1996	broad.mit.edu	37	1	50659526	50659526	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:50659526G>A	ENST00000371823.4	+	4	668	c.444G>A	c.(442-444)ctG>ctA	p.L148L	ELAVL4_ENST00000371821.1_Silent_p.L153L|ELAVL4_ENST00000371819.1_Silent_p.L153L|ELAVL4_ENST00000448907.2_Silent_p.L151L|ELAVL4_ENST00000371827.1_Silent_p.L148L|ELAVL4_ENST00000371824.1_Silent_p.L148L|ELAVL4_ENST00000357083.4_Silent_p.L165L	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	148	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						AGAAGGAACTGGAGCAACTTT	0.463																																							uc001csb.2		NA																	0				ovary(1)|pancreas(1)	2						c.(442-444)CTG>CTA		ELAV-like 4 isoform 1							187.0	165.0	172.0					1																	50659526		2203	4300	6503	SO:0001819	synonymous_variant	1996				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	g.chr1:50659526G>A	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.444G>A	1.37:g.50659526G>A						ELAVL4_uc001cry.3_Silent_p.L151L|ELAVL4_uc001crz.3_Silent_p.L148L|ELAVL4_uc001csa.3_Silent_p.L165L|ELAVL4_uc001csc.3_Silent_p.L148L|ELAVL4_uc009vyu.2_Silent_p.L153L|ELAVL4_uc010omz.1_Silent_p.L153L	p.L148L	NM_021952	NP_068771	P26378	ELAV4_HUMAN			4	712	+			148			RRM 2.		B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Silent	SNP	ENST00000371823.4	37	c.444G>A	CCDS553.1																																																																																				0.463	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952		82	190	0	0	0	0.01441	0	82	190				
NRD1	4898	broad.mit.edu	37	1	52301803	52301803	+	Splice_Site	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:52301803T>C	ENST00000354831.7	-	5	1105	c.916A>G	c.(916-918)Atg>Gtg	p.M306V	NRD1_ENST00000544028.1_Splice_Site_p.M106V|NRD1_ENST00000352171.7_Splice_Site_p.M238V|NRD1_ENST00000539524.1_Splice_Site_p.M174V|MIR761_ENST00000390787.1_RNA|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	237					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.M306V(2)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AAATTCTTACTGTGCTCCAAA	0.423																																							uc001ctc.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(916-918)ATG>GTG		nardilysin isoform a							49.0	54.0	52.0					1																	52301803		2203	4300	6503	SO:0001630	splice_region_variant	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52301803T>C	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.916+1A>G	1.37:g.52301803T>C						NRD1_uc009vzb.2_Missense_Mutation_p.M1V|NRD1_uc001ctd.3_Missense_Mutation_p.M238V|NRD1_uc001cte.2_Missense_Mutation_p.M174V|NRD1_uc001ctf.2_Missense_Mutation_p.M238V|NRD1_uc010ong.1_RNA|NRD1_uc009vzc.1_Missense_Mutation_p.M106V	p.M306V	NM_002525	NP_002516	O43847	NRDC_HUMAN			5	1238	-			237					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	c.916A>G	CCDS559.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.505718	0.85282	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	5.83	5.83	0.93111	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.032941	0.85682	D	0.000000	T	0.48277	0.1491	M	0.78049	2.395	0.80722	D	1	P;P;P	0.48162	0.885;0.906;0.906	P;P;P	0.56563	0.699;0.801;0.801	T	0.45571	-0.9252	9	.	.	.	-12.7114	16.1952	0.82023	0.0:0.0:0.0:1.0	.	238;237;306	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	V	238;306;174;238;106	ENSP00000262679:M238V;ENSP00000346890:M306V;ENSP00000444416:M174V;ENSP00000442262:M106V	.	M	-	1	0	NRD1	52074391	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.422000	0.80217	2.236000	0.73375	0.482000	0.46254	ATG		0.423	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525	Missense_Mutation	21	46	0	0	0	0.014323	0	21	46				
ZFYVE9	9372	broad.mit.edu	37	1	52704107	52704107	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:52704107C>T	ENST00000371591.1	+	3	1149	c.1018C>T	c.(1018-1020)Ctt>Ttt	p.L340F	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.L340F|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.L340F	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	340					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)	p.L340F(2)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TTTACCTTTGCTTCTCAAACC	0.453																																							uc001cto.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						c.(1018-1020)CTT>TTT		zinc finger, FYVE domain containing 9 isoform 3							106.0	99.0	102.0					1																	52704107		2203	4299	6502	SO:0001583	missense	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52704107C>T	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.1018C>T	1.37:g.52704107C>T	ENSP00000360647:p.Leu340Phe					ZFYVE9_uc001ctn.2_Missense_Mutation_p.L340F|ZFYVE9_uc001ctp.2_Missense_Mutation_p.L340F	p.L340F	NM_004799	NP_004790	O95405	ZFYV9_HUMAN			4	1190	+			340					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	c.1018C>T	CCDS563.1	.	.	.	.	.	.	.	.	.	.	C	6.783	0.513461	0.12944	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	4.75	-0.235	0.13071	.	0.729696	0.11602	N	0.547630	T	0.26085	0.0636	N	0.19112	0.55	0.09310	N	1	B;B;B	0.10296	0.001;0.001;0.003	B;B;B	0.12156	0.003;0.001;0.007	T	0.16482	-1.0401	10	0.40728	T	0.16	.	2.2512	0.04043	0.1491:0.5058:0.1364:0.2087	.	340;340;340	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	F	340	ENSP00000349737:L340F;ENSP00000355358:L340F;ENSP00000287727:L340F;ENSP00000360647:L340F	ENSP00000287727:L340F	L	+	1	0	ZFYVE9	52476695	0.491000	0.26019	0.969000	0.41365	0.968000	0.65278	0.489000	0.22387	0.358000	0.24211	0.563000	0.77884	CTT		0.453	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		54	123	0	0	0	0.01441	0	54	123				
TTC22	55001	broad.mit.edu	37	1	55266541	55266541	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:55266541T>C	ENST00000371276.4	-	1	399	c.296A>G	c.(295-297)aAc>aGc	p.N99S	TTC22_ENST00000371274.4_Missense_Mutation_p.N99S	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	99								p.N99S(4)		kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						GGCATTGAGGTTGCCCGGGTG	0.687																																							uc009vzt.1		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(295-297)AAC>AGC		tetratricopeptide repeat domain 22 isoform 1							12.0	14.0	13.0					1																	55266541		2190	4290	6480	SO:0001583	missense	55001						binding	g.chr1:55266541T>C	AK000626	CCDS598.1, CCDS44152.1	1p32.3	2013-01-11			ENSG00000006555	ENSG00000006555		"""Tetratricopeptide (TTC) repeat domain containing"""	26067	protein-coding gene	gene with protein product							Standard	NM_017904		Approved	FLJ20619	uc009vzt.1	Q5TAA0	OTTHUMG00000009916	ENST00000371276.4:c.296A>G	1.37:g.55266541T>C	ENSP00000360323:p.Asn99Ser					TTC22_uc001cxz.3_Missense_Mutation_p.N99S	p.N99S	NM_001114108	NP_001107580	Q5TAA0	TTC22_HUMAN			1	401	-			99			TPR 1.		Q9NWT4	Missense_Mutation	SNP	ENST00000371276.4	37	c.296A>G	CCDS44152.1	.	.	.	.	.	.	.	.	.	.	T	19.20	3.782603	0.70222	.	.	ENSG00000006555	ENST00000371276;ENST00000371274	T;T	0.32988	1.43;1.43	4.31	4.31	0.51392	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.51958	0.1705	M	0.68593	2.085	0.58432	D	0.999994	D;D	0.76494	0.999;0.996	D;D	0.77557	0.987;0.99	T	0.56498	-0.7969	10	0.87932	D	0	-17.4587	12.8566	0.57888	0.0:0.0:0.0:1.0	.	99;99	Q5TAA0;Q5TAA0-2	TTC22_HUMAN;.	S	99	ENSP00000360323:N99S;ENSP00000360321:N99S	ENSP00000360321:N99S	N	-	2	0	TTC22	55039129	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	3.825000	0.55730	1.919000	0.55581	0.379000	0.24179	AAC		0.687	TTC22-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027438.1	NM_017904		13	15	0	0	0	0.013537	0	13	15				
SERBP1	26135	broad.mit.edu	37	1	67878931	67878931	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:67878931G>C	ENST00000370995.2	-	8	1271	c.1186C>G	c.(1186-1188)Cct>Gct	p.P396A	SERBP1_ENST00000361219.6_Missense_Mutation_p.P381A|SERBP1_ENST00000370994.4_Missense_Mutation_p.P375A|SERBP1_ENST00000370990.5_Missense_Mutation_p.P390A			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	396					regulation of apoptotic process (GO:0042981)|regulation of mRNA stability (GO:0043488)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						TCCACATCAGGAGCAGAAGCA	0.418																																							uc001ddv.2		NA																	0				skin(1)	1						c.(1186-1188)CCT>GCT		SERPINE1 mRNA binding protein 1 isoform 1							56.0	54.0	55.0					1																	67878931		2203	4300	6503	SO:0001583	missense	26135				regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding	g.chr1:67878931G>C	AF151813	CCDS639.1, CCDS30746.1, CCDS30747.1, CCDS30748.1	1p31	2009-12-17			ENSG00000142864	ENSG00000142864			17860	protein-coding gene	gene with protein product		607378				11001948, 10810093, 18440126, 17698176	Standard	NM_001018067		Approved	PAI-RBP1, DKFZP564M2423, CGI-55, HABP4L, PAIRBP1, CHD3IP	uc001ddv.3	Q8NC51	OTTHUMG00000009372	ENST00000370995.2:c.1186C>G	1.37:g.67878931G>C	ENSP00000360034:p.Pro396Ala					SERBP1_uc001ddx.2_Missense_Mutation_p.P390A|SERBP1_uc001ddy.2_Missense_Mutation_p.P375A|SERBP1_uc001ddw.2_Missense_Mutation_p.P381A	p.P396A	NM_001018067	NP_001018077	Q8NC51	PAIRB_HUMAN			8	1326	-			396					Q5VU19|Q5VU20|Q5VU22|Q8WUH0|Q96SE2|Q9BTY3|Q9BUM4|Q9Y367|Q9Y4S3	Missense_Mutation	SNP	ENST00000370995.2	37	c.1186C>G	CCDS30746.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.869489	0.51588	.	.	ENSG00000142864	ENST00000370994;ENST00000370995;ENST00000361219;ENST00000370990	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.80934	0.4719	M	0.81341	2.54	0.80722	D	1	D;P;P;P	0.76494	0.999;0.651;0.72;0.646	D;B;B;B	0.75484	0.986;0.266;0.212;0.234	T	0.82930	-0.0213	9	0.72032	D	0.01	-27.1622	19.1431	0.93452	0.0:0.0:1.0:0.0	.	438;453;381;396	D3DQ69;D3DQ70;Q8NC51-3;Q8NC51	.;.;.;PAIRB_HUMAN	A	375;396;381;390	.	ENSP00000354591:P381A	P	-	1	0	SERBP1	67651519	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.776000	0.99001	2.613000	0.88420	0.637000	0.83480	CCT		0.418	SERBP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025984.2	NM_001018067		4	47	0	0	0	0.001984	0	4	47				
DIRAS3	9077	broad.mit.edu	37	1	68512673	68512673	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:68512673C>A	ENST00000370981.1	-	4	944	c.308G>T	c.(307-309)cGc>cTc	p.R103L	GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA|DIRAS3_ENST00000395201.1_Missense_Mutation_p.R103L			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	103					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of gene expression by genetic imprinting (GO:0006349)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R103L(2)		NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TATAACGTGGCGCTGCAGAGC	0.577																																							uc001ded.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(307-309)CGC>CTC		DIRAS family, GTP-binding RAS-like 3							114.0	123.0	120.0					1																	68512673		2203	4300	6503	SO:0001583	missense	9077				regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr1:68512673C>A	U96750	CCDS641.1	1p31	2014-05-09		2005-01-27	ENSG00000162595	ENSG00000162595			687	protein-coding gene	gene with protein product		605193	"""ras homolog gene family, member I"""	ARHI		9874798	Standard	XM_006711027		Approved	NOEY2	uc001ded.3	O95661	OTTHUMG00000009544	ENST00000370981.1:c.308G>T	1.37:g.68512673C>A	ENSP00000360020:p.Arg103Leu					uc001deb.1_Intron|uc001dec.1_Intron	p.R103L	NM_004675	NP_004666	O95661	DIRA3_HUMAN			2	603	-			103					B3KMP3	Missense_Mutation	SNP	ENST00000370981.1	37	c.308G>T	CCDS641.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261471	0.80358	.	.	ENSG00000162595	ENST00000370981;ENST00000395201	T;T	0.70749	-0.51;-0.51	4.48	1.33	0.21861	Small GTP-binding protein domain (1);	.	.	.	.	T	0.74673	0.3747	M	0.86178	2.8	0.31057	N	0.714595	D	0.71674	0.998	D	0.74348	0.983	T	0.67444	-0.5669	9	0.72032	D	0.01	.	6.4371	0.21829	0.0:0.6711:0.1483:0.1807	.	103	O95661	DIRA3_HUMAN	L	103	ENSP00000360020:R103L;ENSP00000378627:R103L	ENSP00000360020:R103L	R	-	2	0	DIRAS3	68285261	1.000000	0.71417	0.002000	0.10522	0.026000	0.11368	4.333000	0.59285	0.048000	0.15891	0.655000	0.94253	CGC		0.577	DIRAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026354.2	NM_004675		58	308	1	0	1.13205e-32	0.01441	1.54352e-32	58	308				
NEGR1	257194	broad.mit.edu	37	1	72163734	72163734	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:72163734A>T	ENST00000357731.5	-	4	863	c.624T>A	c.(622-624)gaT>gaA	p.D208E	NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000306821.3_Missense_Mutation_p.D80E|NEGR1_ENST00000434200.1_Intron	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	208	Ig-like C2-type 2.			D -> A (in Ref. 2). {ECO:0000305}.	feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.D208E(2)		endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GGAATGACACATCATTTTCCG	0.353																																							uc001dfw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(622-624)GAT>GAA		neuronal growth regulator 1 precursor							130.0	121.0	124.0					1																	72163734		2202	4300	6502	SO:0001583	missense	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:72163734A>T	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.624T>A	1.37:g.72163734A>T	ENSP00000350364:p.Asp208Glu					NEGR1_uc001dfv.2_Missense_Mutation_p.D80E|NEGR1_uc010oqs.1_Intron	p.D208E	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	4	724	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	208	D -> A (in Ref. 2).		Ig-like C2-type 2.		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	ENST00000357731.5	37	c.624T>A	CCDS661.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.455675	0.63401	.	.	ENSG00000172260	ENST00000357731;ENST00000306821	T;T	0.63913	-0.07;-0.07	5.58	1.98	0.26296	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.046712	0.85682	D	0.000000	T	0.35393	0.0930	N	0.11698	0.16	0.80722	D	1	P	0.35600	0.511	P	0.48654	0.585	T	0.30090	-0.9990	10	0.42905	T	0.14	-7.0547	7.3989	0.26952	0.5567:0.0:0.4433:0.0	.	208	Q7Z3B1	NEGR1_HUMAN	E	208;80	ENSP00000350364:D208E;ENSP00000305938:D80E	ENSP00000305938:D80E	D	-	3	2	NEGR1	71936322	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	0.787000	0.26858	0.423000	0.26033	-0.353000	0.07706	GAT		0.353	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		21	125	0	0	0	0.014323	0	21	125				
ZZZ3	26009	broad.mit.edu	37	1	78098634	78098634	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:78098634G>A	ENST00000370801.3	-	5	881	c.406C>T	c.(406-408)Cct>Tct	p.P136S	ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'Flank	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	136					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P136S(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						GATTTTATAGGAGAATCTTCT	0.383																																							uc001dhq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(1)	5						c.(406-408)CCT>TCT		zinc finger, ZZ-type containing 3							135.0	140.0	138.0					1																	78098634		2203	4300	6503	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78098634G>A	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.406C>T	1.37:g.78098634G>A	ENSP00000359837:p.Pro136Ser					ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.P136S|ZZZ3_uc001dhp.2_Missense_Mutation_p.P136S	p.P136S	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN			5	882	-			136					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.406C>T	CCDS677.1	.	.	.	.	.	.	.	.	.	.	G	7.245	0.602006	0.13939	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.55	5.55	0.83447	.	0.472717	0.24592	N	0.037201	T	0.15003	0.0362	N	0.05124	-0.11	0.80722	D	1	B;B;B	0.19583	0.037;0.004;0.007	B;B;B	0.18561	0.022;0.007;0.015	T	0.12553	-1.0543	8	.	.	.	.	11.3321	0.49482	0.1408:0.0:0.8592:0.0	.	136;136;136	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	S	136	.	.	P	-	1	0	ZZZ3	77871222	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	2.319000	0.43788	2.759000	0.94783	0.650000	0.86243	CCT		0.383	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		89	172	0	0	0	0.01441	0	89	172				
GBP3	2635	broad.mit.edu	37	1	89481013	89481013	+	Missense_Mutation	SNP	G	G	A	rs142900270	byFrequency	TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:89481013G>A	ENST00000370481.4	-	3	495	c.275C>T	c.(274-276)aCc>aTc	p.T92I	GBP3_ENST00000475853.2_5'UTR	NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	141	GB1/RHD3-type G.				axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.T92I(2)		breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		CAGGACTAAGGTGTGTTCTGG	0.458																																							uc001dmt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(274-276)ACC>ATC		guanylate binding protein 3							168.0	158.0	162.0					1																	89481013		2203	4300	6503	SO:0001583	missense	2635					integral to membrane	GTP binding|GTPase activity	g.chr1:89481013G>A	BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.275C>T	1.37:g.89481013G>A	ENSP00000359512:p.Thr92Ile					GBP3_uc010oss.1_Missense_Mutation_p.T13I|GBP3_uc001dmu.2_5'UTR|GBP3_uc001dmv.2_RNA	p.T92I	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN		all cancers(265;0.0103)|Epithelial(280;0.0293)	3	480	-		Lung NSC(277;0.123)	92					A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	ENST00000370481.4	37	c.275C>T	CCDS717.2	.	.	.	.	.	.	.	.	.	.	G	7.024	0.559286	0.13436	.	.	ENSG00000117226	ENST00000370482;ENST00000370481;ENST00000235878	T;T	0.75938	-0.98;-0.98	3.27	1.31	0.21738	Guanylate-binding protein, N-terminal (1);	0.346954	0.28803	N	0.014083	T	0.57213	0.2038	M	0.82823	2.61	0.09310	N	1	B	0.15473	0.013	B	0.25291	0.059	T	0.58864	-0.7561	10	0.56958	D	0.05	.	6.2543	0.20865	0.1136:0.1891:0.6973:0.0	.	92	Q9H0R5	GBP3_HUMAN	I	92	ENSP00000359512:T92I;ENSP00000235878:T92I	ENSP00000235878:T92I	T	-	2	0	GBP3	89253601	0.410000	0.25376	0.000000	0.03702	0.495000	0.33615	1.710000	0.37920	0.214000	0.20742	0.404000	0.27445	ACC		0.458	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313541.3	NM_018284		34	243	0	0	0	0.013726	0	34	243				
GBP3	2635	broad.mit.edu	37	1	89481019	89481019	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:89481019T>G	ENST00000370481.4	-	3	489	c.269A>C	c.(268-270)gAa>gCa	p.E90A	GBP3_ENST00000475853.2_5'UTR	NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	139	GB1/RHD3-type G.				axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.E90A(2)		breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TAAGGTGTGTTCTGGCTTTTT	0.458																																							uc001dmt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(268-270)GAA>GCA		guanylate binding protein 3							166.0	157.0	160.0					1																	89481019		2203	4300	6503	SO:0001583	missense	2635					integral to membrane	GTP binding|GTPase activity	g.chr1:89481019T>G	BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.269A>C	1.37:g.89481019T>G	ENSP00000359512:p.Glu90Ala					GBP3_uc010oss.1_Missense_Mutation_p.E11A|GBP3_uc001dmu.2_5'UTR|GBP3_uc001dmv.2_RNA	p.E90A	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN		all cancers(265;0.0103)|Epithelial(280;0.0293)	3	474	-		Lung NSC(277;0.123)	90					A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	ENST00000370481.4	37	c.269A>C	CCDS717.2	.	.	.	.	.	.	.	.	.	.	T	4.525	0.097430	0.08681	.	.	ENSG00000117226	ENST00000370482;ENST00000370481;ENST00000235878	T;T	0.61742	0.08;0.08	3.27	-0.696	0.11287	Guanylate-binding protein, N-terminal (1);	0.915854	0.09450	N	0.800576	T	0.24353	0.0590	L	0.46614	1.455	0.09310	N	1	B	0.12013	0.005	B	0.18263	0.021	T	0.29731	-1.0002	10	0.26408	T	0.33	.	7.2891	0.26356	0.0:0.471:0.0:0.529	.	90	Q9H0R5	GBP3_HUMAN	A	90	ENSP00000359512:E90A;ENSP00000235878:E90A	ENSP00000235878:E90A	E	-	2	0	GBP3	89253607	0.000000	0.05858	0.000000	0.03702	0.530000	0.34684	0.418000	0.21230	-0.251000	0.09542	0.332000	0.21555	GAA		0.458	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313541.3	NM_018284		33	244	0	0	0	0.010818	0	33	244				
LRRC8C	84230	broad.mit.edu	37	1	90178876	90178876	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:90178876G>T	ENST00000370454.4	+	3	1002	c.747G>T	c.(745-747)agG>agT	p.R249S	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	249					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R249S(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		AGAAGTTCAGGCTGCATGTGG	0.403																																							uc001dnl.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(745-747)AGG>AGT		leucine rich repeat containing 8 family, member							108.0	109.0	109.0					1																	90178876		2203	4300	6503	SO:0001583	missense	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90178876G>T		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.747G>T	1.37:g.90178876G>T	ENSP00000359483:p.Arg249Ser						p.R249S	NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	989	+		all_lung(203;0.126)	249					B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	ENST00000370454.4	37	c.747G>T	CCDS725.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420811	0.42918	.	.	ENSG00000171488	ENST00000370454	T	0.29917	1.55	6.05	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.39145	0.1067	M	0.79123	2.44	0.51482	D	0.999926	D	0.89917	1.0	D	0.91635	0.999	T	0.43442	-0.9391	10	0.87932	D	0	.	4.633	0.12511	0.2928:0.1584:0.5488:0.0	.	249	Q8TDW0	LRC8C_HUMAN	S	249	ENSP00000359483:R249S	ENSP00000359483:R249S	R	+	3	2	LRRC8C	89951464	0.990000	0.36364	1.000000	0.80357	0.997000	0.91878	0.443000	0.21644	0.869000	0.35703	0.650000	0.86243	AGG		0.403	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		52	108	1	0	3.77171e-38	0.01441	5.19688e-38	52	108				
ZNF644	84146	broad.mit.edu	37	1	91406850	91406850	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:91406850C>A	ENST00000370440.1	-	3	278	c.61G>T	c.(61-63)Ggg>Tgg	p.G21W	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.G21W|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	21					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.G21W(3)		breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTGGCAAGCCCATTTAACACA	0.299																																							uc001dnw.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)|breast(1)|skin(1)	3						c.(61-63)GGG>TGG		zinc finger protein 644 isoform 1							93.0	101.0	98.0					1																	91406850		2203	4298	6501	SO:0001583	missense	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91406850C>A	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.61G>T	1.37:g.91406850C>A	ENSP00000359469:p.Gly21Trp					ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.G21W	p.G21W	NM_201269	NP_958357	Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	203	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	21					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	c.61G>T	CCDS731.1	.	.	.	.	.	.	.	.	.	.	C	8.906	0.957651	0.18507	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000541557	T;T	0.00608	6.25;6.25	5.9	5.9	0.94986	.	0.090300	0.49305	D	0.000154	T	0.00695	0.0023	N	0.24115	0.695	0.37925	D	0.931824	D	0.57257	0.979	P	0.56163	0.793	D	0.83879	0.0278	10	0.87932	D	0	-1.8714	20.2787	0.98501	0.0:1.0:0.0:0.0	.	21	Q9H582	ZN644_HUMAN	W	21	ENSP00000359469:G21W;ENSP00000337008:G21W	ENSP00000337008:G21W	G	-	1	0	ZNF644	91179438	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.247000	0.43151	2.798000	0.96311	0.650000	0.86243	GGG		0.299	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		29	136	1	0	1.90571e-15	0.019004	2.34181e-15	29	136				
PLPPR5	163404	broad.mit.edu	37	1	99470209	99470209	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:99470209C>T	ENST00000263177.4	-	1	240	c.19G>A	c.(19-21)Gcg>Acg	p.A7T	RP5-896L10.1_ENST00000425113.1_RNA|LPPR5_ENST00000534652.1_5'Flank|LPPR5_ENST00000370188.3_Missense_Mutation_p.A7T	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		7						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.A7T(2)									CTGGTGAGCGCCGCGGGCAGC	0.687																																							uc001dsb.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(19-21)GCG>ACG		phosphatidic acid phosphatase type 2d isoform 1							60.0	51.0	54.0					1																	99470209		2202	4300	6502	SO:0001583	missense	163404					integral to membrane	hydrolase activity	g.chr1:99470209C>T																												ENST00000263177.4:c.19G>A	1.37:g.99470209C>T	ENSP00000263177:p.Ala7Thr					uc001dsd.1_Intron|LPPR5_uc001dsc.2_Missense_Mutation_p.A7T	p.A7T	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN			1	241	-			7					A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	ENST00000263177.4	37	c.19G>A	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908317	0.52333	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.32753	1.44;1.45	3.32	2.4	0.29515	.	0.331017	0.23692	U	0.045520	T	0.03390	0.0098	N	0.08118	0	0.30221	N	0.796837	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43540	-0.9385	10	0.07644	T	0.81	.	6.3284	0.21257	0.0:0.8576:0.0:0.1424	.	7;7	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	T	7	ENSP00000359207:A7T;ENSP00000263177:A7T	ENSP00000263177:A7T	A	-	1	0	AL161744.1	99242797	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.342000	0.52159	0.709000	0.31976	0.555000	0.69702	GCG		0.687	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			39	63	0	0	0	0.010771	0	39	63				
OLFM3	118427	broad.mit.edu	37	1	102271669	102271669	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:102271669C>A	ENST00000338858.5	-	5	721	c.722G>T	c.(721-723)tGg>tTg	p.W241L	OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000370103.4_Missense_Mutation_p.W221L			Q96PB7	NOE3_HUMAN	olfactomedin 3	241	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)		p.W221L(2)|p.W241L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GTCTGTCATCCAAGCACCAAA	0.408																																							uc001duf.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)|skin(1)	3						c.(721-723)TGG>TTG		olfactomedin 3							171.0	155.0	160.0					1																	102271669		2203	4300	6503	SO:0001583	missense	118427					extracellular region		g.chr1:102271669C>A	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.722G>T	1.37:g.102271669C>A	ENSP00000345192:p.Trp241Leu					OLFM3_uc001dug.2_Missense_Mutation_p.W221L|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Missense_Mutation_p.W146L|OLFM3_uc001due.2_RNA	p.W241L	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	5	793	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	241			Olfactomedin-like.		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37	c.722G>T		.	.	.	.	.	.	.	.	.	.	C	28.0	4.881081	0.91740	.	.	ENSG00000118733	ENST00000424771;ENST00000370103;ENST00000338858	D;D	0.94046	-3.34;-3.34	5.17	5.17	0.71159	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.97688	0.9242	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.992	D	0.98781	1.0732	10	0.87932	D	0	.	18.667	0.91493	0.0:1.0:0.0:0.0	.	221;241	Q5T3V6;Q96PB7	.;NOE3_HUMAN	L	92;221;241	ENSP00000359121:W221L;ENSP00000345192:W241L	ENSP00000345192:W241L	W	-	2	0	OLFM3	102044257	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.747000	0.85070	2.423000	0.82170	0.591000	0.81541	TGG		0.408	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			49	156	1	0	2.55665e-31	0.01441	3.45588e-31	49	156				
COL11A1	1301	broad.mit.edu	37	1	103461446	103461446	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:103461446C>A	ENST00000370096.3	-	28	2626	c.2314G>T	c.(2314-2316)Ggt>Tgt	p.G772C	COL11A1_ENST00000353414.4_Missense_Mutation_p.G733C|COL11A1_ENST00000358392.2_Missense_Mutation_p.G784C|COL11A1_ENST00000512756.1_Missense_Mutation_p.G656C	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	772	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)		CCCTTGAGACCTCTGACACCA	0.279																																							uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(2314-2316)GGT>TGT		alpha 1 type XI collagen isoform A							80.0	90.0	87.0					1																	103461446		2203	4297	6500	SO:0001583	missense	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.chr1:103461446C>A	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.2314G>T	1.37:g.103461446C>A	ENSP00000359114:p.Gly772Cys					COL11A1_uc001duk.2_Translation_Start_Site|COL11A1_uc001dum.2_Missense_Mutation_p.G784C|COL11A1_uc001dun.2_Missense_Mutation_p.G733C|COL11A1_uc009weh.2_Missense_Mutation_p.G656C	p.G772C	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	28	2632	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	772			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.2314G>T	CCDS778.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.9|24.9	4.584225|4.584225	0.86748|0.86748	.|.	.|.	ENSG00000060718|ENSG00000060718	ENST00000370090|ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	.|D;D;D;D	.|0.99637	.|-6.29;-6.29;-6.29;-6.29	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99862|0.99862	0.9935|0.9935	H|H	0.98333|0.98333	4.205|4.205	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0	D|D	0.96604|0.96604	0.9447|0.9447	6|10	0.28530|0.87932	T|D	0.3|0	.|.	19.6506|19.6506	0.95805|0.95805	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|656;733;784;772	.|E9PCU0;P12107-3;P12107-2;P12107	.|.;.;.;COBA1_HUMAN	D|C	4|772;784;733;656	.|ENSP00000359114:G772C;ENSP00000351163:G784C;ENSP00000302551:G733C;ENSP00000426533:G656C	ENSP00000359108:E4D|ENSP00000302551:G733C	E|G	-|-	3|1	2|0	COL11A1|COL11A1	103234034|103234034	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.240000|7.240000	0.78192|0.78192	2.640000|2.640000	0.89533|0.89533	0.591000|0.591000	0.81541|0.81541	GAG|GGT		0.279	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		4	192	1	0	1.23904e-05	0.014758	1.32887e-05	4	192				
EPS8L3	79574	broad.mit.edu	37	1	110294756	110294756	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:110294756T>C	ENST00000361965.4	-	15	1401	c.1295A>G	c.(1294-1296)cAt>cGt	p.H432R	EPS8L3_ENST00000369805.3_Missense_Mutation_p.H433R|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Intron	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	432						cytoplasm (GO:0005737)		p.H433R(2)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CTGAGGGTCATGGTTGTGTGT	0.562																																							uc001dyr.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1294-1296)CAT>CGT		epidermal growth factor receptor pathway							150.0	164.0	159.0					1																	110294756		2203	4300	6503	SO:0001583	missense	79574					cytoplasm	protein binding	g.chr1:110294756T>C	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.1295A>G	1.37:g.110294756T>C	ENSP00000355255:p.His432Arg					EPS8L3_uc001dys.1_Intron|EPS8L3_uc001dyq.1_Missense_Mutation_p.H433R|EPS8L3_uc009wfm.1_Intron|EPS8L3_uc009wfn.1_Intron	p.H432R	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	15	1440	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	432					A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Missense_Mutation	SNP	ENST00000361965.4	37	c.1295A>G	CCDS814.1	.	.	.	.	.	.	.	.	.	.	T	11.78	1.740928	0.30865	.	.	ENSG00000198758	ENST00000369805;ENST00000361965	T;T	0.60548	0.18;0.19	5.07	2.51	0.30379	.	5.326030	0.00166	N	0.000000	T	0.39835	0.1093	L	0.60455	1.87	0.09310	N	1	B;B	0.25441	0.001;0.126	B;B	0.31686	0.001;0.134	T	0.31280	-0.9949	9	.	.	.	-1.2619	9.0678	0.36473	0.0:0.0:0.2785:0.7215	.	432;433	Q8TE67;Q8TE67-3	ES8L3_HUMAN;.	R	433;432	ENSP00000358820:H433R;ENSP00000355255:H432R	.	H	-	2	0	EPS8L3	110096279	0.001000	0.12720	0.017000	0.16124	0.805000	0.45488	0.207000	0.17395	1.915000	0.55452	0.533000	0.62120	CAT		0.562	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		123	302	0	0	0	0.01441	0	123	302				
KCNA2	3737	broad.mit.edu	37	1	111146592	111146592	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:111146592C>T	ENST00000485317.1	-	3	1486	c.813G>A	c.(811-813)ggG>ggA	p.G271G	KCNA2_ENST00000440270.1_Silent_p.G271G|KCNA2_ENST00000525120.1_5'Flank|KCNA2_ENST00000316361.4_Silent_p.G271G|KCNA2_ENST00000369770.3_Silent_p.G271G			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	271					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.G271G(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)	CCAACTCTGTCCCCAGGGTGA	0.532																																					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.(811-813)GGG>GGA		potassium voltage-gated channel, shaker-related							96.0	97.0	97.0					1																	111146592		2203	4300	6503	SO:0001819	synonymous_variant	3737					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111146592C>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.813G>A	1.37:g.111146592C>T						KCNA2_uc009wfv.1_Silent_p.G271G|KCNA2_uc009wfw.2_Silent_p.G271G	p.G271G	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	1309	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	271			Helical; Name=Segment S3; (Potential).		Q86XG6	Silent	SNP	ENST00000485317.1	37	c.813G>A	CCDS827.1																																																																																				0.532	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974		43	185	0	0	0	0.010771	0	43	185				
KCNA2	3737	broad.mit.edu	37	1	111147346	111147346	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:111147346T>C	ENST00000485317.1	-	3	732	c.59A>G	c.(58-60)cAg>cGg	p.Q20R	KCNA2_ENST00000440270.1_Missense_Mutation_p.Q20R|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000316361.4_Missense_Mutation_p.Q20R|KCNA2_ENST00000369770.3_Missense_Mutation_p.Q20R			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	20					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.Q20R(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)	ATAGGTGTCCTGTGGGTGCCC	0.587																																					Pancreas(18;568 735 10587 23710 36357)	Pancreas(18;568 735 10587 23710 36357)	uc001dzu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(58-60)CAG>CGG		potassium voltage-gated channel, shaker-related							107.0	110.0	109.0					1																	111147346		2203	4300	6503	SO:0001583	missense	3737					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111147346T>C	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.59A>G	1.37:g.111147346T>C	ENSP00000433109:p.Gln20Arg					KCNA2_uc009wfv.1_Missense_Mutation_p.Q20R|KCNA2_uc009wfw.2_Missense_Mutation_p.Q20R	p.Q20R	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	555	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	20					Q86XG6	Missense_Mutation	SNP	ENST00000485317.1	37	c.59A>G	CCDS827.1	.	.	.	.	.	.	.	.	.	.	T	11.85	1.760566	0.31137	.	.	ENSG00000177301	ENST00000369770;ENST00000485317;ENST00000440270;ENST00000316361	T;D;D;D	0.96365	-1.31;-3.99;-3.99;-3.99	5.75	5.75	0.90469	.	0.131649	0.53938	D	0.000043	D	0.90783	0.7106	L	0.53249	1.67	0.80722	D	1	B;B	0.33512	0.415;0.177	B;B	0.31495	0.131;0.075	D	0.90863	0.4740	10	0.10377	T	0.69	.	16.0707	0.80928	0.0:0.0:0.0:1.0	.	20;20	Q86XG6;P16389	.;KCNA2_HUMAN	R	20	ENSP00000358785:Q20R;ENSP00000433109:Q20R;ENSP00000415257:Q20R;ENSP00000314520:Q20R	ENSP00000314520:Q20R	Q	-	2	0	KCNA2	110948869	1.000000	0.71417	0.996000	0.52242	0.898000	0.52572	6.148000	0.71788	2.194000	0.70268	0.533000	0.62120	CAG		0.587	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974		108	243	0	0	0	0.01441	0	108	243				
LRIF1	55791	broad.mit.edu	37	1	111494316	111494316	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:111494316T>C	ENST00000369763.4	-	2	1580	c.1190A>G	c.(1189-1191)cAg>cGg	p.Q397R	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Intron|LRIF1_ENST00000485275.2_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	397					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)		p.Q397R(2)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						ACTCACTGTCTGTAACGTGTC	0.393																																							uc001eaa.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1189-1191)CAG>CGG		receptor-interacting factor 1 isoform 1							188.0	194.0	192.0					1																	111494316		2203	4300	6503	SO:0001583	missense	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111494316T>C	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.1190A>G	1.37:g.111494316T>C	ENSP00000358778:p.Gln397Arg					C1orf103_uc001dzz.2_Intron|C1orf103_uc001eab.2_Intron|C1orf103_uc001eac.1_Intron	p.Q397R	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)	2	1446	-		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)	397					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	ENST00000369763.4	37	c.1190A>G	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	T	8.584	0.883067	0.17467	.	.	ENSG00000121931	ENST00000369763	T	0.35236	1.32	5.61	3.24	0.37175	.	0.207319	0.34314	N	0.004062	T	0.10723	0.0262	L	0.27053	0.805	0.80722	D	1	B	0.14438	0.01	B	0.15052	0.012	T	0.06075	-1.0847	10	0.48119	T	0.1	0.899	7.3903	0.26905	0.0:0.1742:0.0:0.8258	.	397	Q5T3J3	LRIF1_HUMAN	R	397	ENSP00000358778:Q397R	ENSP00000358778:Q397R	Q	-	2	0	LRIF1	111295839	1.000000	0.71417	0.978000	0.43139	0.903000	0.53119	2.654000	0.46699	0.393000	0.25203	0.482000	0.46254	CAG		0.393	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		69	367	0	0	0	0.01441	0	69	367				
DDX20	11218	broad.mit.edu	37	1	112308806	112308806	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:112308806A>G	ENST00000369702.4	+	11	2380	c.1760A>G	c.(1759-1761)tAc>tGc	p.Y587C	DDX20_ENST00000475700.1_Missense_Mutation_p.Y195C	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	587					ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)	p.Y587C(2)		endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATCAGCCATACACGTTGACT	0.443																																							uc001ebs.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)|kidney(1)	2						c.(1759-1761)TAC>TGC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 20							107.0	111.0	110.0					1																	112308806		2200	4298	6498	SO:0001583	missense	11218				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding	g.chr1:112308806A>G	AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"""DEAD-boxes"""	2743	protein-coding gene	gene with protein product		606168	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"""			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.1760A>G	1.37:g.112308806A>G	ENSP00000358716:p.Tyr587Cys					DDX20_uc010owf.1_Missense_Mutation_p.Y349C|DDX20_uc001ebt.2_Missense_Mutation_p.Y195C	p.Y587C	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	11	2117	+		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)	587					B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Missense_Mutation	SNP	ENST00000369702.4	37	c.1760A>G	CCDS842.1	.	.	.	.	.	.	.	.	.	.	A	2.100	-0.406183	0.04832	.	.	ENSG00000064703	ENST00000369702;ENST00000475700	T;T	0.32023	1.47;2.01	5.69	-3.5	0.04710	.	2.375910	0.01497	N	0.017342	T	0.02267	0.0070	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.22277	-1.0221	9	.	.	.	-50.0384	2.5701	0.04792	0.2501:0.2966:0.3526:0.1007	.	195;587	E9PJ60;Q9UHI6	.;DDX20_HUMAN	C	587;195	ENSP00000358716:Y587C;ENSP00000435660:Y195C	.	Y	+	2	0	DDX20	112110329	0.000000	0.05858	0.000000	0.03702	0.234000	0.25298	-0.043000	0.12043	-0.184000	0.10567	-0.353000	0.07706	TAC		0.443	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2	NM_007204		82	161	0	0	0	0.01441	0	82	161				
ZNF697	90874	broad.mit.edu	37	1	120165639	120165639	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:120165639C>T	ENST00000421812.2	-	3	1446	c.1327G>A	c.(1327-1329)Ggg>Agg	p.G443R		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	443					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.G443R(1)|p.G34R(1)		ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		AAGCCCTTCCCGCACTCGCGG	0.667																																							uc001ehy.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1327-1329)GGG>AGG		zinc finger protein 697							16.0	19.0	18.0					1																	120165639		2185	4290	6475	SO:0001583	missense	90874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:120165639C>T	AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"""Zinc fingers, C2H2-type"""	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.1327G>A	1.37:g.120165639C>T	ENSP00000396857:p.Gly443Arg						p.G443R	NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)	3	1441	-	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)	443			C2H2-type 8.		Q96IT2	Missense_Mutation	SNP	ENST00000421812.2	37	c.1327G>A	CCDS44202.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093898	0.36952	.	.	ENSG00000143067	ENST00000421812	T	0.03524	3.9	4.98	4.04	0.47022	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.215010	0.23710	N	0.045327	T	0.11537	0.0281	M	0.84511	2.7	0.35028	D	0.758492	D	0.89917	1.0	D	0.97110	1.0	T	0.02098	-1.1214	10	0.59425	D	0.04	-23.7528	12.5319	0.56120	0.168:0.832:0.0:0.0	.	443	Q5TEC3	ZN697_HUMAN	R	443	ENSP00000396857:G443R	ENSP00000396857:G443R	G	-	1	0	ZNF697	119967162	1.000000	0.71417	0.992000	0.48379	0.017000	0.09413	3.856000	0.55964	1.182000	0.42928	0.563000	0.77884	GGG		0.667	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036349.3	XM_371286		4	10	0	0	0	0.009096	0	4	10				
FLG	2312	broad.mit.edu	37	1	152285774	152285774	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:152285774A>G	ENST00000368799.1	-	3	1623	c.1588T>C	c.(1588-1590)Tcc>Ccc	p.S530P	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	530	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCGTGGTGGGATCCCTGCCTT	0.602									Ichthyosis																														uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(1588-1590)TCC>CCC		filaggrin							367.0	362.0	364.0					1																	152285774		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285774A>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1588T>C	1.37:g.152285774A>G	ENSP00000357789:p.Ser530Pro					uc001ezv.2_5'Flank	p.S530P	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1624	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		530			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.1588T>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	10.01	1.233945	0.22626	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.03772	3.81	3.52	-1.03	0.10102	.	.	.	.	.	T	0.08268	0.0206	M	0.79805	2.47	0.09310	N	1	D	0.69078	0.997	D	0.74023	0.982	T	0.08534	-1.0717	9	0.38643	T	0.18	.	9.2309	0.37437	0.4252:0.5748:0.0:0.0	.	530	P20930	FILA_HUMAN	P	530;62	ENSP00000357789:S530P	ENSP00000357789:S530P	S	-	1	0	FLG	150552398	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.664000	0.05292	-0.275000	0.09219	-0.394000	0.06481	TCC		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		15	893	0	0	0	0.014323	0	15	893				
LCE3A	353142	broad.mit.edu	37	1	152595433	152595433	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:152595433C>G	ENST00000335674.1	-	1	146	c.147G>C	c.(145-147)ctG>ctC	p.L49L		NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	49					keratinization (GO:0031424)			p.L49L(2)		endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGGTGACTCAGGCAGCAGC	0.657																																							uc010pdt.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(145-147)CTG>CTC		late cornified envelope 3A							49.0	51.0	50.0					1																	152595433		2203	4300	6503	SO:0001819	synonymous_variant	353142				keratinization			g.chr1:152595433C>G		CCDS1017.1	1q21.3	2008-02-05			ENSG00000185962	ENSG00000185962		"""Late cornified envelopes"""	29461	protein-coding gene	gene with protein product		612613				11698679	Standard	NM_178431		Approved	LEP13	uc010pdt.2	Q5TA76	OTTHUMG00000012397	ENST00000335674.1:c.147G>C	1.37:g.152595433C>G							p.L49L	NM_178431	NP_848518	Q5TA76	LCE3A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		1	147	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		49						Silent	SNP	ENST00000335674.1	37	c.147G>C	CCDS1017.1																																																																																				0.657	LCE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034517.2	NM_178431		12	134	0	0	0	0.004007	0	12	134				
INSRR	3645	broad.mit.edu	37	1	156823768	156823768	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:156823768G>T	ENST00000368195.3	-	2	809	c.413C>A	c.(412-414)gCt>gAt	p.A138D	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	138					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A138D(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CACACGCACAGCCCCACGCAG	0.632																																							uc010pht.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20						c.(412-414)GCT>GAT		insulin receptor-related receptor precursor							59.0	52.0	55.0					1																	156823768		2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156823768G>T	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.413C>A	1.37:g.156823768G>T	ENSP00000357178:p.Ala138Asp					NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Missense_Mutation_p.A138D	p.A138D	NM_014215	NP_055030	P14616	INSRR_HUMAN			2	667	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		138					O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.413C>A	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.719651	0.89205	.	.	ENSG00000027644	ENST00000368195	T	0.28666	1.6	5.06	5.06	0.68205	EGF receptor, L domain (1);	0.141213	0.32624	N	0.005856	T	0.49626	0.1568	.	.	.	0.58432	D	0.999996	D	0.61697	0.99	D	0.74023	0.982	T	0.55673	-0.8104	9	0.87932	D	0	.	15.916	0.79517	0.0:0.0:1.0:0.0	.	138	P14616	INSRR_HUMAN	D	138	ENSP00000357178:A138D	ENSP00000357178:A138D	A	-	2	0	INSRR	155090392	1.000000	0.71417	0.939000	0.37840	0.985000	0.73830	8.011000	0.88624	2.367000	0.80283	0.557000	0.71058	GCT		0.632	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		28	45	1	0	2.44723e-14	0.004656	2.97001e-14	28	45				
OR10T2	128360	broad.mit.edu	37	1	158368853	158368853	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:158368853A>C	ENST00000334438.1	-	1	403	c.404T>G	c.(403-405)cTc>cGc	p.L135R		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L135R(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)					GTTTATGATGAGTGTGTACCT	0.463																																							uc010pih.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(403-405)CTC>CGC		olfactory receptor, family 10, subfamily T,							115.0	113.0	114.0					1																	158368853		2203	4300	6503	SO:0001583	missense	128360				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158368853A>C	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.404T>G	1.37:g.158368853A>C	ENSP00000334115:p.Leu135Arg						p.L135R	NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN			1	404	-	all_hematologic(112;0.0378)		135			Cytoplasmic (Potential).		Q6IF98	Missense_Mutation	SNP	ENST00000334438.1	37	c.404T>G	CCDS30895.1	.	.	.	.	.	.	.	.	.	.	A	11.44	1.637981	0.29157	.	.	ENSG00000186306	ENST00000334438	T	0.00561	6.59	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.426257	0.17285	N	0.179873	T	0.00356	0.0011	L	0.51853	1.615	0.09310	N	1	P	0.45715	0.865	P	0.49192	0.602	T	0.49263	-0.8958	10	0.87932	D	0	.	4.719	0.12909	0.708:0.1944:0.0975:0.0	.	135	Q8NGX3	O10T2_HUMAN	R	135	ENSP00000334115:L135R	ENSP00000334115:L135R	L	-	2	0	OR10T2	156635477	0.000000	0.05858	0.254000	0.24359	0.404000	0.30871	0.066000	0.14489	1.911000	0.55334	0.533000	0.62120	CTC		0.463	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		45	185	0	0	0	0.01441	0	45	185				
OR6N1	128372	broad.mit.edu	37	1	158735615	158735615	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:158735615G>A	ENST00000335094.2	-	1	877	c.858C>T	c.(856-858)aaC>aaT	p.N286N		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N286N(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					AGATGAAGGGGTTGAGGAAGG	0.527																																							uc010piq.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(856-858)AAC>AAT		olfactory receptor, family 6, subfamily N,							170.0	163.0	166.0					1																	158735615		2203	4300	6503	SO:0001819	synonymous_variant	128372				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158735615G>A	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.858C>T	1.37:g.158735615G>A							p.N286N	NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN			1	858	-	all_hematologic(112;0.0378)		286			Helical; Name=7; (Potential).		Q5VUU8|Q96R35	Silent	SNP	ENST00000335094.2	37	c.858C>T	CCDS30905.1																																																																																				0.527	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		86	268	0	0	0	0.01441	0	86	268				
SLAMF9	89886	broad.mit.edu	37	1	159923368	159923368	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:159923368G>T	ENST00000368093.3	-	2	238	c.122C>A	c.(121-123)cCc>cAc	p.P41H	SLAMF9_ENST00000368092.3_Missense_Mutation_p.P41H|SLAMF9_ENST00000466773.1_5'Flank	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	41	Ig-like V-type.					integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.P41H(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TATTTCCAGGGGGAGGCTGAT	0.527																																							uc001fus.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(121-123)CCC>CAC		SLAM family member 9 isoform 1							117.0	112.0	114.0					1																	159923368		2203	4300	6503	SO:0001583	missense	89886					integral to membrane		g.chr1:159923368G>T	AY034613	CCDS1191.1, CCDS53392.1	1q23.1	2013-01-11			ENSG00000162723	ENSG00000162723		"""Immunoglobulin superfamily / V-set domain containing"""	18430	protein-coding gene	gene with protein product		608589				11685473	Standard	NM_033438		Approved	CD2F-10, CD84-H1, SF2001	uc001fus.3	Q96A28	OTTHUMG00000024074	ENST00000368093.3:c.122C>A	1.37:g.159923368G>T	ENSP00000357072:p.Pro41His					SLAMF9_uc009wtd.2_Missense_Mutation_p.P41H|SLAMF9_uc001fut.2_Missense_Mutation_p.P41H	p.P41H	NM_033438	NP_254273	Q96A28	SLAF9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	239	-	all_hematologic(112;0.093)		41			Extracellular (Potential).		Q5JRQ9|Q5JRR0|Q6UWG1	Missense_Mutation	SNP	ENST00000368093.3	37	c.122C>A	CCDS1191.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575347	0.45902	.	.	ENSG00000162723	ENST00000368093;ENST00000368092	T;T	0.68025	-0.3;-0.3	5.6	3.7	0.42460	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.829788	0.11056	N	0.604477	T	0.66538	0.2799	M	0.78637	2.42	0.18873	N	0.999988	D;D	0.60160	0.984;0.987	P;P	0.59889	0.787;0.865	T	0.57974	-0.7718	9	.	.	.	-8.091	6.9031	0.24293	0.0882:0.0:0.7383:0.1735	.	41;41	Q96A28-2;Q96A28	.;SLAF9_HUMAN	H	41	ENSP00000357072:P41H;ENSP00000357071:P41H	.	P	-	2	0	SLAMF9	158189992	0.993000	0.37304	0.477000	0.27303	0.553000	0.35397	1.674000	0.37544	0.693000	0.31634	0.650000	0.86243	CCC		0.527	SLAMF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060630.1	NM_033438		69	130	1	0	2.18329e-32	0.01441	2.9717e-32	69	130				
FCRLB	127943	broad.mit.edu	37	1	161692781	161692781	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:161692781C>A	ENST00000367948.2	+	4	249	c.34C>A	c.(34-36)Cca>Aca	p.P12T	FCRLB_ENST00000392158.1_Missense_Mutation_p.P12T|FCRLB_ENST00000367946.3_Missense_Mutation_p.P12T|FCRLB_ENST00000367945.1_Intron|FCRLB_ENST00000336830.5_Missense_Mutation_p.P12T|FCRLB_ENST00000367944.3_Intron			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	12					negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)		p.P12T(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TTCTGCAGTTCCAAGCAGTGG	0.458																																							uc001gbh.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(34-36)CCA>ACA		Fc receptor-like B							115.0	108.0	111.0					1																	161692781		2203	4300	6503	SO:0001583	missense	127943					endoplasmic reticulum		g.chr1:161692781C>A	AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26431	protein-coding gene	gene with protein product		609251	"""Fc receptor-like and mucin-like 2"""	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.34C>A	1.37:g.161692781C>A	ENSP00000356925:p.Pro12Thr					FCRLB_uc009wus.2_Missense_Mutation_p.P12T|FCRLB_uc001gbj.2_Missense_Mutation_p.P12T|FCRLB_uc001gbk.2_Missense_Mutation_p.P12T|FCRLB_uc001gbl.2_Intron|FCRLB_uc001gbm.2_Intron|FCRLB_uc001gbi.2_Missense_Mutation_p.P12T|FCRLB_uc001gbn.3_5'Flank	p.P12T	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)		4	268	+	all_hematologic(112;0.0359)		12					A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Missense_Mutation	SNP	ENST00000367948.2	37	c.34C>A	CCDS30927.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.023801	0.35701	.	.	ENSG00000162746	ENST00000367948;ENST00000367946;ENST00000336830;ENST00000392158	T;T;T;T	0.01887	4.92;4.58;4.59;4.92	4.3	2.4	0.29515	.	0.704266	0.12367	N	0.475105	T	0.01558	0.0050	M	0.75884	2.315	0.22771	N	0.998752	B;B;B	0.32829	0.386;0.073;0.025	B;B;B	0.34242	0.178;0.161;0.021	T	0.37865	-0.9687	10	0.72032	D	0.01	.	9.4053	0.38457	0.0:0.8069:0.0:0.1931	.	12;12;12	Q6BAA4-2;Q6BAA4-4;Q6BAA4	.;.;FCRLB_HUMAN	T	12	ENSP00000356925:P12T;ENSP00000356923:P12T;ENSP00000338598:P12T;ENSP00000375999:P12T	ENSP00000338598:P12T	P	+	1	0	FCRLB	159959405	0.984000	0.35163	0.991000	0.47740	0.537000	0.34900	0.209000	0.17435	0.205000	0.20568	-1.134000	0.01955	CCA		0.458	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083585.1	NM_152378		45	84	1	0	8.86878e-18	0.01441	1.1125e-17	45	84				
RGS4	5999	broad.mit.edu	37	1	163043250	163043250	+	Silent	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:163043250G>C	ENST00000367909.6	+	4	556	c.216G>C	c.(214-216)ggG>ggC	p.G72G	RGS4_ENST00000421743.2_Silent_p.G169G|RGS4_ENST00000367906.3_Silent_p.G54G|RGS4_ENST00000531057.1_Silent_p.G72G|RGS4_ENST00000527809.1_Silent_p.G54G|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367908.4_Intron	NM_001113380.1|NM_005613.5	NP_001106851.1|NP_005604.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	72	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				inactivation of MAPK activity (GO:0000188)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)	p.G169G(2)|p.G72G(2)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						TCATAGGTGGGCTGGCAGCTT	0.423																																					Ovarian(76;1257 1738 3039 6086)	Ovarian(76;1257 1738 3039 6086)	uc009wuy.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(2)|central_nervous_system(1)	3						c.(214-216)GGG>GGC		regulator of G-protein signaling 4 isoform 2							121.0	113.0	116.0					1																	163043250		2203	4300	6503	SO:0001819	synonymous_variant	5999				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:163043250G>C	BC051869	CCDS1243.1, CCDS44270.1, CCDS44271.1, CCDS44272.1	1q23.3	2008-05-14	2007-08-14		ENSG00000117152	ENSG00000117152		"""Regulators of G-protein signaling"""	10000	protein-coding gene	gene with protein product		602516	"""regulator of G-protein signalling 4"", ""schizophrenia disorder 9"""	SCZD9		8602223, 8756726	Standard	NM_001102445		Approved		uc001gcl.4	P49798	OTTHUMG00000034417	ENST00000367909.6:c.216G>C	1.37:g.163043250G>C						RGS4_uc001gcl.3_Silent_p.G169G|RGS4_uc009wuz.2_Intron|RGS4_uc009wva.2_Silent_p.G54G	p.G72G	NM_005613	NP_005604	P49798	RGS4_HUMAN			4	727	+			72			RGS.		A7XA56|A7XA58|A7XA59|A7YVV7|B1APZ3	Silent	SNP	ENST00000367909.6	37	c.216G>C	CCDS1243.1																																																																																				0.423	RGS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083197.2	NM_005613		36	136	0	0	0	0.00623	0	36	136				
RGS5	8490	broad.mit.edu	37	1	163172591	163172591	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:163172591C>A	ENST00000313961.5	-	1	312	c.35G>T	c.(34-36)tGc>tTc	p.C12F	RGS5_ENST00000527988.1_5'UTR|RP11-267N12.1_ENST00000415437.1_RNA|RGS5_ENST00000534288.1_Intron|RGS5_ENST00000367903.3_Intron|RGS5_ENST00000530507.1_Missense_Mutation_p.C12F	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	12					positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.C12F(2)|p.C12Y(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			CCTTTCCAGGCATGAGTGGGG	0.448																																							uc001gcn.2		NA																	3	Substitution - Missense(3)		lung(2)|endometrium(1)		0						c.(34-36)TGC>TTC		regulator of G-protein signalling 5							93.0	84.0	87.0					1																	163172591		2203	4300	6503	SO:0001583	missense	8490				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:163172591C>A	AF030108	CCDS1244.1, CCDS55652.1, CCDS58041.1	1q23.1	2008-02-05	2007-08-14		ENSG00000143248	ENSG00000143248		"""Regulators of G-protein signaling"""	10001	protein-coding gene	gene with protein product		603276	"""regulator of G-protein signalling 5"""			9747037	Standard	NM_003617		Approved		uc021pdt.1	O15539	OTTHUMG00000034441	ENST00000313961.5:c.35G>T	1.37:g.163172591C>A	ENSP00000319308:p.Cys12Phe					RGS5_uc009wvb.2_RNA	p.C12F	NM_003617	NP_003608	O15539	RGS5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.187)		1	282	-			12					E9PMP5|Q53XA9|Q599J0	Missense_Mutation	SNP	ENST00000313961.5	37	c.35G>T	CCDS1244.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.350833	0.41599	.	.	ENSG00000143248	ENST00000313961;ENST00000530507;ENST00000531476	T;T;T	0.58060	0.39;0.36;4.42	4.38	4.38	0.52667	.	.	.	.	.	T	0.45796	0.1360	M	0.87180	2.865	0.36876	D	0.889142	B	0.12630	0.006	B	0.12837	0.008	T	0.58896	-0.7555	8	0.87932	D	0	.	12.3154	0.54953	0.0:1.0:0.0:0.0	.	12	O15539	RGS5_HUMAN	F	12	ENSP00000319308:C12F;ENSP00000433001:C12F;ENSP00000435861:C12F	ENSP00000319308:C12F	C	-	2	0	RGS5	161439215	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.569000	0.53827	2.258000	0.74832	0.585000	0.79938	TGC		0.448	RGS5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083264.1	NM_003617		15	45	1	0	1.02788e-11	0.00499	1.21182e-11	15	45				
MAEL	84944	broad.mit.edu	37	1	166973415	166973415	+	Splice_Site	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:166973415A>G	ENST00000367872.4	+	6	767		c.e6-1		MAEL_ENST00000491055.1_Splice_Site|MAEL_ENST00000367870.2_Splice_Site|RNA5SP65_ENST00000363166.1_RNA	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer						cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)	p.?(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TATTTCCCTCAGGTGATTCTA	0.378																																							uc001gdy.1		NA																	1	Unknown(1)		lung(1)	skin(1)	1						c.e6-2		maelstrom homolog							85.0	90.0	89.0					1																	166973415		2201	4300	6501	SO:0001630	splice_region_variant	84944				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	g.chr1:166973415A>G	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.524-1A>G	1.37:g.166973415A>G						MAEL_uc001gdz.1_Splice_Site_p.S144_splice|MAEL_uc009wvf.1_Splice_Site	p.S175_splice	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN			6	595	+								B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Splice_Site	SNP	ENST00000367872.4	37	c.524_splice	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	A	16.56	3.158296	0.57368	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000447624	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4876	0.61375	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAEL	165240039	1.000000	0.71417	0.998000	0.56505	0.809000	0.45718	5.100000	0.64560	2.170000	0.68504	0.482000	0.46254	.		0.378	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858	Intron	9	177	0	0	0	0.008291	0	9	177				
XCL1	6375	broad.mit.edu	37	1	168550295	168550295	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:168550295T>C	ENST00000367818.3	+	3	347	c.182T>C	c.(181-183)aTt>aCt	p.I61T		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	61					cell-cell signaling (GO:0007267)|cellular response to interleukin-4 (GO:0071353)|cellular response to transforming growth factor beta stimulus (GO:0071560)|immune response (GO:0006955)|mature natural killer cell chemotaxis (GO:0035782)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T-helper 1 cell activation (GO:2000518)|negative regulation of T-helper 1 type immune response (GO:0002826)|negative regulation of transcription, DNA-templated (GO:0045892)|neutrophil chemotaxis (GO:0030593)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000566)|positive regulation of granzyme A production (GO:2000513)|positive regulation of granzyme B production (GO:0071663)|positive regulation of immunoglobulin production in mucosal tissue (GO:2000558)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 cell cytokine production (GO:2000556)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of thymocyte migration (GO:2000412)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of inflammatory response (GO:0050727)|release of sequestered calcium ion into cytosol (GO:0051209)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|protein homodimerization activity (GO:0042803)	p.I61T(2)		kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					TACAGTTTTATTACCAAACGT	0.468																																							uc001gfo.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(181-183)ATT>ACT		chemokine (C motif) ligand 1							131.0	131.0	131.0					1																	168550295		2203	4300	6503	SO:0001583	missense	6375				CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity	g.chr1:168550295T>C	D43768	CCDS1274.1	1q24.2	2014-01-30	2002-08-22	2002-08-23	ENSG00000143184	ENSG00000143184		"""Endogenous ligands"""	10645	protein-coding gene	gene with protein product		600250	"""small inducible cytokine subfamily C, member 1 (lymphotactin)"""	LTN, SCYC1		7602097, 7875320	Standard	NM_002995		Approved	LPTN, ATAC, SCM-1a, SCM-1, lymphotactin	uc001gfo.2	P47992	OTTHUMG00000034548	ENST00000367818.3:c.182T>C	1.37:g.168550295T>C	ENSP00000356792:p.Ile61Thr						p.I61T	NM_002995	NP_002986	P47992	XCL1_HUMAN			3	202	+	all_hematologic(923;0.208)		61					Q52MA8	Missense_Mutation	SNP	ENST00000367818.3	37	c.182T>C	CCDS1274.1	.	.	.	.	.	.	.	.	.	.	T	12.66	2.003649	0.35320	.	.	ENSG00000143184	ENST00000367818	T	0.03889	3.77	4.83	3.66	0.41972	Chemokine interleukin-8-like domain (3);	0.486110	0.20639	N	0.088425	T	0.02304	0.0071	L	0.39147	1.195	0.31748	N	0.6349020000000001	P	0.42078	0.77	P	0.46144	0.505	T	0.52003	-0.8633	9	0.25106	T	0.35	-5.791	7.6662	0.28432	0.188:0.0:0.0:0.812	.	61	P47992	XCL1_HUMAN	T	61	ENSP00000356792:I61T	ENSP00000356792:I61T	I	+	2	0	XCL1	166816919	0.502000	0.26107	0.794000	0.32065	0.923000	0.55619	3.268000	0.51585	0.924000	0.37069	0.533000	0.62120	ATT		0.468	XCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083612.1	NM_002995		30	46	0	0	0	0.008361	0	30	46				
METTL18	92342	broad.mit.edu	37	1	169761944	169761944	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:169761944T>C	ENST00000310392.4	-	2	1246	c.893A>G	c.(892-894)aAc>aGc	p.N298S	C1orf112_ENST00000456684.1_5'Flank|C1orf112_ENST00000286031.6_5'Flank|C1orf112_ENST00000498289.1_Intron|METTL18_ENST00000303469.2_Missense_Mutation_p.N298S|C1orf112_ENST00000413811.2_5'Flank|C1orf112_ENST00000359326.4_5'Flank	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	298						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)	p.N298S(2)		kidney(1)|large_intestine(3)|lung(4)	8						ATAATCTGGGTTGTAAATGGT	0.343																																							uc001ggn.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(892-894)AAC>AGC		hypothetical protein MGC9084							55.0	56.0	56.0					1																	169761944		2203	4299	6502	SO:0001583	missense	92342					cytoplasm	protein methyltransferase activity	g.chr1:169761944T>C	AL035369	CCDS1284.1	1q24.2	2013-10-11	2011-03-02	2011-03-02	ENSG00000171806	ENSG00000171806			28793	protein-coding gene	gene with protein product	"""histidine protein methyltransferase 1"""	615255	"""chromosome 1 open reading frame 156"""	C1orf156		20864530	Standard	NM_033418		Approved	MGC9084, AsTP2, HPM1	uc001ggn.4	O95568	OTTHUMG00000035813	ENST00000310392.4:c.893A>G	1.37:g.169761944T>C	ENSP00000307975:p.Asn298Ser					C1orf112_uc001ggj.2_Intron|C1orf112_uc001ggo.2_5'Flank|uc010plt.1_5'Flank|C1orf112_uc001ggp.2_5'Flank|C1orf112_uc001ggq.2_5'Flank	p.N298S	NM_033418	NP_219486	O95568	MET18_HUMAN			2	1171	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		298					B2R9T5	Missense_Mutation	SNP	ENST00000310392.4	37	c.893A>G	CCDS1284.1	.	.	.	.	.	.	.	.	.	.	T	19.05	3.752274	0.69533	.	.	ENSG00000171806	ENST00000310392;ENST00000303469	T;T	0.06933	3.24;3.24	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.07638	0.0192	N	0.21194	0.64	0.80722	D	1	P	0.50943	0.94	D	0.64687	0.928	T	0.45600	-0.9250	10	0.11182	T	0.66	-11.4492	15.6463	0.77055	0.0:0.0:0.0:1.0	.	298	O95568	MET18_HUMAN	S	298	ENSP00000307975:N298S;ENSP00000307077:N298S	ENSP00000307077:N298S	N	-	2	0	METTL18	168028568	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	7.698000	0.84413	2.371000	0.80710	0.533000	0.62120	AAC		0.343	METTL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087109.1	NM_033418		12	55	0	0	0	0.013537	0	12	55				
TNN	63923	broad.mit.edu	37	1	175063368	175063368	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:175063368G>A	ENST00000239462.4	+	7	1680	c.1567G>A	c.(1567-1569)Gct>Act	p.A523T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	523	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.A523T(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GAGCAAGAAAGCTGACACCAA	0.532																																							uc001gkl.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(1567-1569)GCT>ACT		tenascin N precursor							87.0	71.0	77.0					1																	175063368		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175063368G>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.1567G>A	1.37:g.175063368G>A	ENSP00000239462:p.Ala523Thr					TNN_uc010pmx.1_Missense_Mutation_p.A523T	p.A523T	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	7	1680	+		Breast(1374;0.000962)	523			Fibronectin type-III 3.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.1567G>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.536492	0.27475	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.54479	0.57	5.12	5.12	0.69794	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.380726	0.22553	N	0.058563	T	0.49287	0.1548	M	0.65320	2	0.22787	N	0.998736	B;B	0.30511	0.282;0.148	B;B	0.33042	0.055;0.157	T	0.41161	-0.9524	10	0.25106	T	0.35	.	10.9314	0.47220	0.0875:0.0:0.9125:0.0	.	523;523	B3KXB6;Q9UQP3	.;TENN_HUMAN	T	523	ENSP00000239462:A523T	ENSP00000239462:A523T	A	+	1	0	TNN	173329991	0.997000	0.39634	0.671000	0.29857	0.794000	0.44872	2.913000	0.48790	2.377000	0.81083	0.563000	0.77884	GCT		0.532	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		16	111	0	0	0	0.004007	0	16	111				
TNR	7143	broad.mit.edu	37	1	175331897	175331897	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:175331897G>C	ENST00000367674.2	-	14	3464	c.2756C>G	c.(2755-2757)aCc>aGc	p.T919S	TNR_ENST00000263525.2_Missense_Mutation_p.T919S			Q92752	TENR_HUMAN	tenascin R	919	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.T919S(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCTGGTGATGGTGAATTCTGT	0.517																																							uc001gkp.1		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(2755-2757)ACC>AGC		tenascin R precursor							227.0	198.0	208.0					1																	175331897		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175331897G>C	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2756C>G	1.37:g.175331897G>C	ENSP00000356646:p.Thr919Ser					TNR_uc009wwu.1_Missense_Mutation_p.T919S	p.T919S	NM_003285	NP_003276	Q92752	TENR_HUMAN			12	2837	-	Renal(580;0.146)		919			Fibronectin type-III 7.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.2756C>G	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088058	0.36855	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.60920	0.15;0.15	5.79	4.87	0.63330	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.161369	0.53938	D	0.000043	T	0.61464	0.2349	M	0.73430	2.235	0.40844	D	0.983695	B	0.27559	0.181	B	0.38985	0.287	T	0.58160	-0.7685	10	0.25106	T	0.35	.	11.195	0.48707	0.1381:0.0:0.8619:0.0	.	919	Q92752	TENR_HUMAN	S	919;919;829	ENSP00000356646:T919S;ENSP00000263525:T919S	ENSP00000263525:T919S	T	-	2	0	TNR	173598520	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.268000	0.51585	2.731000	0.93534	0.650000	0.86243	ACC		0.517	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		45	153	0	0	0	0.01441	0	45	153				
PAPPA2	60676	broad.mit.edu	37	1	176564340	176564340	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:176564340G>T	ENST00000367662.3	+	3	2764	c.1600G>T	c.(1600-1602)Gat>Tat	p.D534Y	PAPPA2_ENST00000367661.3_Missense_Mutation_p.D534Y	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	534	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D534Y(4)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAACATCTGTGATGATGAGGG	0.527																																							uc001gkz.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(1600-1602)GAT>TAT		pappalysin 2 isoform 1							55.0	57.0	56.0					1																	176564340		2108	4229	6337	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564340G>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1600G>T	1.37:g.176564340G>T	ENSP00000356634:p.Asp534Tyr					PAPPA2_uc001gky.1_Missense_Mutation_p.D534Y|PAPPA2_uc009www.2_RNA	p.D534Y	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			3	2764	+			534			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1600G>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.244105	0.22796	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.54675	0.56;0.56	5.24	4.33	0.51752	.	0.295223	0.36703	N	0.002451	T	0.72407	0.3456	M	0.80982	2.52	0.38101	D	0.937278	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.942	T	0.79310	-0.1856	10	0.87932	D	0	-15.2512	13.7367	0.62821	0.0749:0.0:0.9251:0.0	.	534;534	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	Y	534	ENSP00000356634:D534Y;ENSP00000356633:D534Y	ENSP00000356633:D534Y	D	+	1	0	PAPPA2	174830963	0.999000	0.42202	0.014000	0.15608	0.005000	0.04900	2.944000	0.49034	1.206000	0.43276	0.650000	0.86243	GAT		0.527	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			53	79	1	0	1.21353e-23	0.01441	1.59633e-23	53	79				
CACNA1E	777	broad.mit.edu	37	1	181548245	181548245	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:181548245G>T	ENST00000367573.2	+	5	654	c.654G>T	c.(652-654)atG>atT	p.M218I	CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000358338.5_Missense_Mutation_p.M169I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.M218I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.M218I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.M169I|CACNA1E_ENST00000526775.1_Missense_Mutation_p.M218I	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	218					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.M218I(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGAAGGCCATGGTACCTCTTC	0.488																																							uc001gow.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(652-654)ATG>ATT		calcium channel, voltage-dependent, R type,							290.0	278.0	282.0					1																	181548245		2043	4206	6249	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181548245G>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.654G>T	1.37:g.181548245G>T	ENSP00000356545:p.Met218Ile					CACNA1E_uc009wxr.2_Missense_Mutation_p.M125I|CACNA1E_uc009wxs.2_Missense_Mutation_p.M125I	p.M218I	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			5	819	+			218			Cytoplasmic (Potential).|I.		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.654G>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059957	0.76074	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98313	-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.98378	0.9461	L	0.50993	1.605	0.80722	D	1	P;P	0.48294	0.908;0.908	D;D	0.64144	0.922;0.922	D	0.99889	1.1130	10	0.87932	D	0	.	17.9936	0.89176	0.0:0.0:1.0:0.0	.	218;218	Q15878-2;Q15878-3	.;.	I	218;218;218;169;169;218;218	ENSP00000432038:M218I;ENSP00000356542:M218I;ENSP00000434814:M218I;ENSP00000350183:M169I;ENSP00000351101:M169I;ENSP00000353222:M218I;ENSP00000356545:M218I	ENSP00000350183:M169I	M	+	3	0	CACNA1E	179814868	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.675000	0.98638	2.409000	0.81822	0.561000	0.74099	ATG		0.488	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		9	162	1	0	0.000442599	0.006214	0.000462664	9	162				
LAMC2	3918	broad.mit.edu	37	1	183189974	183189974	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:183189974A>T	ENST00000264144.4	+	5	583	c.518A>T	c.(517-519)tAc>tTc	p.Y173F	LAMC2_ENST00000493293.1_Missense_Mutation_p.Y173F	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	173	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)	p.Y173F(2)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CGATCAGGTTACTATAATCTG	0.443																																							uc001gqa.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(517-519)TAC>TTC		laminin, gamma 2 isoform a precursor							51.0	52.0	52.0					1																	183189974		2203	4300	6503	SO:0001583	missense	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183189974A>T	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.518A>T	1.37:g.183189974A>T	ENSP00000264144:p.Tyr173Phe					LAMC2_uc001gpz.3_Missense_Mutation_p.Y173F|LAMC2_uc010poa.1_5'UTR	p.Y173F	NM_005562	NP_005553	Q13753	LAMC2_HUMAN			5	832	+			173			Laminin EGF-like 3.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	c.518A>T	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	A	0.416	-0.910721	0.02434	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.67171	-0.25;-0.25	5.41	5.41	0.78517	EGF-like, laminin (4);Growth factor, receptor (1);	0.188390	0.37178	N	0.002213	T	0.48259	0.1490	N	0.16233	0.39	0.40995	D	0.984886	B;B	0.31227	0.314;0.137	B;B	0.35510	0.204;0.111	T	0.46062	-0.9218	10	0.07644	T	0.81	.	11.2813	0.49197	0.8555:0.0:0.0:0.1445	.	173;173	Q13753;Q13753-2	LAMC2_HUMAN;.	F	173	ENSP00000432063:Y173F;ENSP00000264144:Y173F	ENSP00000264144:Y173F	Y	+	2	0	LAMC2	181456597	1.000000	0.71417	0.993000	0.49108	0.076000	0.17211	2.334000	0.43920	2.047000	0.60756	0.533000	0.62120	TAC		0.443	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		47	81	0	0	0	0.01441	0	47	81				
RGL1	23179	broad.mit.edu	37	1	183885633	183885633	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:183885633C>T	ENST00000360851.3	+	16	1980	c.1802C>T	c.(1801-1803)tCc>tTc	p.S601F	RGL1_ENST00000536277.1_Missense_Mutation_p.S599F|RGL1_ENST00000539189.1_Missense_Mutation_p.S572F|RGL1_ENST00000304685.4_Missense_Mutation_p.S636F			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	601	Ser-rich.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.S636F(2)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GACACAAATTCCTCAGGGATG	0.507																																							uc001gqo.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(5)|ovary(4)|lung(2)	11						c.(1801-1803)TCC>TTC		ral guanine nucleotide dissociation							185.0	182.0	183.0					1																	183885633		2203	4300	6503	SO:0001583	missense	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183885633C>T	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.1802C>T	1.37:g.183885633C>T	ENSP00000354097:p.Ser601Phe					RGL1_uc001gqm.2_Missense_Mutation_p.S636F|RGL1_uc010pog.1_Missense_Mutation_p.S599F|RGL1_uc010poh.1_Missense_Mutation_p.S599F|RGL1_uc010poi.1_Missense_Mutation_p.S572F	p.S601F	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN			16	1959	+			601			Ser-rich.		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37	c.1802C>T		.	.	.	.	.	.	.	.	.	.	C	22.0	4.232127	0.79688	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.54071	0.61;0.61;0.64;0.63;0.59	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.67906	0.2943	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.998;0.998	D;D;D;D	0.83275	0.996;0.994;0.99;0.994	T	0.71224	-0.4656	10	0.87932	D	0	.	18.0188	0.89249	0.0:1.0:0.0:0.0	.	572;599;601;636	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	F	636;636;599;601;572	ENSP00000303192:S636F;ENSP00000356501:S636F;ENSP00000438662:S599F;ENSP00000354097:S601F;ENSP00000437355:S572F	ENSP00000303192:S636F	S	+	2	0	RGL1	182152256	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.128000	0.77217	2.345000	0.79718	0.650000	0.86243	TCC		0.507	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		61	209	0	0	0	0.01441	0	61	209				
RGS1	5996	broad.mit.edu	37	1	192547444	192547445	+	Missense_Mutation	DNP	GA	GA	AG			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	GA	GA	-	-	GA	GA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:192547444_192547445GA>AG	ENST00000367459.3	+	4	439_440	c.373_374GA>AG	c.(373-375)GAg>AGg	p.E125R	RGS1_ENST00000469578.2_Missense_Mutation_p.E125R	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	125	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|immune response (GO:0006955)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)	p.E125R(1)|p.E125K(1)|p.E112R(1)|p.E112K(1)		kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				TAAGAAAACAGAGTCTGATCTT	0.366																																							uc001gsi.1		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(373-375)GAG>AGG		regulator of G-protein signalling 1																																				SO:0001583	missense	5996				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:192547444_192547445GA>AG	AF493925	CCDS1375.2	1q31	2008-02-05	2007-08-14		ENSG00000090104	ENSG00000090104		"""Regulators of G-protein signaling"""	9991	protein-coding gene	gene with protein product		600323	"""regulator of G-protein signalling 1"""	IER1		8241276, 8602223	Standard	NM_002922		Approved	1R20, IR20, BL34	uc001gsi.1	Q08116	OTTHUMG00000035598	Exception_encountered	1.37:g.192547444_192547445delinsAG	ENSP00000356429:p.Glu125Arg					RGS1_uc010pou.1_Missense_Mutation_p.E125R	p.E125R	NM_002922	NP_002913	Q08116	RGS1_HUMAN			4	439_440	+		Breast(1374;0.188)	125			RGS.		B2RDM9|B4DZY0|Q07918|Q9H1W2	Missense_Mutation	DNP	ENST00000367459.3	37	c.373_374GA>AG	CCDS1375.2																																																																																				0.366	RGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086391.1	NM_002922		62	198	0	0	0	0.004672	0	62	198				
CFHR5	81494	broad.mit.edu	37	1	196971714	196971714	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:196971714G>T	ENST00000256785.4	+	8	1359	c.1250G>T	c.(1249-1251)tGt>tTt	p.C417F	CFHR5_ENST00000367414.5_Missense_Mutation_p.C441F			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	417	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)		p.C417F(2)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GCTGTTCTCTGTAAAGAAAAC	0.388																																							uc001gts.3		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)|skin(1)	2						c.(1249-1251)TGT>TTT		complement factor H-related 5 precursor							80.0	84.0	82.0					1																	196971714		2203	4300	6503	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196971714G>T	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1250G>T	1.37:g.196971714G>T	ENSP00000256785:p.Cys417Phe						p.C417F	NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN			8	1378	+			417			Sushi 7.		Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.1250G>T	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269649	0.40095	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	D;D	0.99784	-6.74;-6.74	3.76	3.76	0.43208	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.99859	0.9934	H	0.98133	4.155	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98545	1.0634	9	0.87932	D	0	.	11.4257	0.50009	0.0:0.0:1.0:0.0	.	417	Q9BXR6	FHR5_HUMAN	F	441;417	ENSP00000356384:C441F;ENSP00000256785:C417F	ENSP00000256785:C417F	C	+	2	0	CFHR5	195238337	0.896000	0.30565	0.006000	0.13384	0.001000	0.01503	3.096000	0.50243	1.805000	0.52779	0.467000	0.42956	TGT		0.388	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		19	58	1	0	7.21436e-19	0.008871	9.18192e-19	19	58				
PRELP	5549	broad.mit.edu	37	1	203452913	203452913	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:203452913G>T	ENST00000343110.2	+	2	728	c.601G>T	c.(601-603)Gat>Tat	p.D201Y		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	201	Poly-Leu.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.D201Y(3)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			GCTGCTCCTGGATCTCCAGCA	0.607																																							uc001gzs.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(601-603)GAT>TAT		proline arginine-rich end leucine-rich repeat							92.0	96.0	95.0					1																	203452913		2203	4300	6503	SO:0001583	missense	5549				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr1:203452913G>T	BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	9357	protein-coding gene	gene with protein product	"""prolargin proteoglycan"""	601914	"""proline arginine-rich end leucine-rich repeat protein"""				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.601G>T	1.37:g.203452913G>T	ENSP00000343924:p.Asp201Tyr					PRELP_uc001gzt.2_Missense_Mutation_p.D201Y	p.D201Y	NM_002725	NP_002716	P51888	PRELP_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		2	801	+			201			Poly-Leu.|LRR 5.		Q6FG38	Missense_Mutation	SNP	ENST00000343110.2	37	c.601G>T	CCDS1438.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219728	0.58560	.	.	ENSG00000188783	ENST00000343110	T	0.60424	0.19	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.59074	0.2167	N	0.25144	0.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52888	-0.8515	10	0.02654	T	1	-13.8327	16.3701	0.83353	0.0:0.0:1.0:0.0	.	201	P51888	PRELP_HUMAN	Y	201	ENSP00000343924:D201Y	ENSP00000343924:D201Y	D	+	1	0	PRELP	201719536	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.017000	0.88712	2.214000	0.71695	0.462000	0.41574	GAT		0.607	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725		31	313	1	0	1.30897e-18	0.009535	1.66326e-18	31	313				
SLC45A3	85414	broad.mit.edu	37	1	205631992	205631992	+	Silent	SNP	C	C	G	rs540962762		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:205631992C>G	ENST00000367145.3	-	3	1222	c.927G>C	c.(925-927)ccG>ccC	p.P309P	SLC45A3_ENST00000460934.1_5'Flank	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	309					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.P309P(2)	SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CCTCGGTGCCCGGCTCAGCTC	0.632			T	"""ETV1, ETV5, ELK4, ERG"""	prostate																																		uc001hda.1		NA		Dom	yes		1	1q32	85414	T	"""solute carrier family 45, member 3"""			E	ETV1|ETV5|ELK4|ERG		prostate 	SLC45A3/BRAF(2)	2	Substitution - coding silent(2)	p.P309L(1)	lung(2)	ovary(2)|prostate(2)	4						c.(925-927)CCG>CCC		prostein							39.0	42.0	41.0					1																	205631992		2203	4300	6503	SO:0001819	synonymous_variant	85414				transmembrane transport	integral to membrane		g.chr1:205631992C>G	AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"""Solute carriers"""	8642	protein-coding gene	gene with protein product		605097	"""prostate cancer associated protein 6"", ""prostate cancer associated protein 2"", ""prostate cancer associated protein 8"""	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.927G>C	1.37:g.205631992C>G						SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_Silent_p.P143P|SLC45A3_uc010prp.1_Intron|ELK4_uc010prq.1_Intron	p.P309P	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		3	1266	-	Breast(84;0.07)		309					A8K2U9	Silent	SNP	ENST00000367145.3	37	c.927G>C	CCDS1458.1																																																																																				0.632	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1	NM_033102		27	91	0	0	0	0.005443	0	27	91				
PIGR	5284	broad.mit.edu	37	1	207112588	207112588	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:207112588C>A	ENST00000356495.4	-	3	447	c.264G>T	c.(262-264)ccG>ccT	p.P88P		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	88	Ig-like V-type 1.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)	p.P88P(1)		central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGCCGTTCTCCGGGAAGTTGG	0.592																																							uc001hez.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(262-264)CCG>CCT		polymeric immunoglobulin receptor precursor							104.0	80.0	88.0					1																	207112588		2203	4300	6503	SO:0001819	synonymous_variant	5284					extracellular region|integral to plasma membrane	protein binding	g.chr1:207112588C>A		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.264G>T	1.37:g.207112588C>A						PIGR_uc009xbz.2_Silent_p.P88P	p.P88P	NM_002644	NP_002635	P01833	PIGR_HUMAN			3	448	-			88			Ig-like V-type 1.|Extracellular (Potential).		Q68D81|Q8IZY7	Silent	SNP	ENST00000356495.4	37	c.264G>T	CCDS1474.1																																																																																				0.592	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644		16	91	1	0	1.3612e-06	0.003163	1.4884e-06	16	91				
CR1L	1379	broad.mit.edu	37	1	207867885	207867885	+	Nonsense_Mutation	SNP	G	G	A	rs376402202		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:207867885G>A	ENST00000508064.2	+	5	711	c.651G>A	c.(649-651)tgG>tgA	p.W217*	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	217	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)		p.W217*(2)|p.W225*(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGGGCATCTGGAGTGGCCCAG	0.463																																							uc001hga.3		NA																	4	Substitution - Nonsense(4)		lung(4)		0						c.(649-651)TGG>TGA		complement component (3b/4b) receptor 1-like							221.0	208.0	212.0					1																	207867885		1917	4137	6054	SO:0001587	stop_gained	1379					cytoplasm|extracellular region|membrane		g.chr1:207867885G>A	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.651G>A	1.37:g.207867885G>A	ENSP00000421736:p.Trp217*					CR1L_uc001hfz.2_RNA|CR1L_uc001hgb.1_RNA	p.W217*	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN			5	772	+			217			Sushi 3.		Q32MC9|Q8NEU7	Nonsense_Mutation	SNP	ENST00000508064.2	37	c.651G>A	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.057568	0.55325	.	.	ENSG00000197721	ENST00000444269;ENST00000508064	.	.	.	2.38	2.38	0.29361	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.284	0.31917	0.0:0.0:1.0:0.0	.	.	.	.	X	217	.	ENSP00000434864:W161X	W	+	3	0	CR1L	205934508	1.000000	0.71417	0.939000	0.37840	0.168000	0.22595	4.315000	0.59172	1.328000	0.45358	0.298000	0.19748	TGG		0.463	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		67	411	0	0	0	0.01441	0	67	411				
RPS6KC1	26750	broad.mit.edu	37	1	213445953	213445953	+	Silent	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:213445953G>C	ENST00000366960.3	+	15	3327	c.3177G>C	c.(3175-3177)gtG>gtC	p.V1059V	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Silent_p.V847V|RPS6KC1_ENST00000366959.3_Silent_p.V1047V	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	1059					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)	p.V1059V(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TTACCCCTGTGGATTGGGCAG	0.458																																							uc010ptr.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(3)|breast(1)	8						c.(3175-3177)GTG>GTC		ribosomal protein S6 kinase, 52kDa, polypeptide							198.0	178.0	185.0					1																	213445953		2203	4300	6503	SO:0001819	synonymous_variant	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213445953G>C	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.3177G>C	1.37:g.213445953G>C						RPS6KC1_uc001hkd.2_Silent_p.V1047V|RPS6KC1_uc010pts.1_Silent_p.V847V|RPS6KC1_uc010ptt.1_Silent_p.V847V|RPS6KC1_uc010ptu.1_Silent_p.V878V|RPS6KC1_uc010ptv.1_Silent_p.V594V|RPS6KC1_uc001hke.2_Silent_p.V878V	p.V1059V	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	15	3336	+			1059					B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Silent	SNP	ENST00000366960.3	37	c.3177G>C	CCDS1513.1																																																																																				0.458	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		9	126	0	0	0	0.006214	0	9	126				
DISP1	84976	broad.mit.edu	37	1	223178410	223178410	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:223178410C>G	ENST00000284476.6	+	8	3835	c.3671C>G	c.(3670-3672)gCa>gGa	p.A1224G		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1224					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.A1224G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AACAGCCAAGCAAAGAATTTA	0.473																																							uc001hnu.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(3670-3672)GCA>GGA		dispatched A							68.0	71.0	70.0					1																	223178410		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223178410C>G	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.3671C>G	1.37:g.223178410C>G	ENSP00000284476:p.Ala1224Gly						p.A1224G	NM_032890	NP_116279	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	3818	+			1224					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.3671C>G	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298844	0.60195	.	.	ENSG00000154309	ENST00000284476	D	0.92348	-3.02	5.75	2.9	0.33743	.	0.617267	0.16587	N	0.207929	D	0.87261	0.6133	L	0.32530	0.975	0.09310	N	1	P	0.41420	0.749	B	0.43575	0.424	T	0.78036	-0.2361	10	0.39692	T	0.17	-5.107	7.9858	0.30212	0.0:0.6933:0.0:0.3067	.	1224	Q96F81	DISP1_HUMAN	G	1224	ENSP00000284476:A1224G	ENSP00000284476:A1224G	A	+	2	0	DISP1	221245033	0.000000	0.05858	0.002000	0.10522	0.966000	0.64601	0.476000	0.22180	0.794000	0.33899	0.561000	0.74099	GCA		0.473	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		42	115	0	0	0	0.00623	0	42	115				
LIN9	286826	broad.mit.edu	37	1	226426782	226426782	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:226426782G>A	ENST00000328205.5	-	12	1728	c.1183C>T	c.(1183-1185)Ccc>Tcc	p.P395S	LIN9_ENST00000481685.1_Missense_Mutation_p.P360S|LIN9_ENST00000366801.1_Missense_Mutation_p.P344S	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	379					DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)		p.P395S(2)		breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		ATGCTGATGGGCATGGAATAT	0.343																																					Ovarian(197;1696 2974 11248 14117)	Ovarian(197;1696 2974 11248 14117)	uc001hqa.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1183-1185)CCC>TCC		lin-9 homolog							90.0	87.0	88.0					1																	226426782		2203	4300	6503	SO:0001583	missense	286826				cell cycle|DNA replication	nucleoplasm		g.chr1:226426782G>A	AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"""TUDOR gene similar"", ""rb related pathway actor"""	609375	"""lin-9 homolog (C. elegans)"""			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.1183C>T	1.37:g.226426782G>A	ENSP00000329102:p.Pro395Ser					LIN9_uc001hqb.2_Missense_Mutation_p.P360S|LIN9_uc001hqc.2_Missense_Mutation_p.P327S|LIN9_uc009xel.1_Missense_Mutation_p.P360S	p.P395S	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN		GBM - Glioblastoma multiforme(131;0.131)	12	1493	-	Breast(184;0.158)		379			Potential.		Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	ENST00000328205.5	37	c.1183C>T	CCDS1553.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.898384	0.33535	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685	.	.	.	5.66	4.75	0.60458	.	0.051818	0.85682	D	0.000000	T	0.40886	0.1135	N	0.16602	0.42	0.58432	D	0.99999	B;B;B	0.18741	0.005;0.03;0.02	B;B;B	0.14578	0.001;0.007;0.011	T	0.18681	-1.0329	9	0.21540	T	0.41	.	14.3411	0.66627	0.0711:0.0:0.9289:0.0	.	360;379;529	C9J5J4;Q5TKA1;B1ANK3	.;LIN9_HUMAN;.	S	355;395;450;344;360	.	ENSP00000329102:P395S	P	-	1	0	LIN9	224493405	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.411000	0.66386	1.397000	0.46682	0.591000	0.81541	CCC		0.343	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091523.2	NM_173083		13	123	0	0	0	0.016723	0	13	123				
JMJD4	65094	broad.mit.edu	37	1	227920196	227920196	+	Missense_Mutation	SNP	G	G	A	rs201553155		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:227920196G>A	ENST00000366758.3	-	6	1288	c.1289C>T	c.(1288-1290)gCg>gTg	p.A430V	SNAP47_ENST00000366759.4_5'Flank|JMJD4_ENST00000485807.1_5'UTR|SNAP47_ENST00000315781.5_5'Flank|JMJD4_ENST00000438896.2_Missense_Mutation_p.A414V|SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000480897.1_3'UTR	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	430										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				GTCGGGGTGCGCAACCAAGGA	0.627																																							uc001hrb.2		NA																	0					0						c.(1288-1290)GCG>GTG		jumonji domain containing 4 isoform 1		G	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	89.0	74.0	79.0		1241,1289	-5.6	0.0	1		79	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	JMJD4	NM_001161465.1,NM_023007.2	64,64	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign,benign	414/448,430/464	227920196	4,13002	2203	4300	6503	SO:0001583	missense	65094							g.chr1:227920196G>A	AK022579	CCDS1561.1, CCDS59203.1	1q42.13	2008-02-05			ENSG00000081692	ENSG00000081692			25724	protein-coding gene	gene with protein product						12477932	Standard	NM_023007		Approved	FLJ12517	uc001hrb.3	Q9H9V9	OTTHUMG00000037698	ENST00000366758.3:c.1289C>T	1.37:g.227920196G>A	ENSP00000355720:p.Ala430Val					SNAP47_uc001hqz.2_Intron|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_5'Flank|SNAP47_uc001hre.2_5'Flank|SNAP47_uc001hrf.2_5'Flank|LOC100130093_uc001hqx.3_RNA|LOC100130093_uc001hqy.3_RNA|JMJD4_uc001hrc.2_Missense_Mutation_p.A414V	p.A430V	NM_023007	NP_075383	Q9H9V9	JMJD4_HUMAN			6	1289	-		Prostate(94;0.0885)	430					Q5TBZ1|Q5TBZ6|Q9H970	Missense_Mutation	SNP	ENST00000366758.3	37	c.1289C>T	CCDS1561.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.521|5.521	0.281069|0.281069	0.10458|0.10458	2.27E-4|2.27E-4	3.49E-4|3.49E-4	ENSG00000081692|ENSG00000081692	ENST00000366758|ENST00000438896	T|.	0.18338|.	2.22|.	4.75|4.75	-5.58|-5.58	0.02512|0.02512	.|.	1.114530|.	0.06505|.	N|.	0.737013|.	T|T	0.23210|0.23210	0.0561|0.0561	L|L	0.42245|0.42245	1.32|1.32	0.09310|0.09310	N|N	1|1	B;B|.	0.26258|.	0.145;0.089|.	B;B|.	0.14023|.	0.01;0.004|.	T|T	0.32295|0.32295	-0.9912|-0.9912	10|5	0.35671|.	T|.	0.21|.	-2.4111|-2.4111	0.4921|0.4921	0.00566|0.00566	0.3734:0.2017:0.2137:0.2112|0.3734:0.2017:0.2137:0.2112	.|.	414;430|.	Q9H9V9-2;Q9H9V9|.	.;JMJD4_HUMAN|.	V|C	430|407	ENSP00000355720:A430V|.	ENSP00000355720:A430V|.	A|R	-|-	2|1	0|0	JMJD4|JMJD4	225986819|225986819	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.212000|-0.212000	0.09319|0.09319	-0.959000|-0.959000	0.03618|0.03618	-1.555000|-1.555000	0.00892|0.00892	GCG|CGC		0.627	JMJD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091970.1	NM_023007		5	156	0	0	0	0.014758	0	5	156				
OBSCN	84033	broad.mit.edu	37	1	228509331	228509331	+	Missense_Mutation	SNP	G	G	T	rs200664730		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:228509331G>T	ENST00000422127.1	+	55	14833	c.14789G>T	c.(14788-14790)cGc>cTc	p.R4930L	OBSCN_ENST00000570156.2_Missense_Mutation_p.R5887L|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2049L|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2564L|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4930L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4930	Ig-like 48.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.R4930L(2)|p.R5512L(2)|p.R5642L(2)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTGCGAGCCCGCTGGCTGAAG	0.642																																							uc009xez.1		NA																	6	Substitution - Missense(6)		lung(6)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(14788-14790)CGC>CTC		obscurin, cytoskeletal calmodulin and							38.0	43.0	41.0					1																	228509331		2176	4271	6447	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228509331G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.14789G>T	1.37:g.228509331G>T	ENSP00000409493:p.Arg4930Leu					OBSCN_uc001hsn.2_Missense_Mutation_p.R4930L	p.R4930L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			55	14833	+		Prostate(94;0.0405)	4930			Ig-like 48.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.14789G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.455346	0.63401	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.34	2.31	0.28768	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.766175	0.11971	N	0.511816	T	0.60932	0.2307	L	0.49350	1.555	0.09310	N	0.999997	B;P	0.35551	0.264;0.509	B;B	0.40375	0.327;0.321	T	0.47548	-0.9109	10	0.22706	T	0.39	.	8.9287	0.35657	0.137:0.1222:0.7408:0.0	.	4930;4930	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	L	4930;4930;2564;2049	ENSP00000284548:R4930L;ENSP00000409493:R4930L;ENSP00000355668:R2564L;ENSP00000355670:R2049L	ENSP00000284548:R4930L	R	+	2	0	OBSCN	226575954	0.216000	0.23585	0.149000	0.22428	0.269000	0.26545	2.938000	0.48987	0.637000	0.30526	0.655000	0.94253	CGC		0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		29	37	1	0	3.65163e-15	0.00632	4.48025e-15	29	37				
AGT	183	broad.mit.edu	37	1	230845985	230845985	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:230845985C>A	ENST00000366667.4	-	2	826	c.612G>T	c.(610-612)ctG>ctT	p.L204L	RP11-99J16__A.2_ENST00000412344.1_RNA	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	204					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)	p.L204L(1)		endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CCGTGGACAGCAGCAGCTGGG	0.667																																							uc001hty.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(610-612)CTG>CTT		angiotensinogen preproprotein	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)						32.0	32.0	32.0					1																	230845985		2203	4300	6503	SO:0001819	synonymous_variant	183				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding	g.chr1:230845985C>A	K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.612G>T	1.37:g.230845985C>A						AGT_uc009xfe.2_Silent_p.L204L|AGT_uc009xff.2_Silent_p.L176L	p.L204L	NM_000029	NP_000020	P01019	ANGT_HUMAN		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	2	1120	-	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)	204					Q16358|Q16359|Q96F91	Silent	SNP	ENST00000366667.4	37	c.612G>T	CCDS1585.1																																																																																				0.667	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029		25	52	1	0	3.6726e-16	0.021523	4.53436e-16	25	52				
ACTN2	88	broad.mit.edu	37	1	236889278	236889278	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:236889278C>A	ENST00000366578.4	+	5	660	c.494C>A	c.(493-495)aCt>aAt	p.T165N	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.T165N	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	165	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.T165N(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CAGAGGAAAACTGCTCCTTAT	0.478																																							uc001hyf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(493-495)ACT>AAT		actinin, alpha 2							138.0	144.0	142.0					1																	236889278		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236889278C>A	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.494C>A	1.37:g.236889278C>A	ENSP00000355537:p.Thr165Asn					ACTN2_uc001hyg.2_Translation_Start_Site|ACTN2_uc009xgi.1_Missense_Mutation_p.T165N	p.T165N	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		5	698	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	165			CH 2.|Actin-binding.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.494C>A	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.860246	0.91433	.	.	ENSG00000077522	ENST00000542672;ENST00000366578	D;D	0.94758	-3.51;-3.51	5.68	5.68	0.88126	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98726	0.9572	H	0.99156	4.45	0.80722	D	1	D;D	0.76494	0.999;0.966	D;D	0.83275	0.996;0.996	D	0.99364	1.0918	10	0.87932	D	0	.	19.79	0.96453	0.0:1.0:0.0:0.0	.	165;165	B2RCS5;P35609	.;ACTN2_HUMAN	N	165	ENSP00000443495:T165N;ENSP00000355537:T165N	ENSP00000355537:T165N	T	+	2	0	ACTN2	234955901	1.000000	0.71417	0.537000	0.28052	0.863000	0.49368	7.790000	0.85794	2.654000	0.90174	0.655000	0.94253	ACT		0.478	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		13	322	1	0	4.3838e-07	0.016723	4.8407e-07	13	322				
RYR2	6262	broad.mit.edu	37	1	237802406	237802406	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:237802406G>A	ENST00000366574.2	+	46	7337	c.7020G>A	c.(7018-7020)ggG>ggA	p.G2340G	RYR2_ENST00000542537.1_Silent_p.G2324G|RYR2_ENST00000360064.6_Silent_p.G2338G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2340	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.G2338G(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)			GAGAAGGTGGGAATGGGCTTC	0.502																																							uc001hyl.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(7018-7020)GGG>GGA		cardiac muscle ryanodine receptor							123.0	126.0	125.0					1																	237802406		1936	4122	6058	SO:0001819	synonymous_variant	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.chr1:237802406G>A	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.7020G>A	1.37:g.237802406G>A							p.G2340G	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		46	7140	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2340			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.7020G>A	CCDS55691.1																																																																																				0.502	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		19	46	0	0	0	0.012319	0	19	46				
RYR2	6262	broad.mit.edu	37	1	237948113	237948114	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:237948113_237948114GG>TT	ENST00000366574.2	+	90	13418_13419	c.13101_13102GG>TT	c.(13099-13104)aaGGag>aaTTag	p.4367_4368KE>N*	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Nonsense_Mutation_p.4351_4352KE>N*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.4373_4374KE>N*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4367					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.K4365_E4366>N*(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)			CCGACTTAAAGGAGCTGACAGA	0.535																																							uc001hyl.1		NA																	2	Complex - compound substitution(2)		lung(2)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(13099-13104)AAGGAG>AATTAG		cardiac muscle ryanodine receptor																																				SO:0001587	stop_gained	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.chr1:237948113_237948114GG>TT	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	Exception_encountered	1.37:g.237948113_237948114delinsTT	ENSP00000355533:p.K4367_E4368delinsN*					RYR2_uc010pya.1_Nonsense_Mutation_p.782_783KE>N*	p.4367_4368KE>N*	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	13221_13222	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4367_4368					Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	DNP	ENST00000366574.2	37	c.13101_13102GG>TT	CCDS55691.1																																																																																				0.535	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		48	58	0	0	0	0.004672	0	48	58				
FMN2	56776	broad.mit.edu	37	1	240493928	240493928	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:240493928T>C	ENST00000319653.9	+	11	4693	c.4463T>C	c.(4462-4464)aTg>aCg	p.M1488T	FMN2_ENST00000545751.1_Missense_Mutation_p.M84T	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1488	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.M1631T(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCAGGGGTTATGCAGGTTCTA	0.383																																							uc010pyd.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(4462-4464)ATG>ACG		formin 2							128.0	125.0	126.0					1																	240493928		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240493928T>C	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4463T>C	1.37:g.240493928T>C	ENSP00000318884:p.Met1488Thr					FMN2_uc010pye.1_Missense_Mutation_p.M1492T|FMN2_uc010pyf.1_Missense_Mutation_p.M134T|FMN2_uc010pyg.1_Missense_Mutation_p.M84T	p.M1488T	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		11	4688	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1488			FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.4463T>C	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	T	12.01	1.810113	0.32053	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355	T;T	0.16743	2.32;2.32	5.99	3.66	0.41972	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.218669	0.40064	N	0.001187	T	0.20292	0.0488	L	0.31926	0.97	0.80722	D	1	B;B;B;P	0.44380	0.086;0.108;0.064;0.834	B;B;B;P	0.51945	0.056;0.089;0.021;0.685	T	0.01269	-1.1400	10	0.39692	T	0.17	.	8.9639	0.35865	0.0:0.0647:0.1269:0.8084	.	84;134;117;1488	B4DP05;F5H2C1;B4DN09;Q9NZ56	.;.;.;FMN2_HUMAN	T	1488;84;115	ENSP00000318884:M1488T;ENSP00000437918:M84T	ENSP00000318884:M1488T	M	+	2	0	FMN2	238560551	1.000000	0.71417	0.995000	0.50966	0.924000	0.55760	0.959000	0.29240	0.503000	0.28060	-0.316000	0.08728	ATG		0.383	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		52	84	0	0	0	0.01441	0	52	84				
EXO1	9156	broad.mit.edu	37	1	242048689	242048689	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:242048689G>T	ENST00000366548.3	+	15	2878	c.2285G>T	c.(2284-2286)aGa>aTa	p.R762I	EXO1_ENST00000348581.5_Missense_Mutation_p.R762I|EXO1_ENST00000518483.1_Missense_Mutation_p.R762I	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	762	Interaction with MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)	p.R762I(2)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GGACCTGCCAGAGCCAGTGGG	0.478								Editing and processing nucleases																															uc001hzh.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|skin(1)	5						c.(2284-2286)AGA>ATA	Direct_reversal_of_damage|Editing_and_processing_nucleases	exonuclease 1 isoform b							57.0	62.0	60.0					1																	242048689		2203	4300	6503	SO:0001583	missense	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242048689G>T	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.2285G>T	1.37:g.242048689G>T	ENSP00000355506:p.Arg762Ile					EXO1_uc001hzi.2_Missense_Mutation_p.R762I|EXO1_uc001hzj.2_Missense_Mutation_p.R762I|EXO1_uc009xgq.2_Missense_Mutation_p.R761I	p.R762I	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		15	2825	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	762			Interaction with MSH2.		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	37	c.2285G>T	CCDS1620.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.085633|4.085633	0.76642|0.76642	.|.	.|.	ENSG00000174371|ENSG00000174371	ENST00000521202|ENST00000366548;ENST00000348581;ENST00000518483	.|T;T;T	.|0.70516	.|-0.49;-0.49;-0.49	5.87|5.87	3.82|3.82	0.43975|0.43975	.|.	.|0.225948	.|0.47455	.|N	.|0.000239	T|T	0.60025|0.60025	0.2237|0.2237	L|L	0.60455|0.60455	1.87|1.87	0.48696|0.48696	D|D	0.999692|0.999692	.|P;P;P	.|0.46912	.|0.561;0.886;0.818	.|B;B;B	.|0.40534	.|0.145;0.332;0.232	T|T	0.61840|0.61840	-0.6980|-0.6980	5|10	.|0.87932	.|D	.|0	-36.6227|-36.6227	1.5475|1.5475	0.02568|0.02568	0.379:0.0:0.3257:0.2953|0.379:0.0:0.3257:0.2953	.|.	.|761;762;762	.|A8K5H6;Q9UQ84-4;Q9UQ84	.|.;.;EXO1_HUMAN	H|I	126|762	.|ENSP00000355506:R762I;ENSP00000311873:R762I;ENSP00000430251:R762I	.|ENSP00000311873:R762I	Q|R	+|+	3|2	2|0	EXO1|EXO1	240115312|240115312	1.000000|1.000000	0.71417|0.71417	0.873000|0.873000	0.34254|0.34254	0.986000|0.986000	0.74619|0.74619	3.250000|3.250000	0.51445|0.51445	0.717000|0.717000	0.32145|0.32145	0.563000|0.563000	0.77884|0.77884	CAG|AGA		0.478	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		25	44	1	0	6.00712e-18	0.012213	7.57168e-18	25	44				
HNRNPU	3192	broad.mit.edu	37	1	245018903	245018903	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:245018903C>T	ENST00000283179.9	-	12	2338	c.2175G>A	c.(2173-2175)ggG>ggA	p.G725G	HNRNPU-AS1_ENST00000475997.1_RNA|HNRNPU-AS1_ENST00000489705.1_RNA|HNRNPU_ENST00000444376.2_Silent_p.G706G			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	725	Gly-rich.|RNA-binding RGG-box.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G725G(2)|p.G706G(2)		NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CGCCACGATTCCCAGGGGCTA	0.468																																					NSCLC(33;911 1010 3329 23631 49995)	NSCLC(33;911 1010 3329 23631 49995)	uc001iaz.1		NA																	4	Substitution - coding silent(4)		lung(4)		0						c.(2173-2175)GGG>GGA		heterogeneous nuclear ribonucleoprotein U							49.0	50.0	50.0					1																	245018903		2203	4300	6503	SO:0001819	synonymous_variant	3192				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	g.chr1:245018903C>T	X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.2175G>A	1.37:g.245018903C>T						HNRNPU_uc001iaw.1_RNA|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Silent_p.G449G|HNRNPU_uc001iba.1_Silent_p.G706G	p.G725G	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		12	2393	-	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		725			RNA-binding RGG-box.|Gly-rich.		O75507|Q8N174|Q96HY9|Q9BQ09	Silent	SNP	ENST00000283179.9	37	c.2175G>A	CCDS41479.1																																																																																				0.468	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		11	90	0	0	0	0.003163	0	11	90				
OR2G2	81470	broad.mit.edu	37	1	247751695	247751695	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:247751695C>G	ENST00000320065.1	+	1	34	c.34C>G	c.(34-36)Cta>Gta	p.L12V	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L12V(2)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	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)			TGAGAGCAACCTAGCAGGTTT	0.393																																							uc010pyy.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(34-36)CTA>GTA		olfactory receptor, family 2, subfamily G,							166.0	156.0	159.0					1																	247751695		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247751695C>G	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.34C>G	1.37:g.247751695C>G	ENSP00000326349:p.Leu12Val						p.L12V	NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	34	+	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)		12			Extracellular (Potential).		Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.34C>G	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	C	4.416	0.076936	0.08485	.	.	ENSG00000177489	ENST00000320065	T	0.00299	8.22	3.57	-4.55	0.03441	.	1.388530	0.05855	U	0.621948	T	0.00073	0.0002	N	0.01761	-0.735	0.09310	N	1	B	0.23442	0.085	B	0.18263	0.021	T	0.12682	-1.0538	10	0.15952	T	0.53	.	0.6021	0.00746	0.3593:0.2016:0.249:0.19	.	12	Q8NGZ5	OR2G2_HUMAN	V	12	ENSP00000326349:L12V	ENSP00000326349:L12V	L	+	1	2	OR2G2	245818318	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-4.782000	0.00186	-0.669000	0.05289	-0.214000	0.12660	CTA		0.393	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			106	132	0	0	0	0.01441	0	106	132				
SH3BP5L	80851	broad.mit.edu	37	1	249107312	249107312	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:249107312C>A	ENST00000366472.5	-	6	1816	c.587G>T	c.(586-588)cGa>cTa	p.R196L	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Missense_Mutation_p.R164L	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	196								p.R196L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CCGAGTCACTCGCTGGTGCTC	0.637																																							uc001iew.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(586-588)CGA>CTA		SH3-binding domain protein 5-like							42.0	39.0	40.0					1																	249107312		2203	4300	6503	SO:0001583	missense	80851							g.chr1:249107312C>A	AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.587G>T	1.37:g.249107312C>A	ENSP00000355428:p.Arg196Leu					SH3BP5L_uc010pzp.1_Missense_Mutation_p.R89L|SH3BP5L_uc010pzq.1_Missense_Mutation_p.R164L|SH3BP5L_uc001iev.1_Missense_Mutation_p.R77L	p.R196L	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		6	1139	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	196			Potential.		B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Missense_Mutation	SNP	ENST00000366472.5	37	c.587G>T	CCDS31126.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.899301	0.91962	.	.	ENSG00000175137	ENST00000366472;ENST00000411742	T	0.79749	-1.3	4.4	4.4	0.53042	.	0.000000	0.85682	D	0.000000	D	0.87724	0.6249	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.69078	0.979;0.979;0.979;0.997	P;P;P;D	0.66602	0.859;0.799;0.859;0.945	D	0.89042	0.3449	10	0.62326	D	0.03	-29.1863	14.8588	0.70362	0.0:1.0:0.0:0.0	.	164;89;196;54	B4DQ94;B4DSF1;Q7L8J4;Q96MW4	.;.;3BP5L_HUMAN;.	L	196;164	ENSP00000412203:R164L	ENSP00000355428:R196L	R	-	2	0	SH3BP5L	247073935	1.000000	0.71417	0.999000	0.59377	0.816000	0.46133	5.137000	0.64789	2.156000	0.67533	0.467000	0.42956	CGA		0.637	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1	NM_030645		5	6	1	0	2.14196e-07	0.007291	2.38198e-07	5	6				
SFMBT2	57713	broad.mit.edu	37	10	7325987	7325987	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:7325987G>A	ENST00000361972.4	-	6	741	c.651C>T	c.(649-651)cgC>cgT	p.R217R	SFMBT2_ENST00000397167.1_Silent_p.R217R	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	217					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.R217R(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CATAGCGAAGGCGTAATCTTC	0.413																																							uc009xio.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						c.(649-651)CGC>CGT		Scm-like with four mbt domains 2							147.0	127.0	134.0					10																	7325987		2203	4300	6503	SO:0001819	synonymous_variant	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7325987G>A	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.651C>T	10.37:g.7325987G>A						SFMBT2_uc001ijn.1_Silent_p.R217R|SFMBT2_uc010qay.1_Silent_p.R217R	p.R217R	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN			6	742	-			217			MBT 2.		A7MD09|Q9HCF5	Silent	SNP	ENST00000361972.4	37	c.651C>T	CCDS31138.1																																																																																				0.413	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		11	173	0	0	0	0.016723	0	11	173				
TAF3	83860	broad.mit.edu	37	10	8056639	8056639	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:8056639G>C	ENST00000344293.5	+	7	2921	c.2715G>C	c.(2713-2715)atG>atC	p.M905I		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	905					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)	p.M905I(2)		NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CAGAAGAGATGCAGTGGTTCT	0.507																																							uc010qbd.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2713-2715)ATG>ATC		RNA polymerase II transcription factor TAFII140							88.0	90.0	90.0					10																	8056639		1990	4158	6148	SO:0001583	missense	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8056639G>C	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.2715G>C	10.37:g.8056639G>C	ENSP00000340271:p.Met905Ile						p.M905I	NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN			7	2715	+			905			PHD-type.		Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	ENST00000344293.5	37	c.2715G>C	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104546	0.56291	.	.	ENSG00000165632	ENST00000344293	D	0.84298	-1.83	5.1	5.1	0.69264	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.154190	0.45606	D	0.000352	T	0.68137	0.2968	N	0.03608	-0.345	0.39261	D	0.964215	B	0.30146	0.27	B	0.28011	0.085	T	0.70479	-0.4860	10	0.38643	T	0.18	-34.3613	12.262	0.54655	0.0783:0.0:0.9217:0.0	.	905	Q5VWG9	TAF3_HUMAN	I	905	ENSP00000340271:M905I	ENSP00000340271:M905I	M	+	3	0	TAF3	8096645	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.627000	0.46469	2.529000	0.85273	0.555000	0.69702	ATG		0.507	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		16	43	0	0	0	0.00499	0	16	43				
PROSER2	254427	broad.mit.edu	37	10	11911910	11911910	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:11911910G>T	ENST00000277570.5	+	4	967	c.813G>T	c.(811-813)ctG>ctT	p.L271L	PROSER2_ENST00000379200.1_Silent_p.L75L|PROSER2-AS1_ENST00000453242.1_RNA|PROSER2-AS1_ENST00000445498.1_RNA	NM_153256.3	NP_694988.3	Q86WR7	PRSR2_HUMAN	proline and serine rich 2	271								p.L271L(1)									GCAGGACCCTGTCCAGGGCGG	0.776																																							uc001ikx.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(811-813)CTG>CTT		hypothetical protein LOC254427							3.0	4.0	4.0					10																	11911910		1656	3469	5125	SO:0001819	synonymous_variant	254427							g.chr10:11911910G>T	BC017269	CCDS7085.1	10p14	2014-02-19	2014-02-19	2012-12-05	ENSG00000148426	ENSG00000148426			23728	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 47"", ""proline and serine-rich protein 2"""	C10orf47		12477932	Standard	NM_153256		Approved	MGC35403	uc001ikx.3	Q86WR7	OTTHUMG00000017673	ENST00000277570.5:c.813G>T	10.37:g.11911910G>T						uc001iky.1_Intron	p.L271L	NM_153256	NP_694988	Q86WR7	CJ047_HUMAN			4	967	+			271					D3DRR8|Q5W0J9|Q5W0K0|Q5W0K1|Q5W0K2|Q6PJC8|Q8N317	Silent	SNP	ENST00000277570.5	37	c.813G>T	CCDS7085.1																																																																																				0.776	PROSER2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090189.2	NM_153256		6	2	1	0	0.000442599	0.006214	0.000462664	6	2				
NUDT5	11164	broad.mit.edu	37	10	12209745	12209745	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:12209745G>T	ENST00000491614.1	-	10	1011	c.616C>A	c.(616-618)Cat>Aat	p.H206N	SEC61A2_ENST00000495368.1_Intron|NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000378937.3_Missense_Mutation_p.H219N|SEC61A2_ENST00000304267.8_Intron|NUDT5_ENST00000537776.1_Missense_Mutation_p.H206N			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	206					D-ribose catabolic process (GO:0019303)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|ribonucleoside diphosphate catabolic process (GO:0009191)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)|magnesium ion binding (GO:0000287)|nucleoside-diphosphatase activity (GO:0017110)|snoRNA binding (GO:0030515)	p.H206N(1)		breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				GCATTTGCATGTTTCAGTGCT	0.443																																							uc001ilj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(616-618)CAT>AAT		nudix-type motif 5							161.0	147.0	152.0					10																	12209745		2203	4300	6503	SO:0001583	missense	11164				D-ribose catabolic process|ribonucleoside diphosphate catabolic process	intracellular	ADP-ribose diphosphatase activity|magnesium ion binding	g.chr10:12209745G>T	AF155832	CCDS7089.1	10p14	2008-05-14			ENSG00000165609	ENSG00000165609		"""Nudix motif containing"""	8052	protein-coding gene	gene with protein product		609230				10373642	Standard	NM_014142		Approved	hYSAH1, YSA1H	uc001ilj.3	Q9UKK9	OTTHUMG00000017682	ENST00000491614.1:c.616C>A	10.37:g.12209745G>T	ENSP00000419628:p.His206Asn					SEC61A2_uc001ilf.3_Intron|SEC61A2_uc001ilh.3_Intron|SEC61A2_uc001ilg.3_Intron|uc001ili.1_5'Flank|NUDT5_uc001ilk.2_3'UTR	p.H206N	NM_014142	NP_054861	Q9UKK9	NUDT5_HUMAN			10	1032	-		Renal(717;0.228)	206					A8K516|Q6IAG0|Q9UH49	Missense_Mutation	SNP	ENST00000491614.1	37	c.616C>A	CCDS7089.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.903897	0.52333	.	.	ENSG00000165609	ENST00000491614;ENST00000378937;ENST00000537776	T;T;T	0.42900	0.97;0.96;0.97	5.17	5.17	0.71159	NUDIX hydrolase domain-like (1);	0.216317	0.48286	D	0.000182	T	0.43612	0.1255	L	0.46157	1.445	0.40797	D	0.983302	P	0.48294	0.908	P	0.46796	0.527	T	0.27839	-1.0062	10	0.27785	T	0.31	-19.823	15.8289	0.78736	0.0:0.0:1.0:0.0	.	206	Q9UKK9	NUDT5_HUMAN	N	206;219;206	ENSP00000419628:H206N;ENSP00000368219:H219N;ENSP00000445116:H206N	ENSP00000368219:H219N	H	-	1	0	NUDT5	12249751	1.000000	0.71417	0.865000	0.33974	0.221000	0.24807	6.037000	0.70956	2.400000	0.81607	0.557000	0.71058	CAT		0.443	NUDT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046811.1			103	109	1	0	1.07597e-44	0.01441	1.50636e-44	103	109				
PTPLA	9200	broad.mit.edu	37	10	17636321	17636321	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:17636321C>T	ENST00000361271.3	-	6	704	c.667G>A	c.(667-669)Gct>Act	p.A223T		NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	223					fatty acid biosynthetic process (GO:0006633)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)|protein tyrosine phosphatase activity (GO:0004725)	p.A223T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						GGCAAGGCAGCGTATATTGTA	0.313																																							uc001ipg.2		NA																	1	Substitution - Missense(1)		breast(1)	central_nervous_system(1)|skin(1)	2						c.(667-669)GCT>ACT		protein tyrosine phosphatase-like, member A							67.0	67.0	67.0					10																	17636321		2203	4297	6500	SO:0001583	missense	9200				fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity	g.chr10:17636321C>T	AF114494	CCDS7121.1	10p14-p13	2008-08-01	2005-11-11		ENSG00000165996	ENSG00000165996			9639	protein-coding gene	gene with protein product	"""cementum attachment protein"""	610467	"""protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a"""			10644438	Standard	XM_005252641		Approved	CAP	uc001ipg.3	B0YJ81	OTTHUMG00000017750	ENST00000361271.3:c.667G>A	10.37:g.17636321C>T	ENSP00000355308:p.Ala223Thr						p.A223T	NM_014241	NP_055056	B0YJ81	HACD1_HUMAN			6	702	-			223			Lumenal (Potential).		B0YJ80|Q6JIC5|Q96FW7|Q9HB93|Q9UHX2	Missense_Mutation	SNP	ENST00000361271.3	37	c.667G>A	CCDS7121.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129562	0.77549	.	.	ENSG00000165996	ENST00000361271	T	0.30981	1.51	5.72	5.72	0.89469	.	0.047879	0.85682	D	0.000000	T	0.32071	0.0817	L	0.58101	1.795	0.80722	D	1	P	0.38677	0.642	B	0.33750	0.169	T	0.05582	-1.0876	10	0.21540	T	0.41	-22.8911	20.2406	0.98372	0.0:1.0:0.0:0.0	.	223	B0YJ81	HACD1_HUMAN	T	223	ENSP00000355308:A223T	ENSP00000355308:A223T	A	-	1	0	PTPLA	17676327	0.999000	0.42202	0.991000	0.47740	0.938000	0.57974	3.973000	0.56845	2.857000	0.98124	0.650000	0.86243	GCT		0.313	PTPLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047046.1	NM_014241		5	99	0	0	0	0.014758	0	5	99				
ARMC3	219681	broad.mit.edu	37	10	23270366	23270366	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:23270366A>T	ENST00000298032.5	+	9	1098	c.1014A>T	c.(1012-1014)caA>caT	p.Q338H	ARMC3_ENST00000376528.4_Missense_Mutation_p.Q75H|ARMC3_ENST00000409049.3_Missense_Mutation_p.Q338H|ARMC3_ENST00000409983.3_Missense_Mutation_p.Q338H	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	338						extracellular vesicular exosome (GO:0070062)		p.Q338H(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTGCTTCCCAAGCTATTTCAG	0.363																																							uc001irm.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1012-1014)CAA>CAT		armadillo repeat containing 3							74.0	74.0	74.0					10																	23270366		2203	4300	6503	SO:0001583	missense	219681						binding	g.chr10:23270366A>T	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1014A>T	10.37:g.23270366A>T	ENSP00000298032:p.Gln338His					ARMC3_uc010qcv.1_Missense_Mutation_p.Q338H|ARMC3_uc010qcw.1_Missense_Mutation_p.Q75H	p.Q338H	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN			9	1097	+			338			ARM 8.		A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.1014A>T	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	A	14.73	2.622440	0.46840	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	5.05	-5.34	0.02705	Armadillo-like helical (1);Armadillo-type fold (1);	0.333500	0.32719	N	0.005734	T	0.25901	0.0631	L	0.53249	1.67	0.41187	D	0.986271	P;D	0.60575	0.897;0.988	P;D	0.65684	0.785;0.937	T	0.05273	-1.0895	10	0.54805	T	0.06	0.0085	9.7205	0.40300	0.4529:0.1034:0.4437:0.0	.	338;338	Q5W041-4;Q5W041	.;ARMC3_HUMAN	H	338;338;274;338;75	ENSP00000298032:Q338H;ENSP00000386943:Q338H;ENSP00000387288:Q338H;ENSP00000365711:Q75H	ENSP00000298032:Q338H	Q	+	3	2	ARMC3	23310372	0.996000	0.38824	0.654000	0.29608	0.788000	0.44548	0.364000	0.20325	-0.940000	0.03705	0.459000	0.35465	CAA		0.363	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		4	71	0	0	0	0.009096	0	4	71				
ARMC3	219681	broad.mit.edu	37	10	23292330	23292330	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:23292330A>G	ENST00000298032.5	+	13	1802	c.1718A>G	c.(1717-1719)tAt>tGt	p.Y573C	ARMC3_ENST00000376528.4_Missense_Mutation_p.Y310C|ARMC3_ENST00000409049.3_Missense_Mutation_p.Y573C|ARMC3_ENST00000409983.3_Missense_Mutation_p.Y573C	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	573						extracellular vesicular exosome (GO:0070062)		p.Y573C(2)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GATGGATTCTATGATTATGGT	0.333																																							uc001irm.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1717-1719)TAT>TGT		armadillo repeat containing 3							135.0	139.0	137.0					10																	23292330		2203	4300	6503	SO:0001583	missense	219681						binding	g.chr10:23292330A>G	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1718A>G	10.37:g.23292330A>G	ENSP00000298032:p.Tyr573Cys					ARMC3_uc010qcv.1_Missense_Mutation_p.Y573C|ARMC3_uc010qcw.1_Missense_Mutation_p.Y310C	p.Y573C	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN			13	1801	+			573					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.1718A>G	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.453708	0.63290	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.65364	-0.05;-0.07;-0.15;1.09	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.80303	0.4598	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.83363	0.0003	10	0.87932	D	0	-5.3104	15.6441	0.77033	1.0:0.0:0.0:0.0	.	573;573	Q5W041-4;Q5W041	.;ARMC3_HUMAN	C	573;573;509;573;310	ENSP00000298032:Y573C;ENSP00000386943:Y573C;ENSP00000387288:Y573C;ENSP00000365711:Y310C	ENSP00000298032:Y573C	Y	+	2	0	ARMC3	23332336	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	4.865000	0.62998	2.093000	0.63338	0.460000	0.39030	TAT		0.333	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		100	90	0	0	0	0.01441	0	100	90				
ARMC4	55130	broad.mit.edu	37	10	28260243	28260243	+	Splice_Site	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:28260243C>A	ENST00000305242.5	-	8	1029		c.e8-1		ARMC4_ENST00000545014.1_Intron|ARMC4_ENST00000480504.1_Splice_Site|ARMC4_ENST00000537576.1_Splice_Site|ARMC4_ENST00000239715.3_Splice_Site	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4						cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.?(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AGCTAATTCCCTTTATTTAAA	0.388																																							uc009xky.2		NA																	1	Unknown(1)		lung(1)	ovary(4)|skin(2)	6						c.e8-1		armadillo repeat containing 4							35.0	34.0	34.0					10																	28260243		2203	4300	6503	SO:0001630	splice_region_variant	55130						binding	g.chr10:28260243C>A	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.937-1G>T	10.37:g.28260243C>A						ARMC4_uc010qds.1_Intron|ARMC4_uc010qdt.1_Splice_Site_p.G5_splice|ARMC4_uc001itz.2_Splice_Site_p.G313_splice|ARMC4_uc010qdu.1_Splice_Site_p.G5_splice	p.G313_splice	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN			8	1035	-								A8K906|B7Z7I1|Q9H0C0	Splice_Site	SNP	ENST00000305242.5	37	c.937_splice	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.858040	0.32791	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000537573;ENST00000434029;ENST00000239715	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7367	0.69422	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARMC4	28300249	0.994000	0.37717	0.185000	0.23176	0.004000	0.04260	3.412000	0.52679	2.619000	0.88677	0.650000	0.86243	.		0.388	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076	Intron	7	61	1	0	0.00198382	0.001984	0.00205458	7	61				
ZEB1	6935	broad.mit.edu	37	10	31810791	31810791	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:31810791A>G	ENST00000320985.10	+	7	2638	c.2528A>G	c.(2527-2529)tAc>tGc	p.Y843C	ZEB1_ENST00000446923.2_Missense_Mutation_p.Y827C|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Missense_Mutation_p.Y823C|ZEB1_ENST00000542815.3_Missense_Mutation_p.Y776C|ZEB1_ENST00000361642.5_Missense_Mutation_p.Y844C			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	843					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.Y843C(2)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CAGGTGGCATACACCTACTCA	0.483																																					Ovarian(40;423 959 14296 36701 49589)	Ovarian(40;423 959 14296 36701 49589)	uc001ivs.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)	5						c.(2527-2529)TAC>TGC		zinc finger E-box binding homeobox 1 isoform b							97.0	92.0	93.0					10																	31810791		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31810791A>G	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2528A>G	10.37:g.31810791A>G	ENSP00000319248:p.Tyr843Cys					ZEB1_uc001ivr.3_Missense_Mutation_p.Y625C|ZEB1_uc010qee.1_Missense_Mutation_p.Y625C|ZEB1_uc010qef.1_Missense_Mutation_p.Y625C|ZEB1_uc009xlj.1_Missense_Mutation_p.Y769C|ZEB1_uc010qeg.1_Missense_Mutation_p.Y702C|ZEB1_uc009xlk.1_Missense_Mutation_p.Y625C|ZEB1_uc001ivt.3_Missense_Mutation_p.Y625C|ZEB1_uc001ivu.3_Missense_Mutation_p.Y844C|ZEB1_uc001ivv.3_Missense_Mutation_p.Y823C|ZEB1_uc010qeh.1_Missense_Mutation_p.Y776C|ZEB1_uc009xlo.1_Missense_Mutation_p.Y826C|ZEB1_uc009xlp.2_Missense_Mutation_p.Y827C	p.Y843C	NM_030751	NP_110378	P37275	ZEB1_HUMAN			7	2591	+		Prostate(175;0.0156)	843					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.2528A>G	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	A	15.44	2.835531	0.50951	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	T;T;T;T;T	0.15952	2.71;2.39;2.45;2.38;2.44	5.68	5.68	0.88126	.	0.000000	0.51477	D	0.000090	T	0.42040	0.1185	M	0.65975	2.015	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.998;0.996;0.996;0.996;0.999;0.996;0.996	T	0.28808	-1.0032	10	0.87932	D	0	-13.5983	16.2322	0.82352	1.0:0.0:0.0:0.0	.	776;843;827;843;843;823;844;843	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	C	625;843;844;838;776;843;823;734;827	ENSP00000444282:Y625C;ENSP00000354487:Y844C;ENSP00000444891:Y776C;ENSP00000319248:Y843C;ENSP00000391612:Y827C	ENSP00000319248:Y843C	Y	+	2	0	ZEB1	31850797	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	8.910000	0.92685	2.288000	0.76882	0.528000	0.53228	TAC		0.483	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		58	47	0	0	0	0.01441	0	58	47				
CUL2	8453	broad.mit.edu	37	10	35327986	35327986	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:35327986C>A	ENST00000374748.1	-	10	1052	c.739G>T	c.(739-741)Gaa>Taa	p.E247*	CUL2_ENST00000374751.3_Nonsense_Mutation_p.E247*|CUL2_ENST00000537177.1_Nonsense_Mutation_p.E266*|CUL2_ENST00000374746.1_Nonsense_Mutation_p.E247*|CUL2_ENST00000602371.1_Nonsense_Mutation_p.E190*|CUL2_ENST00000374742.1_Nonsense_Mutation_p.E247*|CUL2_ENST00000374749.3_Nonsense_Mutation_p.E247*			Q13617	CUL2_HUMAN	cullin 2	247					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)	p.E247*(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CATCGAATTTCTTCATCTTTT	0.318																																							uc001ixv.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(739-741)GAA>TAA		cullin 2							99.0	91.0	94.0					10																	35327986		2203	4295	6498	SO:0001587	stop_gained	8453				cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:35327986C>A	U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.739G>T	10.37:g.35327986C>A	ENSP00000363880:p.Glu247*					CUL2_uc009xma.2_Nonsense_Mutation_p.E116*|CUL2_uc010qer.1_Nonsense_Mutation_p.E266*|CUL2_uc001ixw.2_Nonsense_Mutation_p.E247*|CUL2_uc010qes.1_Nonsense_Mutation_p.E184*	p.E247*	NM_003591	NP_003582	Q13617	CUL2_HUMAN			9	949	-			247					B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Nonsense_Mutation	SNP	ENST00000374748.1	37	c.739G>T	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	C	37	6.518446	0.97633	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-30.3012	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	247;247;247;247;190;247;266	.	ENSP00000363874:E247X	E	-	1	0	CUL2	35367992	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GAA		0.318	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		6	54	1	0	0.00198382	0.001984	0.00205458	6	54				
FRMPD2	143162	broad.mit.edu	37	10	49371699	49371699	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:49371699C>T	ENST00000374201.3	-	28	3855	c.3553G>A	c.(3553-3555)Gct>Act	p.A1185T	FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000407470.4_Missense_Mutation_p.A1153T|FRMPD2_ENST00000474573.1_Missense_Mutation_p.A137T|FRMPD2_ENST00000305531.3_Missense_Mutation_p.A1160T	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	1185					tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.A1185T(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TCTTTGTCAGCTGAGAGTTCA	0.458																																							uc001jgi.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(3553-3555)GCT>ACT		FERM and PDZ domain containing 2 isoform 3							104.0	112.0	109.0					10																	49371699		2189	4297	6486	SO:0001583	missense	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49371699C>T	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.3553G>A	10.37:g.49371699C>T	ENSP00000363317:p.Ala1185Thr					FRMPD2_uc001jgh.2_Missense_Mutation_p.A1153T|FRMPD2_uc001jgj.2_Missense_Mutation_p.A1163T|FRMPD2L1_uc001jgf.2_Missense_Mutation_p.A196T|FRMPD2_uc001jgg.2_Missense_Mutation_p.A137T|FRMPD2_uc001jgk.2_Missense_Mutation_p.A137T	p.A1185T	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	28	3660	-			1185					B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	c.3553G>A	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	C	0.994	-0.693132	0.03303	.	.	ENSG00000170324	ENST00000474573;ENST00000374201;ENST00000305531;ENST00000407470	T;T;T;T	0.63580	3.55;-0.01;-0.05;-0.05	3.75	-0.861	0.10676	.	.	.	.	.	T	0.40196	0.1107	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B	0.32829	0.12;0.386;0.001;0.386;0.202	B;B;B;B;B	0.34242	0.117;0.178;0.001;0.178;0.117	T	0.28522	-1.0041	9	0.39692	T	0.17	.	1.0555	0.01589	0.1527:0.3824:0.2338:0.2311	.	137;1160;1185;1153;196	Q68DX3-5;Q68DX3-2;Q68DX3;F8WCT2;Q68DX3-4	.;.;FRPD2_HUMAN;.;.	T	137;1185;1160;1153	ENSP00000422446:A137T;ENSP00000363317:A1185T;ENSP00000307079:A1160T;ENSP00000384339:A1153T	ENSP00000307079:A1160T	A	-	1	0	FRMPD2	49041705	0.000000	0.05858	0.000000	0.03702	0.433000	0.31745	-0.174000	0.09839	-0.044000	0.13491	-0.347000	0.07816	GCT		0.458	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		11	193	0	0	0	0.006122	0	11	193				
ASAH2	56624	broad.mit.edu	37	10	52005145	52005145	+	Missense_Mutation	SNP	C	C	A	rs569459344		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:52005145C>A	ENST00000395526.4	-	2	196	c.197G>T	c.(196-198)cGc>cTc	p.R66L	ASAH2_ENST00000329428.6_Missense_Mutation_p.R47L|ASAH2_ENST00000447815.1_Missense_Mutation_p.R66L	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	66					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ceramidase activity (GO:0017040)	p.R47L(2)|p.R66L(2)		large_intestine(1)|lung(9)|urinary_tract(1)	11						GGCTGTGGAGCGTTGGGCAGC	0.507																																							uc001jjd.2		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(196-198)CGC>CTC		N-acylsphingosine amidohydrolase 2 isoform a							81.0	90.0	87.0					10																	52005145		2203	4300	6503	SO:0001583	missense	56624				apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity	g.chr10:52005145C>A	AF250847	CCDS7239.2, CCDS44398.1	10q11.23	2008-08-11			ENSG00000188611	ENSG00000188611			18860	protein-coding gene	gene with protein product		611202				10781606	Standard	NM_019893		Approved		uc001jjd.3	Q9NR71	OTTHUMG00000018223	ENST00000395526.4:c.197G>T	10.37:g.52005145C>A	ENSP00000378897:p.Arg66Leu					ASAH2_uc009xos.2_Missense_Mutation_p.R66L	p.R66L	NM_019893	NP_063946	Q9NR71	ASAH2_HUMAN			2	197	-			66			Lumenal (Potential).		Q3KNU1|Q5SNT7|Q5SZP6|Q5SZP7|Q5T1D5|Q71ME6	Missense_Mutation	SNP	ENST00000395526.4	37	c.197G>T	CCDS7239.2	.	.	.	.	.	.	.	.	.	.	C	1.428	-0.571096	0.03882	.	.	ENSG00000188611	ENST00000395526;ENST00000447815;ENST00000329428	T;T;T	0.29655	1.56;1.56;1.56	2.28	0.00923	0.14078	.	2577.800000	0.00166	U	0.000000	T	0.16385	0.0394	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.12156	0.007;0.0	T	0.15752	-1.0426	10	0.33940	T	0.23	.	3.7918	0.08724	0.0:0.5204:0.0:0.4796	.	66;66	Q9NR71-2;Q9NR71	.;ASAH2_HUMAN	L	66;66;47	ENSP00000378897:R66L;ENSP00000388206:R66L;ENSP00000329886:R47L	ENSP00000329886:R47L	R	-	2	0	ASAH2	51675151	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.011000	0.13264	0.183000	0.20059	0.561000	0.74099	CGC		0.507	ASAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048061.3	NM_019893		35	66	1	0	1.61788e-16	0.012213	2.01336e-16	35	66				
PCDH15	65217	broad.mit.edu	37	10	55591271	55591271	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:55591271C>A	ENST00000320301.6	-	30	4400	c.4006G>T	c.(4006-4008)Gat>Tat	p.D1336Y	PCDH15_ENST00000395438.1_Missense_Mutation_p.D1336Y|PCDH15_ENST00000409834.1_Missense_Mutation_p.D947Y|PCDH15_ENST00000373965.2_Missense_Mutation_p.D1343Y|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.D1314Y|PCDH15_ENST00000395445.1_Missense_Mutation_p.D1343Y|PCDH15_ENST00000437009.1_Missense_Mutation_p.D1265Y|PCDH15_ENST00000395430.1_Missense_Mutation_p.D1336Y|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.D1299Y|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000414778.1_Missense_Mutation_p.D1341Y|PCDH15_ENST00000361849.3_Missense_Mutation_p.D1336Y|PCDH15_ENST00000395440.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1336					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.D1336Y(4)|p.D1341Y(4)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTATTGATATCAAGTAGTTTG	0.353										HNSCC(58;0.16)																													uc001jju.1		NA																	8	Substitution - Missense(8)		lung(8)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4006-4008)GAT>TAT		protocadherin 15 isoform CD1-4 precursor							73.0	71.0	71.0					10																	55591271		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55591271C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4006G>T	10.37:g.55591271C>A	ENSP00000322604:p.Asp1336Tyr	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.D1341Y|PCDH15_uc010qhr.1_Missense_Mutation_p.D1336Y|PCDH15_uc010qhs.1_Missense_Mutation_p.D1348Y|PCDH15_uc010qht.1_Missense_Mutation_p.D1343Y|PCDH15_uc010qhu.1_Missense_Mutation_p.D1336Y|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.D1336Y|PCDH15_uc010qhw.1_Missense_Mutation_p.D1299Y|PCDH15_uc010qhx.1_Missense_Mutation_p.D1265Y|PCDH15_uc010qhy.1_Missense_Mutation_p.D1341Y|PCDH15_uc010qhz.1_Missense_Mutation_p.D1336Y|PCDH15_uc010qia.1_Missense_Mutation_p.D1314Y|PCDH15_uc010qib.1_Missense_Mutation_p.D1314Y	p.D1336Y	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			30	4401	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1336			Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4006G>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.706254	0.89018	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.60171	0.36;0.39;0.34;0.35;0.31;0.25;0.22;0.27;0.23;0.21;0.22	5.76	5.76	0.90799	.	.	.	.	.	T	0.69396	0.3106	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.987;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;P;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.993;0.993;0.757;0.993;0.993;0.999;0.982;0.99;0.99;0.982;0.99;0.993	T	0.71417	-0.4599	9	0.87932	D	0	.	19.5586	0.95363	0.0:1.0:0.0:0.0	.	1314;1336;1336;1341;1265;1299;1336;1336;1343;1343;1336;1341;1336	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	Y	1343;1341;1336;1336;947;1343;1299;1336;1314;1336;1336;1341;1265	ENSP00000363076:D1343Y;ENSP00000410304:D1341Y;ENSP00000378826:D1336Y;ENSP00000386693:D947Y;ENSP00000378832:D1343Y;ENSP00000378820:D1299Y;ENSP00000354950:D1336Y;ENSP00000378821:D1314Y;ENSP00000322604:D1336Y;ENSP00000378818:D1336Y;ENSP00000412628:D1265Y	ENSP00000322604:D1336Y	D	-	1	0	PCDH15	55261277	1.000000	0.71417	0.970000	0.41538	0.988000	0.76386	7.814000	0.86154	2.714000	0.92807	0.591000	0.81541	GAT		0.353	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		26	65	1	0	3.17567e-06	0.008361	3.43885e-06	26	65				
ANK3	288	broad.mit.edu	37	10	61874084	61874084	+	Silent	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:61874084T>C	ENST00000280772.2	-	26	3038	c.2847A>G	c.(2845-2847)ctA>ctG	p.L949L	ANK3_ENST00000503366.1_Silent_p.L950L|ANK3_ENST00000373827.2_Silent_p.L943L|ANK3_ENST00000355288.2_Silent_p.L83L	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	949					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.L949L(2)|p.L584L(2)|p.L83L(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						TTGTGAATGTTAGATGCTGAA	0.328																																							uc001jky.2		NA																	6	Substitution - coding silent(6)		lung(6)	skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(2845-2847)CTA>CTG		ankyrin 3 isoform 1							65.0	61.0	62.0					10																	61874084		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61874084T>C	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.2847A>G	10.37:g.61874084T>C						ANK3_uc001jkw.2_Silent_p.L83L|ANK3_uc009xpa.2_Silent_p.L83L|ANK3_uc001jkx.2_Silent_p.L127L|ANK3_uc010qih.1_Silent_p.L950L|ANK3_uc001jkz.3_Silent_p.L943L|ANK3_uc001jla.1_Silent_p.L15L|ANK3_uc001jlb.1_Silent_p.L456L	p.L949L	NM_020987	NP_066267	Q12955	ANK3_HUMAN			26	3039	-			949					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.2847A>G	CCDS7258.1																																																																																				0.328	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		10	63	0	0	0	0.006214	0	10	63				
HERC4	26091	broad.mit.edu	37	10	69716678	69716678	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:69716678G>T	ENST00000395198.3	-	18	2253	c.2006C>A	c.(2005-2007)gCa>gAa	p.A669E	HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000412272.2_Missense_Mutation_p.A669E|HERC4_ENST00000480158.1_5'Flank|HERC4_ENST00000277817.6_Missense_Mutation_p.A559E|HERC4_ENST00000373700.4_Missense_Mutation_p.A661E	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	669					cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.A669E(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						AGTAGTTTTTGCTTGGGCATC	0.318																																							uc001jng.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(2005-2007)GCA>GAA		hect domain and RLD 4 isoform a							132.0	141.0	138.0					10																	69716678		2203	4299	6502	SO:0001583	missense	26091				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity	g.chr10:69716678G>T	AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.2006C>A	10.37:g.69716678G>T	ENSP00000378624:p.Ala669Glu					HERC4_uc009xpq.2_Missense_Mutation_p.A202E|HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Missense_Mutation_p.A661E|HERC4_uc009xpr.2_Missense_Mutation_p.A669E|HERC4_uc001jni.3_Missense_Mutation_p.A405E	p.A669E	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN			18	2317	-			669					Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Missense_Mutation	SNP	ENST00000395198.3	37	c.2006C>A	CCDS41533.1	.	.	.	.	.	.	.	.	.	.	G	33	5.263326	0.95399	.	.	ENSG00000148634	ENST00000277817;ENST00000412272;ENST00000395198;ENST00000373700	D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.90349	0.6980	M	0.78049	2.395	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	0.91635	0.997;0.996;0.992;0.998;0.999	D	0.90767	0.4669	10	0.87932	D	0	.	19.565	0.95389	0.0:0.0:1.0:0.0	.	669;559;519;661;669	Q5GLZ8-3;Q5GLZ8-6;Q5VXS9;Q5GLZ8-2;Q5GLZ8	.;.;.;.;HERC4_HUMAN	E	559;669;669;661	ENSP00000277817:A559E;ENSP00000416504:A669E;ENSP00000378624:A669E;ENSP00000362804:A661E	ENSP00000277817:A559E	A	-	2	0	HERC4	69386684	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.519000	0.98025	2.730000	0.93505	0.591000	0.81541	GCA		0.318	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359262.1	NM_015601		8	156	1	0	9.05144e-12	0.016723	1.06872e-11	8	156				
USP54	159195	broad.mit.edu	37	10	75289573	75289573	+	Missense_Mutation	SNP	C	C	G	rs372860097		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:75289573C>G	ENST00000339859.4	-	14	2025	c.1925G>C	c.(1924-1926)cGg>cCg	p.R642P	USP54_ENST00000408019.1_Missense_Mutation_p.R642P|USP54_ENST00000319786.7_Missense_Mutation_p.R642P|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000394811.2_5'UTR|RNU6-883P_ENST00000384597.1_RNA|USP54_ENST00000428547.1_Missense_Mutation_p.R492P			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	642					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)	p.R642P(2)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					AGAGCCTGGCCGTGCTGGGCC	0.522											OREG0020266	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(195;880 2046 8854 25025 38456)	Colon(195;880 2046 8854 25025 38456)	uc001juo.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(3)|lung(2)|kidney(1)	6						c.(1924-1926)CGG>CCG		ubiquitin specific peptidase 54							101.0	105.0	104.0					10																	75289573		1931	4141	6072	SO:0001583	missense	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75289573C>G	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.1925G>C	10.37:g.75289573C>G	ENSP00000345216:p.Arg642Pro		OREG0020266	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1159	USP54_uc001juk.2_5'UTR|USP54_uc001jul.2_5'UTR|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA|USP54_uc001jup.2_Missense_Mutation_p.R642P|USP54_uc010qkl.1_Missense_Mutation_p.R642P	p.R642P	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN			13	1942	-	Prostate(51;0.0112)		642					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	c.1925G>C	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670254	0.67814	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000319786	T;T;T	0.26957	1.73;1.73;1.7	5.66	4.74	0.60224	.	0.220755	0.29760	U	0.011276	T	0.44371	0.1290	L	0.52364	1.645	0.37807	D	0.927903	B;D;B	0.76494	0.004;0.999;0.038	B;D;B	0.67548	0.007;0.952;0.015	T	0.44742	-0.9308	10	0.37606	T	0.19	-3.5081	16.8308	0.85944	0.0:0.8714:0.1286:0.0	.	642;642;642	B7Z7X1;Q70EL1-6;Q70EL1	.;.;UBP54_HUMAN	P	642;642;492;642	ENSP00000345216:R642P;ENSP00000386080:R642P;ENSP00000408714:R492P	ENSP00000326547:R642P	R	-	2	0	USP54	74959579	0.260000	0.24053	0.409000	0.26459	0.969000	0.65631	1.874000	0.39568	1.484000	0.48361	0.655000	0.94253	CGG		0.522	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		65	174	0	0	0	0.01441	0	65	174				
KCNMA1	3778	broad.mit.edu	37	10	78708951	78708951	+	Silent	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:78708951G>C	ENST00000286628.8	-	22	2657	c.2658C>G	c.(2656-2658)ctC>ctG	p.L886L	KCNMA1_ENST00000406533.3_Silent_p.L890L|KCNMA1_ENST00000286627.5_Silent_p.L828L|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000404857.1_Silent_p.L869L|KCNMA1_ENST00000372440.1_Silent_p.L828L|RP11-443A13.5_ENST00000600782.1_RNA|RP11-443A13.5_ENST00000608791.1_RNA|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000372443.1_Silent_p.L828L|KCNMA1_ENST00000404771.3_Silent_p.L886L|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000354353.5_Silent_p.L889L	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	886					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.L890L(1)|p.L828L(1)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	ATTCCCGCTTGAGGTACTCAA	0.483																																							uc001jxn.2		NA																	2	Substitution - coding silent(2)		lung(2)	pancreas(2)|ovary(1)	3						c.(2656-2658)CTC>CTG		large conductance calcium-activated potassium	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						147.0	138.0	141.0					10																	78708951		2203	4300	6503	SO:0001819	synonymous_variant	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78708951G>C	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.2658C>G	10.37:g.78708951G>C						KCNMA1_uc001jxj.2_Silent_p.L832L|KCNMA1_uc001jxk.1_Silent_p.L504L|KCNMA1_uc009xrt.1_Silent_p.L677L|KCNMA1_uc001jxl.1_Silent_p.L511L|KCNMA1_uc001jxo.2_Silent_p.L869L|KCNMA1_uc001jxm.2_Silent_p.L828L|KCNMA1_uc001jxq.2_Silent_p.L831L	p.L886L	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		22	2835	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		886			Cytoplasmic (Potential).		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Silent	SNP	ENST00000286628.8	37	c.2658C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.89|15.89	2.967828|2.967828	0.53507|0.53507	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372421;ENST00000434208|ENST00000372403	.|.	.|.	.|.	5.93|5.93	4.97|4.97	0.65823|0.65823	.|.	.|.	.|.	.|.	.|.	T|.	0.49592|.	0.1566|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.47289|.	-0.9129|.	4|.	.|.	.|.	.|.	-13.2657|-13.2657	4.8338|4.8338	0.13454|0.13454	0.08:0.1916:0.596:0.1323|0.08:0.1916:0.596:0.1323	.|.	.|.	.|.	.|.	E|X	817;536|779	.|.	.|.	Q|S	-|-	1|2	0|0	KCNMA1|KCNMA1	78378957|78378957	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.482000|1.482000	0.35486|0.35486	2.814000|2.814000	0.96858|0.96858	0.655000|0.655000	0.94253|0.94253	CAA|TCA		0.483	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		9	188	0	0	0	0.008291	0	9	188				
CDHR1	92211	broad.mit.edu	37	10	85968522	85968522	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:85968522C>T	ENST00000372117.3	+	12	1308	c.1205C>T	c.(1204-1206)cCc>cTc	p.P402L	CDHR1_ENST00000332904.3_Missense_Mutation_p.P402L|CDHR1_ENST00000440770.2_Missense_Mutation_p.P161L	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	402	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)	p.P402L(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CTGGTGGGACCCAGGGGCATC	0.443																																							uc001kcv.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1204-1206)CCC>CTC		protocadherin 21 precursor							83.0	80.0	81.0					10																	85968522		2203	4300	6503	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85968522C>T	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1205C>T	10.37:g.85968522C>T	ENSP00000361189:p.Pro402Leu					CDHR1_uc001kcw.2_Missense_Mutation_p.P402L|CDHR1_uc009xst.2_Missense_Mutation_p.P161L	p.P402L	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN			12	1205	+			402			Cadherin 4.|Extracellular (Potential).		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.1205C>T	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365021	0.41902	.	.	ENSG00000148600	ENST00000332904;ENST00000372117;ENST00000440770	T;T;T	0.59638	0.25;0.25;0.41	5.53	4.63	0.57726	Cadherin (3);Cadherin-like (1);	0.157199	0.64402	N	0.000018	T	0.54631	0.1870	L	0.58428	1.81	0.41287	D	0.986953	B;B;B	0.22746	0.001;0.002;0.074	B;B;B	0.21917	0.003;0.003;0.037	T	0.55749	-0.8092	10	0.56958	D	0.05	-18.3534	13.3028	0.60334	0.0:0.9224:0.0:0.0776	.	161;402;402	E7EN47;Q96JP9-2;Q96JP9	.;.;CDHR1_HUMAN	L	402;402;161	ENSP00000331063:P402L;ENSP00000361189:P402L;ENSP00000415980:P161L	ENSP00000331063:P402L	P	+	2	0	CDHR1	85958502	0.996000	0.38824	0.009000	0.14445	0.845000	0.48019	4.651000	0.61447	1.336000	0.45506	0.655000	0.94253	CCC		0.443	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		6	43	0	0	0	0.001984	0	6	43				
PAPSS2	9060	broad.mit.edu	37	10	89475536	89475536	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:89475536C>G	ENST00000361175.4	+	7	1170	c.801C>G	c.(799-801)ccC>ccG	p.P267P	PAPSS2_ENST00000427144.2_Silent_p.P271P|PAPSS2_ENST00000456849.1_Silent_p.P267P	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	267					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)	p.P267P(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		GGGCCACTCCCCTCAAAGGTT	0.438																																							uc001kex.2		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(799-801)CCC>CCG		3'-phosphoadenosine 5'-phosphosulfate synthase 2							135.0	126.0	129.0					10																	89475536		2203	4300	6503	SO:0001819	synonymous_variant	9060				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity	g.chr10:89475536C>G	AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.801C>G	10.37:g.89475536C>G						PAPSS2_uc001kew.2_Silent_p.P267P|PAPSS2_uc009xtg.1_RNA	p.P267P	NM_004670	NP_004661	O95340	PAPS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)	7	1064	+		Melanoma(5;0.019)|Colorectal(252;0.123)	267			Adenylyl-sulfate kinase.		Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Silent	SNP	ENST00000361175.4	37	c.801C>G	CCDS7385.1																																																																																				0.438	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1			8	45	0	0	0	0.00308	0	8	45				
LIPM	340654	broad.mit.edu	37	10	90572926	90572926	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:90572926A>T	ENST00000404743.4	+	3	505	c.338A>T	c.(337-339)aAc>aTc	p.N113I	LIPM_ENST00000539337.1_Missense_Mutation_p.N73I	NM_001128215.1	NP_001121687.1	Q5VYY2	LIPM_HUMAN	lipase, family member M	113					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)	p.N113I(2)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)|skin(1)	7						AACCTGCCCAACAATAGCCTG	0.498																																							uc009xtm.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(337-339)AAC>ATC		lipase, family member M precursor							131.0	113.0	119.0					10																	90572926		692	1591	2283	SO:0001583	missense	340654				lipid catabolic process	extracellular region	hydrolase activity	g.chr10:90572926A>T		CCDS44457.1	10q23.31	2008-02-04	2007-02-27	2007-02-27	ENSG00000173239	ENSG00000173239			23455	protein-coding gene	gene with protein product		613923	"""lipase-like, ab-hydrolase domain containing 3"""	LIPL3			Standard	NM_001128215		Approved	bA304I5.1	uc009xtm.1	Q5VYY2	OTTHUMG00000018698	ENST00000404743.4:c.338A>T	10.37:g.90572926A>T	ENSP00000383901:p.Asn113Ile					LIPM_uc009xtn.1_Missense_Mutation_p.N88I	p.N113I	NM_001128215	NP_001121687	Q5VYY2	LIPM_HUMAN			3	505	+			113					A6PVS3|B2RXK7|B5MCR3	Missense_Mutation	SNP	ENST00000404743.4	37	c.338A>T	CCDS44457.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.371424	0.82573	.	.	ENSG00000173239	ENST00000404743;ENST00000539337	T;T	0.71341	-0.56;-0.56	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000001	D	0.89171	0.6639	H	0.97829	4.085	0.37374	D	0.91175	P;D	0.58970	0.937;0.984	P;P	0.60473	0.743;0.875	D	0.94454	0.7670	10	0.87932	D	0	-24.4051	16.0067	0.80367	1.0:0.0:0.0:0.0	.	73;113	B2RXK7;Q5VYY2	.;LIPM_HUMAN	I	113;73	ENSP00000383901:N113I;ENSP00000440375:N73I	ENSP00000383901:N113I	N	+	2	0	LIPM	90562906	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.048000	0.64238	2.261000	0.74972	0.533000	0.62120	AAC		0.498	LIPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049261.3	XM_291663		5	16	0	0	0	0.014758	0	5	16				
CEP55	55165	broad.mit.edu	37	10	95263113	95263113	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:95263113G>C	ENST00000371485.3	+	3	731	c.427G>C	c.(427-429)Gaa>Caa	p.E143Q		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	143					establishment of protein localization (GO:0045184)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|midbody (GO:0030496)		p.E143Q(2)		kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				TGCTGAACTTGAAAGCAAAAC	0.383																																							uc009xug.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(427-429)GAA>CAA		centrosomal protein 55kDa							156.0	138.0	144.0					10																	95263113		2203	4300	6503	SO:0001583	missense	55165				cell division|mitosis	centriole|cleavage furrow|midbody		g.chr10:95263113G>C	AK001402	CCDS7428.1	10q24.1	2014-02-20	2005-12-01	2005-12-01	ENSG00000138180	ENSG00000138180			1161	protein-coding gene	gene with protein product	"""cancer/testis antigen 111"""	610000	"""chromosome 10 open reading frame 3"""	C10orf3		16198290	Standard	NM_018131		Approved	FLJ10540, CT111	uc009xug.3	Q53EZ4	OTTHUMG00000018774	ENST00000371485.3:c.427G>C	10.37:g.95263113G>C	ENSP00000360540:p.Glu143Gln					CEP55_uc001kiq.3_Missense_Mutation_p.E143Q	p.E143Q	NM_001127182	NP_001120654	Q53EZ4	CEP55_HUMAN			3	609	+		Colorectal(252;0.207)	143			Potential.		B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Missense_Mutation	SNP	ENST00000371485.3	37	c.427G>C	CCDS7428.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917658	0.73098	.	.	ENSG00000138180	ENST00000371485;ENST00000358339	T	0.23754	1.89	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.50582	0.1624	M	0.68952	2.095	0.49915	D	0.99983	D	0.89917	1.0	D	0.80764	0.994	T	0.49153	-0.8969	10	0.62326	D	0.03	-22.1339	17.2456	0.87027	0.0:0.0:1.0:0.0	.	143	Q53EZ4	CEP55_HUMAN	Q	143	ENSP00000360540:E143Q	ENSP00000351102:E143Q	E	+	1	0	CEP55	95253103	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	4.017000	0.57167	2.659000	0.90383	0.655000	0.94253	GAA		0.383	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049434.1	NM_018131		22	104	0	0	0	0.016522	0	22	104				
CC2D2B	387707	broad.mit.edu	37	10	97779094	97779094	+	Splice_Site	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:97779094T>C	ENST00000344386.3	+	7	821	c.657T>C	c.(655-657)aaT>aaC	p.N219N	ENTPD1-AS1_ENST00000451364.1_RNA|CC2D2B_ENST00000410012.2_Splice_Site_p.N219N|ENTPD1-AS1_ENST00000449197.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron|CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	219								p.N219N(4)		large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		ATGATAGAAATGTAAGTATAT	0.358																																							uc001kll.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(1)	1						c.(655-657)AAT>AAC		coiled-coil and C2 domain containing 2B isoform							111.0	109.0	109.0					10																	97779094		1833	4078	5911	SO:0001630	splice_region_variant	387707							g.chr10:97779094T>C	BC075861	CCDS41555.1, CCDS53560.1	10q23.33	2008-11-06	2007-10-19	2007-10-19	ENSG00000188649	ENSG00000188649			31666	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 130"""	C10orf130			Standard	NM_001001732		Approved	bA248J23.4	uc010qop.2	Q6DHV5	OTTHUMG00000018820	ENST00000344386.3:c.657+1T>C	10.37:g.97779094T>C						uc001klg.1_Intron|uc001klj.1_Intron|CC2D2B_uc001klk.2_Intron|CC2D2B_uc010qop.1_Silent_p.N219N|uc009xvb.1_RNA	p.N219N	NM_001001732	NP_001001732	Q6DHV5	C2D2B_HUMAN		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)	7	856	+		Colorectal(252;0.158)	219					A2A3E9|B4DYD4|E9PCC3|Q5VUS0	Silent	SNP	ENST00000344386.3	37	c.657T>C	CCDS41555.1																																																																																				0.358	CC2D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049573.3	NM_001001732	Silent	15	97	0	0	0	0.020292	0	15	97				
PDCD11	22984	broad.mit.edu	37	10	105194078	105194078	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:105194078C>G	ENST00000369797.3	+	24	3732	c.3638C>G	c.(3637-3639)tCc>tGc	p.S1213C		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1213	S1 motif 10. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.S1213C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CCAGATTCCTCCAAGACCCTC	0.552																																							uc001kwy.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7						c.(3637-3639)TCC>TGC		programmed cell death 11							100.0	103.0	102.0					10																	105194078		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105194078C>G	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.3638C>G	10.37:g.105194078C>G	ENSP00000358812:p.Ser1213Cys						p.S1213C	NM_014976	NP_055791	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	24	3725	+		Colorectal(252;0.0747)|Breast(234;0.128)	1213			S1 motif 10.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.3638C>G	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.418079	0.42918	.	.	ENSG00000148843	ENST00000369797	T	0.18502	2.21	5.23	4.33	0.51752	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (1);	0.498133	0.23704	N	0.045399	T	0.16385	0.0394	L	0.40543	1.245	0.26785	N	0.969521	B	0.10296	0.003	B	0.06405	0.002	T	0.13282	-1.0515	10	0.62326	D	0.03	-5.0003	13.7447	0.62868	0.0:0.8466:0.1534:0.0	.	1213	Q14690	RRP5_HUMAN	C	1213	ENSP00000358812:S1213C	ENSP00000358812:S1213C	S	+	2	0	PDCD11	105184068	0.009000	0.17119	1.000000	0.80357	0.884000	0.51177	1.037000	0.30241	1.340000	0.45581	0.561000	0.74099	TCC		0.552	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			9	211	0	0	0	0.006214	0	9	211				
CALHM1	255022	broad.mit.edu	37	10	105218247	105218247	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:105218247G>T	ENST00000329905.5	-	1	398	c.262C>A	c.(262-264)Cgc>Agc	p.R88S	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	88					ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244)	p.R88S(1)		large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						TTGGCCCGGCGGCCCAGCGGC	0.662																																							uc001kxe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(262-264)CGC>AGC		calcium homeostasis modulator 1							21.0	27.0	25.0					10																	105218247		2202	4297	6499	SO:0001583	missense	255022					endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding	g.chr10:105218247G>T	BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933			23494	protein-coding gene	gene with protein product		612234	"""family with sequence similarity 26, member C"""	FAM26C		18585350	Standard	NM_001001412		Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.262C>A	10.37:g.105218247G>T	ENSP00000329926:p.Arg88Ser						p.R88S	NM_001001412	NP_001001412	Q8IU99	CAHM1_HUMAN			1	402	-			88					Q5W091	Missense_Mutation	SNP	ENST00000329905.5	37	c.262C>A	CCDS7550.1	.	.	.	.	.	.	.	.	.	.	G	8.841	0.942227	0.18281	.	.	ENSG00000185933	ENST00000329905	T	0.16743	2.32	5.41	5.41	0.78517	.	0.380543	0.30068	N	0.010492	T	0.13030	0.0316	L	0.29908	0.895	0.30869	N	0.732682	B	0.17852	0.024	B	0.22601	0.04	T	0.10268	-1.0637	10	0.13108	T	0.6	-30.6043	13.1897	0.59702	0.0:0.0:0.8407:0.1593	.	88	Q8IU99	CAHM1_HUMAN	S	88	ENSP00000329926:R88S	ENSP00000329926:R88S	R	-	1	0	CALHM1	105208237	0.359000	0.24955	0.997000	0.53966	0.523000	0.34469	1.528000	0.35985	2.539000	0.85634	0.491000	0.48974	CGC		0.662	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050165.1	NM_001001412		9	32	1	0	3.07112e-06	0.010729	3.33023e-06	9	32				
COL17A1	1308	broad.mit.edu	37	10	105797421	105797421	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:105797421C>T	ENST00000353479.5	-	46	3471	c.3181G>A	c.(3181-3183)Gca>Aca	p.A1061T	COL17A1_ENST00000369733.3_Missense_Mutation_p.A1016T	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1061	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ACGTGGCTTGCCAGCTCTGAG	0.592																																							uc001kxr.2		NA																	0				ovary(4)|pancreas(1)	5						c.(3181-3183)GCA>ACA		alpha 1 type XVII collagen							111.0	105.0	107.0					10																	105797421		2203	4300	6503	SO:0001583	missense	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105797421C>T	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.3181G>A	10.37:g.105797421C>T	ENSP00000340937:p.Ala1061Thr						p.A1061T	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	46	3350	-		Colorectal(252;0.103)|Breast(234;0.122)	1061			Extracellular (Potential).|Triple-helical region.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	c.3181G>A	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.609729	0.46527	.	.	ENSG00000065618	ENST00000353479;ENST00000369733	D;D	0.93366	-3.21;-3.16	5.27	4.36	0.52297	.	0.000000	0.46442	D	0.000287	D	0.93229	0.7843	L	0.52266	1.64	0.80722	D	1	D	0.62365	0.991	P	0.56042	0.79	D	0.90686	0.4609	10	0.19147	T	0.46	-11.1245	13.1391	0.59424	0.1605:0.8395:0.0:0.0	.	1061	Q9UMD9	COHA1_HUMAN	T	1061;1016	ENSP00000340937:A1061T;ENSP00000358748:A1016T	ENSP00000340937:A1061T	A	-	1	0	COL17A1	105787411	1.000000	0.71417	0.986000	0.45419	0.031000	0.12232	3.055000	0.49916	1.179000	0.42884	0.561000	0.74099	GCA		0.592	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		4	110	0	0	0	0.009096	0	4	110				
CFAP43	80217	broad.mit.edu	37	10	105903388	105903388	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:105903388T>G	ENST00000357060.3	-	32	4069	c.3954A>C	c.(3952-3954)aaA>aaC	p.K1318N	WDR96_ENST00000479392.1_5'Flank|WDR96_ENST00000428666.1_Missense_Mutation_p.K1290N	NM_025145.5	NP_079421.5												p.K1318N(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCGTTTTCTGTTTGGAAATCC	0.413																																							uc001kxw.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(3952-3954)AAA>AAC		hypothetical protein LOC80217							90.0	89.0	89.0					10																	105903388		2203	4300	6503	SO:0001583	missense	80217							g.chr10:105903388T>G																												ENST00000357060.3:c.3954A>C	10.37:g.105903388T>G	ENSP00000349568:p.Lys1318Asn					C10orf79_uc009xxq.2_Missense_Mutation_p.K597N	p.K1318N	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)	32	4070	-		Colorectal(252;0.178)	1318						Missense_Mutation	SNP	ENST00000357060.3	37	c.3954A>C	CCDS31281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.04|13.04	2.118831|2.118831	0.37436|0.37436	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000357060;ENST00000428666|ENST00000457071;ENST00000434629	T;T|.	0.16457|.	2.34;2.42|.	6.16|6.16	2.11|2.11	0.27256|0.27256	.|.	0.194696|.	0.53938|.	D|.	0.000052|.	T|T	0.42765|0.42765	0.1217|0.1217	M|M	0.62723|0.62723	1.935|1.935	0.19575|0.19575	N|N	0.999961|0.999961	B;P|.	0.52463|.	0.38;0.953|.	B;P|.	0.55713|.	0.339;0.782|.	T|T	0.32745|0.32745	-0.9895|-0.9895	10|5	0.48119|.	T|.	0.1|.	.|.	4.9729|4.9729	0.14125|0.14125	0.0:0.3465:0.1574:0.4961|0.0:0.3465:0.1574:0.4961	.|.	1290;1318|.	G5E9L1;Q8NDM7|.	.;WDR96_HUMAN|.	N|T	1318;1290|167;650	ENSP00000349568:K1318N;ENSP00000400289:K1290N|.	ENSP00000349568:K1318N|.	K|N	-|-	3|2	2|0	WDR96|WDR96	105893378|105893378	0.984000|0.984000	0.35163|0.35163	0.973000|0.973000	0.42090|0.42090	0.117000|0.117000	0.20001|0.20001	0.728000|0.728000	0.26013|0.26013	0.538000|0.538000	0.28769|0.28769	-0.417000|-0.417000	0.06048|0.06048	AAA|AAC		0.413	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				13	43	0	0	0	0.013537	0	13	43				
VTI1A	143187	broad.mit.edu	37	10	114428028	114428028	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:114428028T>A	ENST00000393077.2	+	6	595	c.479T>A	c.(478-480)aTa>aAa	p.I160K	VTI1A_ENST00000432306.1_Missense_Mutation_p.I160K	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	160					intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNAP receptor activity (GO:0005484)	p.I160K(2)	VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		AGAGAAAAGATACAGCGAGCA	0.358			T	TCF7L2	colorectal																																		uc001kzy.2		NA		Dom	yes		10	10q25.2	143187		vesicle transport through interaction with t-SNAREs homolog 1A			E					2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(478-480)ATA>AAA		SNARE Vti1a-beta protein							113.0	103.0	106.0					10																	114428028		2203	4299	6502	SO:0001583	missense	143187				intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity	g.chr10:114428028T>A	BC017052	CCDS7575.2	10q25.2	2012-12-10	2012-12-10		ENSG00000151532	ENSG00000151532			17792	protein-coding gene	gene with protein product		614316	"""vesicle transport through interaction with t-SNAREs homolog 1A (yeast)"""			9446565	Standard	NM_145206		Approved	MVti1, Vti1a, Vti1-rp2	uc001kzz.3	Q96AJ9	OTTHUMG00000019063	ENST00000393077.2:c.479T>A	10.37:g.114428028T>A	ENSP00000376792:p.Ile160Lys					VTI1A_uc001kzz.2_Missense_Mutation_p.I160K	p.I160K	NM_145206	NP_660207	Q96AJ9	VTI1A_HUMAN		Epithelial(162;0.0126)|all cancers(201;0.0487)	6	855	+		Colorectal(252;0.0314)|Breast(234;0.183)	160			Potential.		A2A307|B4E137|Q5W0D7	Missense_Mutation	SNP	ENST00000393077.2	37	c.479T>A	CCDS7575.2	.	.	.	.	.	.	.	.	.	.	T	21.9	4.222794	0.79464	.	.	ENSG00000151532	ENST00000393077;ENST00000432306	T;T	0.78246	-1.16;-1.16	5.74	4.6	0.57074	Target SNARE coiled-coil domain (1);	0.160926	0.51477	D	0.000091	D	0.89522	0.6739	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.90761	0.4665	10	0.87932	D	0	-39.269	11.6824	0.51466	0.0:0.069:0.0:0.931	.	160;160	Q5W0D7;Q96AJ9	.;VTI1A_HUMAN	K	160	ENSP00000376792:I160K;ENSP00000395017:I160K	ENSP00000376792:I160K	I	+	2	0	VTI1A	114418018	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.097000	0.76967	1.116000	0.41820	0.459000	0.35465	ATA		0.358	VTI1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050397.2			8	36	0	0	0	0.004482	0	8	36				
TCF7L2	6934	broad.mit.edu	37	10	114925681	114925681	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:114925681G>T	ENST00000355995.4	+	15	2317	c.1810G>T	c.(1810-1812)Gcc>Tcc	p.A604S	TCF7L2_ENST00000542695.1_Missense_Mutation_p.A320S|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000369397.4_Missense_Mutation_p.A581S|TCF7L2_ENST00000536810.1_Missense_Mutation_p.A587S|TCF7L2_ENST00000545257.1_Missense_Mutation_p.A604S|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000543371.1_Missense_Mutation_p.A587S|TCF7L2_ENST00000355717.4_3'UTR			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	604					blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|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)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A581S(2)|p.A587S(2)	VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CAGCTCCCTGGCCGGGACCCA	0.587			T	VTI1A	colorectal																																		uc001lae.3		NA		Dom	yes		10	10q25.3	6934		transcription factor 7-like 2			E					4	Substitution - Missense(4)		lung(4)	large_intestine(3)|ovary(1)	4						c.(1759-1761)GCC>TCC		transcription factor 7-like 2 isoform 1							40.0	46.0	44.0					10																	114925681		2201	4300	6501	SO:0001583	missense	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114925681G>T	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1810G>T	10.37:g.114925681G>T	ENSP00000348274:p.Ala604Ser					TCF7L2_uc001lac.3_Missense_Mutation_p.A581S|TCF7L2_uc010qrk.1_3'UTR|TCF7L2_uc010qrl.1_Missense_Mutation_p.A564S|TCF7L2_uc010qrm.1_3'UTR|TCF7L2_uc010qrn.1_3'UTR|TCF7L2_uc001lad.3_3'UTR|TCF7L2_uc001lag.3_3'UTR|TCF7L2_uc001laf.3_Missense_Mutation_p.A564S|TCF7L2_uc010qro.1_3'UTR|TCF7L2_uc001lah.2_3'UTR|TCF7L2_uc010qrp.1_3'UTR|TCF7L2_uc010qrq.1_3'UTR|TCF7L2_uc010qrr.1_Missense_Mutation_p.A519S|TCF7L2_uc010qrs.1_Missense_Mutation_p.A475S|TCF7L2_uc010qrt.1_Missense_Mutation_p.A475S|TCF7L2_uc010qru.1_3'UTR|TCF7L2_uc010qrv.1_3'UTR|TCF7L2_uc010qrw.1_3'UTR|TCF7L2_uc010qrx.1_3'UTR	p.A587S	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	14	2266	+		Breast(234;0.058)|Colorectal(252;0.0615)	604					B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	ENST00000355995.4	37	c.1759G>T		.	.	.	.	.	.	.	.	.	.	G	14.19	2.461571	0.43736	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000543371;ENST00000536810;ENST00000369397;ENST00000542695	D;D;D;D;D;D	0.98512	-4.94;-4.94;-4.95;-4.97;-4.95;-4.95	5.26	2.36	0.29203	.	0.266637	0.31772	N	0.007100	D	0.97031	0.9030	L	0.34521	1.04	0.39066	D	0.960624	P;P;P;B;B;B;B	0.44690	0.682;0.841;0.77;0.043;0.104;0.264;0.104	B;P;B;B;B;B;B	0.57204	0.132;0.815;0.247;0.04;0.058;0.124;0.058	D	0.95384	0.8475	10	0.59425	D	0.04	-5.5476	8.0698	0.30682	0.1373:0.2431:0.6196:0.0	.	604;475;519;564;564;587;581	Q9NQB0;C6ZRK4;C6ZRJ6;C6ZRJ8;C6ZRK5;Q9NQB0-7;Q6FHW4	TF7L2_HUMAN;.;.;.;.;.;.	S	604;604;587;587;581;320	ENSP00000348274:A604S;ENSP00000440547:A604S;ENSP00000444972:A587S;ENSP00000446238:A587S;ENSP00000358404:A581S;ENSP00000443883:A320S	ENSP00000348274:A604S	A	+	1	0	TCF7L2	114915671	1.000000	0.71417	0.997000	0.53966	0.941000	0.58515	2.644000	0.46613	0.211000	0.20683	0.563000	0.77884	GCC		0.587	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		18	66	1	0	6.94344e-10	0.006122	7.97022e-10	18	66				
ATRNL1	26033	broad.mit.edu	37	10	117040877	117040877	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:117040877T>A	ENST00000355044.3	+	14	2239	c.2113T>A	c.(2113-2115)Tac>Aac	p.Y705N		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	705	PSI 2.				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.Y705N(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)		TGTCAAGAACTACACCAAATG	0.353																																							uc001lcg.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)	7						c.(2113-2115)TAC>AAC		attractin-like 1 precursor							80.0	75.0	77.0					10																	117040877		2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117040877T>A	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.2113T>A	10.37:g.117040877T>A	ENSP00000347152:p.Tyr705Asn						p.Y705N	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)	14	2499	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	705			PSI 2.|Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.2113T>A	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	T	18.14	3.557415	0.65425	.	.	ENSG00000107518	ENST00000355044	T	0.13901	2.55	5.64	5.64	0.86602	C-type lectin-like (1);	0.104276	0.64402	D	0.000002	T	0.15089	0.0364	L	0.54323	1.7	0.80722	D	1	P	0.34462	0.454	B	0.24974	0.057	T	0.01553	-1.1326	10	0.56958	D	0.05	-19.7695	15.8714	0.79122	0.0:0.0:0.0:1.0	.	705	Q5VV63	ATRN1_HUMAN	N	705	ENSP00000347152:Y705N	ENSP00000347152:Y705N	Y	+	1	0	ATRNL1	117030867	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.442000	0.80503	2.144000	0.66660	0.533000	0.62120	TAC		0.353	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		23	46	0	0	0	0.012319	0	23	46				
PNLIPRP3	119548	broad.mit.edu	37	10	118203902	118203902	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:118203902A>G	ENST00000369230.3	+	4	479	c.333A>G	c.(331-333)ctA>ctG	p.L111L		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	111					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)	p.L111L(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AGGTGTTGCTACAGCTGGAAG	0.358																																							uc001lcl.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(331-333)CTA>CTG		pancreatic lipase-related protein 3 precursor							82.0	77.0	79.0					10																	118203902		2203	4300	6503	SO:0001819	synonymous_variant	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118203902A>G	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.333A>G	10.37:g.118203902A>G							p.L111L	NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	4	434	+			111						Silent	SNP	ENST00000369230.3	37	c.333A>G	CCDS31292.1																																																																																				0.358	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		10	37	0	0	0	0.008291	0	10	37				
C10orf120	399814	broad.mit.edu	37	10	124457832	124457832	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:124457832A>T	ENST00000329446.4	-	3	456	c.425T>A	c.(424-426)aTa>aAa	p.I142K		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	142								p.I142K(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TGCTGTCCATATTTTTTCTAG	0.458																																							uc001lgn.2		NA																	1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(424-426)ATA>AAA		hypothetical protein LOC399814							117.0	122.0	120.0					10																	124457832		2203	4300	6503	SO:0001583	missense	399814							g.chr10:124457832A>T		CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.425T>A	10.37:g.124457832A>T	ENSP00000331012:p.Ile142Lys						p.I142K	NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN			3	457	-		all_neural(114;0.169)|Glioma(114;0.222)	142					B2RU17	Missense_Mutation	SNP	ENST00000329446.4	37	c.425T>A	CCDS31302.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.03|17.03	3.283789|3.283789	0.59867|0.59867	.|.	.|.	ENSG00000183559|ENSG00000183559	ENST00000329446|ENST00000432000	T|.	0.32272|.	1.46|.	4.71|4.71	2.45|2.45	0.29901|0.29901	.|.	0.912023|.	0.09279|.	N|.	0.824029|.	T|T	0.35970|0.35970	0.0950|0.0950	L|L	0.44542|0.44542	1.39|1.39	0.23168|0.23168	N|N	0.998186|0.998186	D|.	0.53745|.	0.962|.	P|.	0.52481|.	0.7|.	T|T	0.22068|0.22068	-1.0227|-1.0227	10|5	0.12430|.	T|.	0.62|.	-6.8338|-6.8338	5.5087|5.5087	0.16868|0.16868	0.7853:0.0:0.2147:0.0|0.7853:0.0:0.2147:0.0	.|.	142|.	Q5SQS8|.	CJ120_HUMAN|.	K|N	142|135	ENSP00000331012:I142K|.	ENSP00000331012:I142K|.	I|Y	-|-	2|1	0|0	C10orf120|C10orf120	124447822|124447822	0.002000|0.002000	0.14202|0.14202	0.087000|0.087000	0.20705|0.20705	0.306000|0.306000	0.27790|0.27790	0.515000|0.515000	0.22801|0.22801	0.946000|0.946000	0.37632|0.37632	0.491000|0.491000	0.48974|0.48974	ATA|TAT		0.458	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1	NM_001010912		10	173	0	0	0	0.006214	0	10	173				
MKI67	4288	broad.mit.edu	37	10	129907466	129907466	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:129907466C>A	ENST00000368654.3	-	13	3013	c.2638G>T	c.(2638-2640)Gag>Tag	p.E880*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.E520*|MKI67_ENST00000484853.1_5'Flank	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	880					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.E880*(2)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTCCTGAACTCTGTAGACCTT	0.403																																							uc001lke.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(4)|central_nervous_system(2)|skin(1)	7						c.(2638-2640)GAG>TAG		antigen identified by monoclonal antibody Ki-67							234.0	221.0	225.0					10																	129907466		2203	4300	6503	SO:0001587	stop_gained	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129907466C>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.2638G>T	10.37:g.129907466C>A	ENSP00000357643:p.Glu880*					MKI67_uc001lkf.2_Nonsense_Mutation_p.E520*|MKI67_uc009yav.1_Nonsense_Mutation_p.E455*|MKI67_uc009yaw.1_Nonsense_Mutation_p.E30*	p.E880*	NM_002417	NP_002408	P46013	KI67_HUMAN			13	2833	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	880					Q5VWH2	Nonsense_Mutation	SNP	ENST00000368654.3	37	c.2638G>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	41	8.790594	0.98954	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	.	.	.	3.67	3.67	0.42095	.	0.492415	0.16020	N	0.233335	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	11.0767	0.48036	0.0:1.0:0.0:0.0	.	.	.	.	X	880;520;879	.	ENSP00000357642:E520X	E	-	1	0	MKI67	129797456	0.028000	0.19301	0.134000	0.22075	0.008000	0.06430	1.312000	0.33574	2.049000	0.60858	0.563000	0.77884	GAG		0.403	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		58	180	1	0	6.25564e-26	0.01441	8.29852e-26	58	180				
STK32C	282974	broad.mit.edu	37	10	134059451	134059451	+	Missense_Mutation	SNP	C	C	A	rs142282211		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:134059451C>A	ENST00000368625.4	-	2	395	c.310G>T	c.(310-312)Gac>Tac	p.D104Y	STK32C_ENST00000368622.1_5'UTR					serine/threonine kinase 32C									p.D104Y(2)|p.D91Y(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		TGGAAGTGGTCGAAGTTCACT	0.637																																							uc001lle.1		NA																	4	Substitution - Missense(4)		lung(4)	large_intestine(2)|lung(2)|breast(1)	5						c.(271-273)GAC>TAC		serine/threonine kinase 32C		C	TYR/ASP	0,4406		0,0,2203	90.0	78.0	82.0		271	4.3	1.0	10	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	no	missense	STK32C	NM_173575.2	160	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	91/487	134059451	1,13005	2203	4300	6503	SO:0001583	missense	282974						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr10:134059451C>A	AK057849	CCDS7666.1	10q26.3	2004-07-22			ENSG00000165752	ENSG00000165752			21332	protein-coding gene	gene with protein product							Standard	NM_173575		Approved	PKE, MGC23665, YANK3	uc001lle.1	Q86UX6	OTTHUMG00000019285	ENST00000368625.4:c.310G>T	10.37:g.134059451C>A	ENSP00000357614:p.Asp104Tyr					STK32C_uc001lld.1_5'UTR|STK32C_uc010quu.1_Missense_Mutation_p.D104Y|STK32C_uc009ybc.1_5'UTR|STK32C_uc009ybd.1_5'UTR|STK32C_uc001llc.1_RNA	p.D91Y	NM_173575	NP_775846	Q86UX6	ST32C_HUMAN		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)	2	411	-		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)	91						Missense_Mutation	SNP	ENST00000368625.4	37	c.271G>T		.	.	.	.	.	.	.	.	.	.	C	9.850	1.193405	0.22037	0.0	1.16E-4	ENSG00000165752	ENST00000298630;ENST00000368625;ENST00000368620	T;T	0.27890	1.64;1.64	4.34	4.34	0.51931	Protein kinase-like domain (1);	.	.	.	.	T	0.42245	0.1194	L	0.32530	0.975	0.42261	D	0.99201	D;B	0.89917	1.0;0.294	D;B	0.74674	0.984;0.167	T	0.28364	-1.0046	9	0.54805	T	0.06	.	12.5513	0.56227	0.0:1.0:0.0:0.0	.	104;91	B7Z7J1;Q86UX6	.;ST32C_HUMAN	Y	91;104;141	ENSP00000298630:D91Y;ENSP00000357614:D104Y	ENSP00000298630:D91Y	D	-	1	0	STK32C	133909441	1.000000	0.71417	0.966000	0.40874	0.818000	0.46254	3.064000	0.49986	2.422000	0.82143	0.655000	0.94253	GAC		0.637	STK32C-201	KNOWN	basic	protein_coding	protein_coding		NM_173575		22	59	1	0	2.98393e-07	0.016522	3.30891e-07	22	59				
INPP5A	3632	broad.mit.edu	37	10	134459432	134459432	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr10:134459432A>C	ENST00000368594.3	+	3	455	c.178A>C	c.(178-180)Aac>Cac	p.N60H	INPP5A_ENST00000368593.3_Missense_Mutation_p.N60H	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	60					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		TGGAGGGAAGAACTACGAGGC	0.607																																					Pancreas(63;823 1267 11107 20380 51626)	Pancreas(63;823 1267 11107 20380 51626)	uc001llp.2		NA																	0				skin(1)	1						c.(178-180)AAC>CAC		inositol polyphosphate-5-phosphatase A							159.0	96.0	117.0					10																	134459432		2203	4300	6503	SO:0001583	missense	3632				cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	g.chr10:134459432A>C	X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"""CTCL tumor antigen HD-CL-02"", ""43 kDa inositol polyphosphate 5-phophatase"", ""inositol polyphosphate 5-phophatase, 40kDa"", ""InsP3 5-phosphatase"", ""type I inositol-1,4,5-trisphosphate 5-phosphatase"""	600106	"""inositol polyphosphate-5-phosphatase, 40kD"""			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.178A>C	10.37:g.134459432A>C	ENSP00000357583:p.Asn60His					INPP5A_uc001llo.1_Missense_Mutation_p.N60H|INPP5A_uc001llq.2_Missense_Mutation_p.N12H	p.N60H	NM_005539	NP_005530	Q14642	I5P1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)	3	426	+		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)	60					D3DXI3|Q14640|Q5JSF1	Missense_Mutation	SNP	ENST00000368594.3	37	c.178A>C	CCDS7669.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.8|21.8	4.198129|4.198129	0.79015|0.79015	.|.	.|.	ENSG00000068383|ENSG00000068383	ENST00000342652|ENST00000368594;ENST00000368593;ENST00000416326;ENST00000368595;ENST00000451873	.|T;T	.|0.46063	.|0.88;0.88	4.31|4.31	4.31|4.31	0.51392|0.51392	.|Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	.|0.102527	.|0.64402	.|D	.|0.000004	T|T	0.59810|0.59810	0.2221|0.2221	L|L	0.59436|0.59436	1.845|1.845	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D	.|0.89917	.|0.994;0.999;1.0	.|D;D;D	.|0.91635	.|0.936;0.998;0.999	T|T	0.63616|0.63616	-0.6597|-0.6597	5|10	.|0.66056	.|D	.|0.02	-20.8342|-20.8342	13.948|13.948	0.64099|0.64099	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|60;60;60	.|F5GWM1;Q14642;Q5T1B5	.|.;I5P1_HUMAN;.	A|H	31|60;60;60;60;56	.|ENSP00000357583:N60H;ENSP00000357582:N60H	.|ENSP00000357582:N60H	E|N	+|+	2|1	0|0	INPP5A|INPP5A	134309422|134309422	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.722000|7.722000	0.84778|0.84778	1.919000|1.919000	0.55581|0.55581	0.533000|0.533000	0.62120|0.62120	GAA|AAC		0.607	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1	NM_005539		5	45	0	0	0	0.001168	0	5	45				
OR51E1	143503	broad.mit.edu	37	11	4674113	4674113	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:4674113G>T	ENST00000396952.5	+	2	1007	c.357G>T	c.(355-357)ctG>ctT	p.L119L	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L118L(2)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGTGCTGCTGGCCATGGCTT	0.517																																							uc001lzi.3		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(3)|pancreas(1)	4						c.(355-357)CTG>CTT		olfactory receptor, family 51, subfamily E,							113.0	84.0	94.0					11																	4674113		2201	4298	6499	SO:0001819	synonymous_variant	143503				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4674113G>T	AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"""GPCR / Class A : Olfactory receptors"""	15194	protein-coding gene	gene with protein product		611267	"""olfactory receptor, family 51, subfamily E, member 1 pseudogene"""	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.357G>T	11.37:g.4674113G>T							p.L119L	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	501	+		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	118			Helical; Name=3; (Potential).		A8KAM6|Q5S4P5|Q66X57|Q6IF93	Silent	SNP	ENST00000396952.5	37	c.357G>T	CCDS31358.2																																																																																				0.517	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347136.2	NM_152430		23	93	1	0	2.89027e-11	0.014323	3.377e-11	23	93				
HBD	3045	broad.mit.edu	37	11	5255426	5255426	+	Missense_Mutation	SNP	G	G	T	rs34383555		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:5255426G>T	ENST00000380299.3	-	2	324	c.110C>A	c.(109-111)cCt>cAt	p.P37H	HBD_ENST00000292901.3_Missense_Mutation_p.P37H	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	37			P -> H (in Metaponto; dbSNP:rs34383555). {ECO:0000269|PubMed:12402333}.		blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.P37H(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGTCCAAGGGTAGACCAC	0.517																																							uc001maf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1	GRCh37	CM022795	HBD	M	rs34383555	c.(109-111)CCT>CAT		delta globin							91.0	90.0	90.0					11																	5255426		2201	4298	6499	SO:0001583	missense	3045				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5255426G>T	AY034468	CCDS31376.1	11p15.5	2012-10-02			ENSG00000223609	ENSG00000223609			4829	protein-coding gene	gene with protein product		142000				2649166	Standard	NM_000519		Approved		uc001maf.1	P02042	OTTHUMG00000066674	ENST00000380299.3:c.110C>A	11.37:g.5255426G>T	ENSP00000369654:p.Pro37His						p.P37H	NM_000519	NP_000510	P02042	HBD_HUMAN		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	305	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	37					Q3Y5H3|Q8WXT7	Missense_Mutation	SNP	ENST00000380299.3	37	c.110C>A	CCDS31376.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007334	0.54361	.	.	ENSG00000223609	ENST00000292901;ENST00000380299;ENST00000429817	D;D;D	0.99121	-4.02;-5.45;-4.02	4.45	3.51	0.40186	Globin-like (1);Globin, structural domain (1);	0.049799	0.85682	D	0.000000	D	0.99513	0.9826	H	0.98199	4.17	0.58432	D	0.999999	D	0.76494	0.999	D	0.79784	0.993	D	0.98231	1.0483	10	0.87932	D	0	-0.2202	11.9097	0.52733	0.088:0.0:0.912:0.0	rs34383555	37	P02042	HBD_HUMAN	H	37	ENSP00000292901:P37H;ENSP00000369654:P37H;ENSP00000393810:P37H	ENSP00000292901:P37H	P	-	2	0	HBD	5212002	1.000000	0.71417	0.043000	0.18650	0.523000	0.34469	4.899000	0.63245	1.188000	0.43014	0.585000	0.79938	CCT		0.517	HBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142970.1	NM_000519		42	122	1	0	1.57019e-19	0.007835	2.01808e-19	42	122				
OR56A4	120793	broad.mit.edu	37	11	6024118	6024118	+	Missense_Mutation	SNP	G	G	T	rs199693548		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:6024118G>T	ENST00000330728.4	-	1	306	c.261C>A	c.(259-261)agC>agA	p.S87R		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S87R(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		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)		GGAAGAGAAGGCTGAGGGGCA	0.592																																							uc010qzv.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(259-261)AGC>AGA		olfactory receptor, family 56, subfamily A,							80.0	76.0	78.0					11																	6024118		2201	4296	6497	SO:0001583	missense	120793				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6024118G>T	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"""GPCR / Class A : Olfactory receptors"""	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.261C>A	11.37:g.6024118G>T	ENSP00000328215:p.Ser87Arg						p.S87R	NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	261	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	35			Helical; Name=1; (Potential).		B9EH17	Missense_Mutation	SNP	ENST00000330728.4	37	c.261C>A	CCDS31404.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694812	0.48202	.	.	ENSG00000183389	ENST00000330728	T	0.19669	2.13	3.62	1.71	0.24356	.	0.539281	0.13652	U	0.372181	T	0.33673	0.0871	M	0.83312	2.635	0.29002	N	0.887394	P	0.46020	0.871	P	0.49192	0.602	T	0.24657	-1.0154	10	0.87932	D	0	.	6.548	0.22416	0.3195:0.0:0.6805:0.0	.	35	Q8NGH8	O56A4_HUMAN	R	87	ENSP00000328215:S87R	ENSP00000328215:S87R	S	-	3	2	OR56A4	5980694	0.006000	0.16342	0.997000	0.53966	0.780000	0.44128	0.341000	0.19909	0.326000	0.23384	-0.266000	0.10368	AGC		0.592	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		31	77	1	0	6.04164e-23	0.010818	7.92082e-23	31	77				
OR52B2	255725	broad.mit.edu	37	11	6190952	6190952	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:6190952A>G	ENST00000530810.1	-	1	686	c.605T>C	c.(604-606)tTc>tCc	p.F202S	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F202S(4)		NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGCACTGAGAAGCCATACCA	0.488																																					NSCLC(5;186 261 1778 7098 14207)	NSCLC(5;186 261 1778 7098 14207)	uc010qzy.1		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(604-606)TTC>TCC		olfactory receptor, family 52, subfamily B,							55.0	55.0	55.0					11																	6190952		2082	4213	6295	SO:0001583	missense	255725				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6190952A>G	AB065763	CCDS53598.1	11p15.4	2012-08-09				ENSG00000255307		"""GPCR / Class A : Olfactory receptors"""	15207	protein-coding gene	gene with protein product							Standard	NM_001004052		Approved		uc010qzy.2	Q96RD2		ENST00000530810.1:c.605T>C	11.37:g.6190952A>G	ENSP00000432011:p.Phe202Ser						p.F202S	NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	605	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	202			Helical; Name=5; (Potential).		Q8NGM7	Missense_Mutation	SNP	ENST00000530810.1	37	c.605T>C	CCDS53598.1	.	.	.	.	.	.	.	.	.	.	A	19.48	3.836068	0.71373	.	.	ENSG00000255307	ENST00000530810	T	0.00174	8.62	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00666	0.0022	M	0.85945	2.785	0.32269	N	0.569082	D	0.89917	1.0	D	0.91635	0.999	T	0.48019	-0.9071	9	0.87932	D	0	.	14.6097	0.68507	1.0:0.0:0.0:0.0	.	202	Q96RD2	O52B2_HUMAN	S	202	ENSP00000432011:F202S	ENSP00000432011:F202S	F	-	2	0	OR52B2	6147528	0.983000	0.35010	1.000000	0.80357	0.985000	0.73830	7.055000	0.76656	2.235000	0.73313	0.450000	0.29827	TTC		0.488	OR52B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385977.1	NM_001004052		9	40	0	0	0	0.013537	0	9	40				
DCHS1	8642	broad.mit.edu	37	11	6661983	6661983	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:6661983C>A	ENST00000299441.3	-	2	1273	c.862G>T	c.(862-864)Ggg>Tgg	p.G288W		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	288	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.G288W(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)		GTCACAGCCCCATTGACACCA	0.592																																							uc001mem.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(1)|pancreas(1)	5						c.(862-864)GGG>TGG		dachsous 1 precursor							84.0	78.0	80.0					11																	6661983		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6661983C>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.862G>T	11.37:g.6661983C>A	ENSP00000299441:p.Gly288Trp						p.G288W	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1272	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	288			Extracellular (Potential).|Cadherin 3.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.862G>T	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.884867	0.72410	.	.	ENSG00000166341	ENST00000299441	T	0.53423	0.62	5.01	5.01	0.66863	Cadherin (4);Cadherin-like (1);	0.000000	0.47455	D	0.000237	T	0.79197	0.4405	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86585	0.1856	10	0.87932	D	0	.	17.3033	0.87188	0.0:1.0:0.0:0.0	.	288	Q96JQ0	PCD16_HUMAN	W	288	ENSP00000299441:G288W	ENSP00000299441:G288W	G	-	1	0	DCHS1	6618559	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.783000	0.85696	2.312000	0.78011	0.544000	0.68410	GGG		0.592	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		47	126	1	0	2.77807e-22	0.013114	3.62397e-22	47	126				
MRPL17	63875	broad.mit.edu	37	11	6704014	6704014	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:6704014G>C	ENST00000288937.6	-	2	311	c.207C>G	c.(205-207)aaC>aaG	p.N69K	MRPL17_ENST00000532676.1_5'Flank	NM_022061.3	NP_071344.1	Q9NRX2	RM17_HUMAN	mitochondrial ribosomal protein L17	69					translation (GO:0006412)	mitochondrial inner membrane (GO:0005743)|ribosome (GO:0005840)	protein domain specific binding (GO:0019904)|structural constituent of ribosome (GO:0003735)	p.N69K(2)		lung(4)	4		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGGCTCGTTCGTTAGTGTCTC	0.512																																							uc001men.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(205-207)AAC>AAG		mitochondrial ribosomal protein L17 precursor							100.0	88.0	92.0					11																	6704014		2201	4296	6497	SO:0001583	missense	63875				translation	ribosome	protein domain specific binding|structural constituent of ribosome	g.chr11:6704014G>C	AB051620	CCDS31412.1	11p15.5-p15.4	2012-09-13				ENSG00000158042		"""Mitochondrial ribosomal proteins / large subunits"""	14053	protein-coding gene	gene with protein product		611830					Standard	NM_022061		Approved	RPML26, MRP-L26	uc001men.2	Q9NRX2		ENST00000288937.6:c.207C>G	11.37:g.6704014G>C	ENSP00000288937:p.Asn69Lys						p.N69K	NM_022061	NP_071344	Q9NRX2	RM17_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	2	312	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	69					D3DQU3|Q6IAH8|Q96Q53|Q9C066	Missense_Mutation	SNP	ENST00000288937.6	37	c.207C>G	CCDS31412.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938712	0.73557	.	.	ENSG00000158042	ENST00000288937	.	.	.	5.81	1.87	0.25490	.	0.147080	0.64402	D	0.000011	T	0.64283	0.2584	L	0.58302	1.8	0.38098	D	0.937184	P	0.38280	0.625	P	0.55871	0.786	T	0.63391	-0.6648	9	0.59425	D	0.04	-19.6055	5.3541	0.16051	0.2394:0.1461:0.6145:0.0	.	69	Q9NRX2	RM17_HUMAN	K	69	.	ENSP00000288937:N69K	N	-	3	2	MRPL17	6660590	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	2.605000	0.46283	0.116000	0.18110	-0.929000	0.02709	AAC		0.512	MRPL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384544.1	NM_022061		18	45	0	0	0	0.016522	0	18	45				
OR6A2	8590	broad.mit.edu	37	11	6816486	6816486	+	Missense_Mutation	SNP	C	C	A	rs555709554	byFrequency	TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:6816486C>A	ENST00000332601.3	-	1	642	c.454G>T	c.(454-456)Ggc>Tgc	p.G152C		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	152					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G152C(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCCCAAGAGCCAGCAGCCATC	0.502																																							uc001mes.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(454-456)GGC>TGC		olfactory receptor, family 6, subfamily A,							72.0	70.0	71.0					11																	6816486		2201	4296	6497	SO:0001583	missense	8590				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6816486C>A	AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"""GPCR / Class A : Olfactory receptors"""	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.454G>T	11.37:g.6816486C>A	ENSP00000330384:p.Gly152Cys						p.G152C	NM_003696	NP_003687	O95222	OR6A2_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	654	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	152			Helical; Name=4; (Potential).		Q3MJC7|Q6IF35|Q9H206	Missense_Mutation	SNP	ENST00000332601.3	37	c.454G>T	CCDS7772.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752451	0.31046	.	.	ENSG00000184933	ENST00000332601	T	0.39056	1.1	5.07	3.16	0.36331	GPCR, rhodopsin-like superfamily (1);	0.216676	0.32161	N	0.006491	T	0.51261	0.1664	L	0.48877	1.53	0.18873	N	0.999989	D	0.71674	0.998	D	0.68621	0.959	T	0.34153	-0.9840	10	0.59425	D	0.04	.	8.1805	0.31307	0.1569:0.7595:0.0:0.0836	.	152	O95222	OR6A2_HUMAN	C	152	ENSP00000330384:G152C	ENSP00000330384:G152C	G	-	1	0	OR6A2	6773062	0.000000	0.05858	0.014000	0.15608	0.150000	0.21749	-0.256000	0.08757	0.819000	0.34492	0.655000	0.94253	GGC		0.502	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696		30	72	1	0	7.26314e-15	0.007291	8.89735e-15	30	72				
OR10A3	26496	broad.mit.edu	37	11	7961052	7961052	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:7961052G>A	ENST00000360759.3	-	1	89	c.16C>T	c.(16-18)Caa>Taa	p.Q6*		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	6					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.Q6*(2)		endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACACAGCTTTGATTTTGTCTT	0.403																																							uc010rbi.1		NA																	2	Substitution - Nonsense(2)		lung(2)	pancreas(1)	1						c.(16-18)CAA>TAA		olfactory receptor, family 10, subfamily A,							49.0	51.0	51.0					11																	7961052		2199	4296	6495	SO:0001587	stop_gained	26496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7961052G>A	BK004404	CCDS31421.1	11p15.4	2012-08-09			ENSG00000170683	ENSG00000170683		"""GPCR / Class A : Olfactory receptors"""	8162	protein-coding gene	gene with protein product						1370859	Standard	NM_001003745		Approved	HTPCRX12, HSHTPCRX12	uc010rbi.2	P58181	OTTHUMG00000165672	ENST00000360759.3:c.16C>T	11.37:g.7961052G>A	ENSP00000353988:p.Gln6*						p.Q6*	NM_001003745	NP_001003745	P58181	O10A3_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	16	-			6			Extracellular (Potential).		B9EH39|Q6IF58|Q96R11	Nonsense_Mutation	SNP	ENST00000360759.3	37	c.16C>T	CCDS31421.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688192	0.68271	.	.	ENSG00000170683	ENST00000360759	.	.	.	4.95	1.96	0.26148	.	0.373330	0.19165	U	0.121091	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	3.5109	0.07708	0.0894:0.3231:0.4206:0.1669	.	.	.	.	X	6	.	ENSP00000353988:Q6X	Q	-	1	0	OR10A3	7917628	0.000000	0.05858	0.978000	0.43139	0.678000	0.39670	-0.276000	0.08514	0.750000	0.32877	0.650000	0.86243	CAA		0.403	OR10A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385704.1	NM_001003745		45	85	0	0	0	0.009718	0	45	85				
FSHB	2488	broad.mit.edu	37	11	30255202	30255202	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:30255202C>A	ENST00000417547.1	+	3	284	c.245C>A	c.(244-246)cCc>cAc	p.P82H	FSHB_ENST00000533718.1_Missense_Mutation_p.P82H|FSHB_ENST00000254122.3_Missense_Mutation_p.P82H	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	82					cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|female pregnancy (GO:0007565)|follicle-stimulating hormone signaling pathway (GO:0042699)|peptide hormone processing (GO:0016486)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone biosynthetic process (GO:0006701)|regulation of osteoclast differentiation (GO:0045670)|Sertoli cell proliferation (GO:0060011)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)	p.P82H(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12						GTGAGAGTGCCCGGCTGTGCT	0.502																																							uc001msl.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(244-246)CCC>CAC		follicle stimulating hormone, beta polypeptide	Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)						111.0	94.0	100.0					11																	30255202		2202	4299	6501	SO:0001583	missense	2488				cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity	g.chr11:30255202C>A		CCDS7868.1	11p13	2013-02-26				ENSG00000131808		"""Endogenous ligands"""	3964	protein-coding gene	gene with protein product	"""follitropin, beta chain"", ""follicle-stimulating hormone beta subunit"""	136530				2885163, 3151250	Standard	NM_000510		Approved		uc001msm.3	P01225		ENST00000417547.1:c.245C>A	11.37:g.30255202C>A	ENSP00000416606:p.Pro82His					FSHB_uc001msm.2_Missense_Mutation_p.P82H|FSHB_uc001msn.2_Missense_Mutation_p.P82H	p.P82H	NM_000510	NP_000501	P01225	FSHB_HUMAN			3	314	+			82					A2TF08|A5JVV3|Q14D61	Missense_Mutation	SNP	ENST00000417547.1	37	c.245C>A	CCDS7868.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119041	0.77323	.	.	ENSG00000131808	ENST00000254122;ENST00000417547;ENST00000533718	D;D;D	0.84070	-1.8;-1.8;-1.8	6.17	6.17	0.99709	Cystine knot (1);	0.120329	0.64402	D	0.000019	D	0.93605	0.7958	M	0.91354	3.2	0.53688	D	0.999974	D	0.89917	1.0	D	0.97110	1.0	D	0.93518	0.6859	10	0.66056	D	0.02	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	82	P01225	FSHB_HUMAN	H	82	ENSP00000254122:P82H;ENSP00000416606:P82H;ENSP00000433424:P82H	ENSP00000254122:P82H	P	+	2	0	FSHB	30211778	0.997000	0.39634	0.994000	0.49952	0.926000	0.56050	3.760000	0.55235	2.941000	0.99782	0.655000	0.94253	CCC		0.502	FSHB-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389757.1	NM_000510		21	86	1	0	1.96292e-10	0.010504	2.26313e-10	21	86				
DCDC1	341019	broad.mit.edu	37	11	31312213	31312214	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:31312213_31312214CC>AA	ENST00000452803.1	-	7	1141_1142	c.940_941GG>TT	c.(940-942)GGa>TTa	p.G314L	DCDC1_ENST00000597505.1_Missense_Mutation_p.G314L	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	314					intracellular signal transduction (GO:0035556)			p.G314L(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TGTTTCTTTTCCCACTGTAATC	0.327																																							uc001msv.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(940-942)GGA>TTA		doublecortin domain containing 1																																				SO:0001583	missense	341019				intracellular signal transduction			g.chr11:31312213_31312214CC>AA	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.940_941delinsAA	11.37:g.31312213_31312214delinsAA	ENSP00000389792:p.Gly314Leu					DCDC1_uc001msu.1_Intron	p.G314L	NM_181807	NP_861523	P59894	DCDC1_HUMAN			7	1142_1143	-	Lung SC(675;0.225)		314					A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	DNP	ENST00000452803.1	37	c.940_941GG>TT	CCDS7872.1																																																																																				0.327	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316531.1	NM_181807		24	62	0	0	0	0.004672	0	24	62				
WT1	7490	broad.mit.edu	37	11	32413610	32413610	+	Splice_Site	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:32413610C>A	ENST00000379079.2	-	9	977	c.704G>T	c.(703-705)gGt>gTt	p.G235V	WT1_ENST00000530998.1_Splice_Site_p.G218V|WT1_ENST00000332351.3_Splice_Site_p.G447V|WT1_ENST00000448076.3_Splice_Site_p.G447V	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	379					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G379V(4)|p.G235V(2)|p.V380_S410del(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TGGTTTCACACCTAAATGGAC	0.532			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																														uc001mtn.1		NA	yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	D|Mis|N|F|S	Wilms tumour 1 gene			O	EWSR1	Wilms	Wilms|desmoplastic small round cell tumor	EWSR1/WT1(231)	7	Substitution - Missense(6)|Deletion - In frame(1)	p.G379V(2)|p.V380_S410del(1)	lung(4)|haematopoietic_and_lymphoid_tissue(3)	haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1)	687						c.(1339-1341)GGT>GTT		Wilms tumor 1 isoform D							135.0	126.0	129.0					11																	32413610		2202	4299	6501	SO:0001630	splice_region_variant	7490	Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:32413610C>A		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.704-1G>T	11.37:g.32413610C>A						WT1_uc001mtl.1_Missense_Mutation_p.G235V|WT1_uc001mtm.1_Missense_Mutation_p.G218V|WT1_uc001mto.1_Missense_Mutation_p.G447V|WT1_uc001mtp.1_Missense_Mutation_p.G430V|WT1_uc001mtq.1_Missense_Mutation_p.G430V|WT1_uc009yjs.1_RNA	p.G447V	NM_024426	NP_077744	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		9	1536	-	Breast(20;0.247)		379		G -> C (in NPHS4).	Important for interaction with target DNA.		A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	ENST00000379079.2	37	c.1340G>T	CCDS55751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.149058|5.149058	0.94645|0.94645	.|.	.|.	ENSG00000184937|ENSG00000184937	ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076|ENST00000527882	T;T;T;T;T|.	0.23552|.	1.9;1.9;1.9;1.9;1.9|.	6.04|6.04	6.04|6.04	0.98038|0.98038	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.64402|.	U|.	0.000002|.	D|D	0.83216|0.83216	0.5206|0.5206	M|M	0.83223|0.83223	2.63|2.63	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;0.999;1.0;1.0;1.0|.	D;D;D;D;D|.	0.81914|.	0.993;0.992;0.995;0.989;0.986|.	T|T	0.82621|0.82621	-0.0367|-0.0367	10|5	0.87932|.	D|.	0|.	.|.	20.5792|20.5792	0.99380|0.99380	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	435;379;452;218;235|.	P19544-8;P19544;P19544-7;B3KSA5;P19544-6|.	.;WT1_HUMAN;.;.;.|.	V|C	235;447;218;430;447|107	ENSP00000368370:G235V;ENSP00000331327:G447V;ENSP00000435307:G218V;ENSP00000415516:G430V;ENSP00000413452:G447V|.	ENSP00000331327:G447V|.	G|W	-|-	2|3	0|0	WT1|WT1	32370186|32370186	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.794000|7.794000	0.85869|0.85869	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	GGT|TGG		0.532	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378	Missense_Mutation	120	218	1	0	3.84086e-47	0.01441	5.38682e-47	120	218				
KIAA1549L	25758	broad.mit.edu	37	11	33628193	33628193	+	Missense_Mutation	SNP	C	C	T	rs202027343	byFrequency	TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:33628193C>T	ENST00000321505.4	+	13	4175	c.3995C>T	c.(3994-3996)gCg>gTg	p.A1332V	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A1338V			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1332						integral component of membrane (GO:0016021)		p.A1332V(1)									TCAGTGCCAGCGAGTGACGAA	0.483													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19588	0.0		0.0	False		,,,				2504	0.0						uc001mup.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(4012-4014)GCG>GTG		hypothetical protein LOC25758							66.0	70.0	68.0					11																	33628193		2014	4179	6193	SO:0001583	missense	25758					integral to membrane		g.chr11:33628193C>T	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3995C>T	11.37:g.33628193C>T	ENSP00000315295:p.Ala1332Val						p.A1338V	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			13	4137	+			1332					B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.4013C>T	CCDS44565.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.041|9.041	0.989675|0.989675	0.18966|0.18966	.|.	.|.	ENSG00000110427|ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000536568|ENST00000526400	.|.	.|.	.|.	5.43|5.43	2.0|2.0	0.26442|0.26442	.|.	0.342654|.	0.30235|.	N|.	0.010091|.	T|.	0.07188|.	0.0182|.	N|N	0.00538|0.00538	-1.39|-1.39	0.09310|0.09310	N|N	1|1	B|.	0.31290|.	0.318|.	B|.	0.20955|.	0.032|.	T|.	0.36016|.	-0.9765|.	9|.	0.30078|.	T|.	0.28|.	-4.9595|-4.9595	3.8169|3.8169	0.08819|0.08819	0.0:0.2812:0.5001:0.2187|0.0:0.2812:0.5001:0.2187	.|.	1338|.	E9PAT2|.	.|.	V|X	1332;1338;1171|730	.|.	ENSP00000315295:A1332V|.	A|R	+|+	2|1	0|2	C11orf41|C11orf41	33584769|33584769	0.000000|0.000000	0.05858|0.05858	0.018000|0.018000	0.16275|0.16275	0.546000|0.546000	0.35178|0.35178	0.804000|0.804000	0.27098|0.27098	0.615000|0.615000	0.30124|0.30124	0.561000|0.561000	0.74099|0.74099	GCG|CGA		0.483	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		7	85	0	0	0	0.008291	0	7	85				
SLC1A2	6506	broad.mit.edu	37	11	35333830	35333830	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:35333830T>C	ENST00000278379.3	-	4	758	c.476A>G	c.(475-477)aAt>aGt	p.N159S	SLC1A2_ENST00000606205.1_Missense_Mutation_p.N159S|SLC1A2_ENST00000395750.1_Missense_Mutation_p.N150S|SLC1A2_ENST00000395753.1_Missense_Mutation_p.N150S	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	159					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.N159S(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			CACTTCATCATTCTTCTTCCC	0.512																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)	NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)	uc001mwd.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(475-477)AAT>AGT		excitatory amino acid transporter 2	L-Glutamic Acid(DB00142)						215.0	198.0	204.0					11																	35333830		2202	4298	6500	SO:0001583	missense	6506				D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr11:35333830T>C	AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"""Solute carriers"""	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.476A>G	11.37:g.35333830T>C	ENSP00000278379:p.Asn159Ser					SLC1A2_uc001mwe.2_Missense_Mutation_p.N150S|SLC1A2_uc010rev.1_Missense_Mutation_p.N159S	p.N159S	NM_004171	NP_004162	P43004	EAA2_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		4	1068	-	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	159			Extracellular (Potential).		B4DQE9|Q14417|Q541G6|U3KQQ4	Missense_Mutation	SNP	ENST00000278379.3	37	c.476A>G	CCDS31459.1	.	.	.	.	.	.	.	.	.	.	T	12.38	1.919301	0.33908	.	.	ENSG00000110436	ENST00000278379;ENST00000395750;ENST00000395753;ENST00000449068	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.37732	0.1014	N	0.19112	0.55	0.80722	D	1	B;B	0.23806	0.012;0.091	B;B	0.25987	0.03;0.065	T	0.22695	-1.0209	10	0.08837	T	0.75	-23.0383	15.8865	0.79255	0.0:0.0:0.0:1.0	.	159;159	B4DQE9;P43004	.;EAA2_HUMAN	S	159;150;150;155	ENSP00000278379:N159S;ENSP00000379099:N150S;ENSP00000379102:N150S;ENSP00000406133:N155S	ENSP00000278379:N159S	N	-	2	0	SLC1A2	35290406	1.000000	0.71417	0.934000	0.37439	0.975000	0.68041	8.003000	0.88520	2.165000	0.68154	0.379000	0.24179	AAT		0.512	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	NM_004171		48	399	0	0	0	0.01441	0	48	399				
ACCS	84680	broad.mit.edu	37	11	44097136	44097136	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:44097136G>C	ENST00000263776.8	+	6	984	c.550G>C	c.(550-552)Gcc>Ccc	p.A184P	ACCS_ENST00000432284.2_3'UTR|ACCS_ENST00000533208.1_3'UTR	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	184					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.A184P(2)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GCTGTGTGAGGCCGGGGGTAA	0.577																																					Esophageal Squamous(158;148 1889 8077 23160 41213)		uc010rfo.1		NA								Mis|N|F|S						exostoses|osteosarcoma			2	Substitution - Missense(2)		lung(2)	lung(2)|breast(2)|skin(1)	5						c.(46-48)AGG>AGC		exostosin 2 isoform 2							197.0	142.0	160.0					11																	44097136		2203	4300	6503	SO:0001583	missense	2132	Hereditary_Multiple_Exostoses			glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44097136G>C	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.550G>C	11.37:g.44097136G>C	ENSP00000263776:p.Ala184Pro					ACCS_uc010rfm.1_Missense_Mutation_p.A111P|ACCS_uc009yks.1_Missense_Mutation_p.A184P|ACCS_uc010rfn.1_3'UTR|ACCS_uc001mxx.2_Missense_Mutation_p.A184P	p.R16S	NM_207122	NP_997005	Q93063	EXT2_HUMAN			1	61	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP	ENST00000263776.8	37	c.48G>C	CCDS7907.1	.	.	.	.	.	.	.	.	.	.	G	0.087	-1.173289	0.01646	.	.	ENSG00000110455	ENST00000263776	T	0.14516	2.5	4.82	1.44	0.22558	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.299246	0.36972	N	0.002304	T	0.01695	0.0054	N	0.00049	-2.42	0.20196	N	0.999929	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.46303	-0.9201	10	0.02654	T	1	1.7597	8.1709	0.31254	0.0983:0.4802:0.4215:0.0	.	111;184	B4DYM9;Q96QU6	.;1A1L1_HUMAN	P	184	ENSP00000263776:A184P	ENSP00000263776:A184P	A	+	1	0	ACCS	44053712	0.951000	0.32395	0.252000	0.24328	0.319000	0.28217	2.417000	0.44653	0.538000	0.28769	0.650000	0.86243	GCC		0.577	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592		15	137	0	0	0	0.020292	0	15	137				
MADD	8567	broad.mit.edu	37	11	47314115	47314115	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:47314115A>C	ENST00000311027.5	+	21	3548	c.3383A>C	c.(3382-3384)gAa>gCa	p.E1128A	MADD_ENST00000349238.3_Intron|MADD_ENST00000402799.1_Intron|MADD_ENST00000407859.3_Intron|MADD_ENST00000402192.2_Intron|MADD_ENST00000405573.2_5'UTR|MADD_ENST00000406482.1_Intron|MADD_ENST00000342922.4_Intron|MADD_ENST00000395344.3_Intron|MADD_ENST00000395336.3_Missense_Mutation_p.E1128A	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.E1128A(2)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AAGCACCAGGAAGTGAAAAAG	0.493																																							uc001ner.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(4)|central_nervous_system(2)	11						c.(3382-3384)GAA>GCA		MAP-kinase activating death domain-containing							104.0	99.0	101.0					11																	47314115		2201	4298	6499	SO:0001583	missense	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47314115A>C	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.3383A>C	11.37:g.47314115A>C	ENSP00000310933:p.Glu1128Ala					MADD_uc001neq.2_Intron|MADD_uc001nev.1_Intron|MADD_uc001nes.1_Intron|MADD_uc001net.1_Intron|MADD_uc009yln.1_Intron|MADD_uc001neu.1_Intron|MADD_uc001nex.2_Missense_Mutation_p.E1128A|MADD_uc001nez.2_Intron|MADD_uc001new.2_Intron|MADD_uc009ylo.2_Missense_Mutation_p.E46A	p.E1128A	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	21	3574	+			1128						Missense_Mutation	SNP	ENST00000311027.5	37	c.3383A>C	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	A	16.26	3.072079	0.55646	.	.	ENSG00000110514	ENST00000311027;ENST00000395336	T;T	0.06142	3.34;3.34	5.63	5.63	0.86233	.	0.049893	0.85682	D	0.000000	T	0.06645	0.0170	L	0.36672	1.1	0.80722	D	1	P;P	0.40731	0.728;0.608	B;B	0.38500	0.275;0.142	T	0.45745	-0.9240	10	0.11485	T	0.65	-15.4812	16.1339	0.81465	1.0:0.0:0.0:0.0	.	1128;1128	Q8WXG6-7;Q8WXG6	.;MADD_HUMAN	A	1128	ENSP00000310933:E1128A;ENSP00000378745:E1128A	ENSP00000310933:E1128A	E	+	2	0	MADD	47270691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.848000	0.92172	2.271000	0.75665	0.533000	0.62120	GAA		0.493	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			16	101	0	0	0	0.006122	0	16	101				
OR4C3	256144	broad.mit.edu	37	11	48346726	48346726	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:48346726C>T	ENST00000319856.4	+	1	255	c.234C>T	c.(232-234)ccC>ccT	p.P78P		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P78P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CCTCCAGCCCCACGCTGGCTT	0.453																																							uc010rhv.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(232-234)CCC>CCT		olfactory receptor, family 4, subfamily C,							146.0	124.0	132.0					11																	48346726		2201	4298	6499	SO:0001819	synonymous_variant	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48346726C>T	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.234C>T	11.37:g.48346726C>T							p.P78P	NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN			1	234	+			51			Cytoplasmic (Potential).		B2RNF2|Q6IFB3	Silent	SNP	ENST00000319856.4	37	c.234C>T	CCDS31489.1																																																																																				0.453	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		13	197	0	0	0	0.013537	0	13	197				
OR4A15	81328	broad.mit.edu	37	11	55136184	55136184	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:55136184C>A	ENST00000314706.3	+	1	825	c.825C>A	c.(823-825)gtC>gtA	p.V275V		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V275V(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TCACTGTGGTCATTTTATTCT	0.408																																							uc010rif.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(823-825)GTC>GTA		olfactory receptor, family 4, subfamily A,							245.0	229.0	234.0					11																	55136184		2201	4296	6497	SO:0001819	synonymous_variant	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55136184C>A	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.825C>A	11.37:g.55136184C>A							p.V275V	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	825	+			275			Helical; Name=6; (Potential).		Q6IFL4|Q96R65	Silent	SNP	ENST00000314706.3	37	c.825C>A	CCDS31500.1																																																																																				0.408	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		104	202	1	0	4.98208e-43	0.01441	6.92544e-43	104	202				
OR8K5	219453	broad.mit.edu	37	11	55927514	55927514	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:55927514A>T	ENST00000313447.1	-	1	279	c.280T>A	c.(280-282)Tat>Aat	p.Y94N		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y94N(2)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CATGCATAATAGGAAATAGTA	0.403																																							uc010rja.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(280-282)TAT>AAT		olfactory receptor, family 8, subfamily K,							96.0	95.0	96.0					11																	55927514		2201	4296	6497	SO:0001583	missense	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55927514A>T	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.280T>A	11.37:g.55927514A>T	ENSP00000323853:p.Tyr94Asn						p.Y94N	NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN			1	280	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	94			Extracellular (Potential).		Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	c.280T>A	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	A	16.09	3.025625	0.54683	.	.	ENSG00000181752	ENST00000313447	T	0.03553	3.89	3.88	3.88	0.44766	GPCR, rhodopsin-like superfamily (1);	0.405610	0.21188	N	0.078682	T	0.12561	0.0305	H	0.95114	3.625	0.25510	N	0.987463	D	0.56287	0.975	P	0.45829	0.494	T	0.30446	-0.9978	10	0.72032	D	0.01	.	7.4111	0.27017	0.8961:0.0:0.1039:0.0	.	94	Q8NH50	OR8K5_HUMAN	N	94	ENSP00000323853:Y94N	ENSP00000323853:Y94N	Y	-	1	0	OR8K5	55684090	0.013000	0.17824	0.038000	0.18304	0.837000	0.47467	2.521000	0.45563	1.750000	0.51863	0.462000	0.41574	TAT		0.403	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		33	115	0	0	0	0.015359	0	33	115				
OR5M1	390168	broad.mit.edu	37	11	56380147	56380147	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:56380147A>T	ENST00000526538.1	-	1	831	c.832T>A	c.(832-834)Tat>Aat	p.Y278N		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						AAAAAAGTATAAAAGACTGCA	0.413																																							uc001nja.1		NA																	0				central_nervous_system(1)	1						c.(832-834)TAT>AAT		olfactory receptor, family 5, subfamily M,							184.0	177.0	179.0					11																	56380147		1827	4090	5917	SO:0001583	missense	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380147A>T	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.832T>A	11.37:g.56380147A>T	ENSP00000435416:p.Tyr278Asn						p.Y278N	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN			1	832	-			278			Helical; Name=7; (Potential).		Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	c.832T>A	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	A	10.84	1.463471	0.26248	.	.	ENSG00000255012	ENST00000526538	T	0.00321	8.11	3.71	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00695	0.0023	M	0.82923	2.615	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.43669	-0.9377	9	0.87932	D	0	.	11.4861	0.50354	1.0:0.0:0.0:0.0	.	278	Q8NGP8	OR5M1_HUMAN	N	278	ENSP00000435416:Y278N	ENSP00000435416:Y278N	Y	-	1	0	OR5M1	56136723	0.980000	0.34600	0.334000	0.25495	0.068000	0.16541	5.017000	0.64047	1.586000	0.49944	0.232000	0.17820	TAT		0.413	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		139	242	0	0	0	0.01441	0	139	242				
FAM111B	374393	broad.mit.edu	37	11	58891882	58891882	+	Missense_Mutation	SNP	C	C	A	rs150852006		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:58891882C>A	ENST00000343597.3	+	4	503	c.312C>A	c.(310-312)agC>agA	p.S104R	FAM111B_ENST00000529618.1_Missense_Mutation_p.S74R|FAM111B_ENST00000411426.1_Missense_Mutation_p.S74R	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	104				S -> G (in Ref. 3; AAH62456). {ECO:0000305}.			catalytic activity (GO:0003824)	p.S104R(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GTAAACCCAGCGAGAGTATCT	0.338																																							uc001nnl.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(310-312)AGC>AGA		hypothetical protein LOC374393 isoform a							89.0	86.0	87.0					11																	58891882		2201	4295	6496	SO:0001583	missense	374393						catalytic activity	g.chr11:58891882C>A	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.312C>A	11.37:g.58891882C>A	ENSP00000341565:p.Ser104Arg					FAM111B_uc001nnm.2_Missense_Mutation_p.S74R|FAM111B_uc010rko.1_Missense_Mutation_p.S74R	p.S104R	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN			4	555	+			104	S -> G (in Ref. 3; AAH62456).				B4E2G2|Q6P661	Missense_Mutation	SNP	ENST00000343597.3	37	c.312C>A	CCDS7972.1	.	.	.	.	.	.	.	.	.	.	C	7.684	0.689585	0.14973	.	.	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000534403;ENST00000343597	T;T;T	0.31247	1.5;1.5;1.5	3.83	-1.62	0.08372	.	0.840053	0.09874	U	0.744509	T	0.10852	0.0265	N	0.03608	-0.345	0.09310	N	1	B	0.16603	0.018	B	0.08055	0.003	T	0.22173	-1.0224	10	0.37606	T	0.19	.	2.9718	0.05925	0.2825:0.3126:0.0:0.4049	.	104	Q6SJ93	F111B_HUMAN	R	74;74;74;104	ENSP00000393855:S74R;ENSP00000432875:S74R;ENSP00000341565:S104R	ENSP00000341565:S104R	S	+	3	2	FAM111B	58648458	0.001000	0.12720	0.000000	0.03702	0.014000	0.08584	-0.830000	0.04410	-0.383000	0.07858	-0.340000	0.08031	AGC		0.338	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		35	85	1	0	2.47316e-13	0.015359	2.97843e-13	35	85				
OR5A2	219981	broad.mit.edu	37	11	59190132	59190132	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:59190132C>G	ENST00000302040.4	-	1	317	c.295G>C	c.(295-297)Gcc>Ccc	p.A99P		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A99P(2)		large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						TACTGAGTGGCACAGCCAACA	0.512																																							uc010rkt.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(295-297)GCC>CCC		olfactory receptor, family 5, subfamily A,							86.0	82.0	83.0					11																	59190132		2201	4295	6496	SO:0001583	missense	219981				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59190132C>G	AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"""GPCR / Class A : Olfactory receptors"""	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.295G>C	11.37:g.59190132C>G	ENSP00000303834:p.Ala99Pro						p.A99P	NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN			1	295	-			99			Extracellular (Potential).		B9EH21|Q6IFF4|Q96RB0	Missense_Mutation	SNP	ENST00000302040.4	37	c.295G>C	CCDS31560.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916741	0.73098	.	.	ENSG00000172324	ENST00000302040	T	0.00406	7.55	5.47	4.55	0.56014	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34853	U	0.003640	T	0.01061	0.0035	M	0.82823	2.61	0.24394	N	0.994733	D	0.76494	0.999	D	0.70227	0.968	T	0.34129	-0.9841	10	0.72032	D	0.01	.	8.0083	0.30338	0.0:0.813:0.0:0.187	.	99	Q8NGI9	OR5A2_HUMAN	P	99	ENSP00000303834:A99P	ENSP00000303834:A99P	A	-	1	0	OR5A2	58946708	0.000000	0.05858	0.938000	0.37757	0.913000	0.54294	-1.262000	0.02852	1.426000	0.47256	0.585000	0.79938	GCC		0.512	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394552.1	NM_001001954		43	74	0	0	0	0.010771	0	43	74				
MS4A7	58475	broad.mit.edu	37	11	60150636	60150636	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:60150636A>G	ENST00000300184.3	+	2	218	c.22A>G	c.(22-24)Atg>Gtg	p.M8V	MS4A7_ENST00000358246.1_Missense_Mutation_p.M8V|MS4A7_ENST00000534016.1_Missense_Mutation_p.M8V|MS4A7_ENST00000530234.2_Missense_Mutation_p.M8V|MS4A14_ENST00000531787.1_Intron	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	8						integral component of membrane (GO:0016021)		p.M8V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						ATCCCAAACCATGGGGGTTTC	0.453																																							uc001npe.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(22-24)ATG>GTG		membrane-spanning 4-domains, subfamily A, member							117.0	107.0	110.0					11																	60150636		2203	4300	6503	SO:0001583	missense	58475					integral to membrane	receptor activity	g.chr11:60150636A>G	AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.22A>G	11.37:g.60150636A>G	ENSP00000300184:p.Met8Val					MS4A7_uc001npf.2_Missense_Mutation_p.M8V|MS4A7_uc001npg.2_Missense_Mutation_p.M8V|MS4A7_uc001nph.2_Missense_Mutation_p.M8V|MS4A14_uc001npi.2_Intron|MS4A7_uc009ymx.1_Missense_Mutation_p.M8V	p.M8V	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN			2	167	+			8			Cytoplasmic (Potential).		A6NP53|Q6IAG8	Missense_Mutation	SNP	ENST00000300184.3	37	c.22A>G	CCDS7985.1	.	.	.	.	.	.	.	.	.	.	A	7.604	0.673307	0.14776	.	.	ENSG00000166927	ENST00000300184;ENST00000358246;ENST00000534016;ENST00000530614;ENST00000530027;ENST00000530234	T;T;T;T;T;T	0.41758	3.31;2.52;2.52;2.57;2.79;0.99	3.8	2.63	0.31362	.	1.784390	0.02931	N	0.139152	T	0.32102	0.0818	N	0.22421	0.69	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.11329	0.005;0.006;0.002	T	0.18335	-1.0340	10	0.35671	T	0.21	-27.9548	7.1713	0.25721	0.7709:0.2291:0.0:0.0	.	8;8;8	E9PIV6;Q9GZW8-2;Q9GZW8	.;.;MS4A7_HUMAN	V	8	ENSP00000300184:M8V;ENSP00000350983:M8V;ENSP00000434637:M8V;ENSP00000433861:M8V;ENSP00000434819:M8V;ENSP00000433184:M8V	ENSP00000300184:M8V	M	+	1	0	MS4A7	59907212	0.000000	0.05858	0.005000	0.12908	0.008000	0.06430	0.346000	0.19997	0.780000	0.33566	0.533000	0.62120	ATG		0.453	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394299.1			58	107	0	0	0	0.01441	0	58	107				
MS4A5	64232	broad.mit.edu	37	11	60198329	60198329	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:60198329T>A	ENST00000300190.2	+	2	300	c.214T>A	c.(214-216)Ttg>Atg	p.L72M	MS4A5_ENST00000534071.1_Intron	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	72						integral component of membrane (GO:0016021)		p.L72M(1)		large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						CCTTTTCACCTTGTTAAAACC	0.368																																							uc001npo.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(214-216)TTG>ATG		membrane-spanning 4-domains, subfamily A, member							210.0	206.0	207.0					11																	60198329		2203	4300	6503	SO:0001583	missense	64232					integral to membrane	receptor activity	g.chr11:60198329T>A	AB013103	CCDS7987.1	11q12	2008-03-25			ENSG00000166930	ENSG00000166930			13374	protein-coding gene	gene with protein product		606499				11245982, 11401424	Standard	NM_023945		Approved	CD20L2	uc001npo.3	Q9H3V2	OTTHUMG00000167613	ENST00000300190.2:c.214T>A	11.37:g.60198329T>A	ENSP00000300190:p.Leu72Met						p.L72M	NM_023945	NP_076434	Q9H3V2	MS4A5_HUMAN			2	300	+			72			Helical; (Potential).		Q9BZH1	Missense_Mutation	SNP	ENST00000300190.2	37	c.214T>A	CCDS7987.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.559|8.559	0.877422|0.877422	0.17395|0.17395	.|.	.|.	ENSG00000166930|ENSG00000166930	ENST00000528905|ENST00000300190	.|T	.|0.02369	.|4.32	4.82|4.82	-1.77|-1.77	0.07982|0.07982	.|.	1.782100|1.782100	0.03187|0.03187	N|N	0.172903|0.172903	T|T	0.03915|0.03915	0.0110|0.0110	M|M	0.66297|0.66297	2.02|2.02	0.09310|0.09310	N|N	1|1	.|P	.|0.39216	.|0.664	.|B	.|0.33620	.|0.167	T|T	0.42965|0.42965	-0.9420|-0.9420	6|10	.|0.33141	.|T	.|0.24	0.0864|0.0864	4.4408|4.4408	0.11573|0.11573	0.1788:0.4499:0.0:0.3713|0.1788:0.4499:0.0:0.3713	.|.	.|72	.|Q9H3V2	.|MS4A5_HUMAN	H|M	45|72	.|ENSP00000300190:L72M	.|ENSP00000300190:L72M	L|L	+|+	2|1	0|2	MS4A5|MS4A5	59954905|59954905	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.007000|0.007000	0.05969|0.05969	0.036000|0.036000	0.13819|0.13819	-0.222000|-0.222000	0.09958|0.09958	0.533000|0.533000	0.62120|0.62120	CTT|TTG		0.368	MS4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395392.1			64	185	0	0	0	0.01441	0	64	185				
DDB1	1642	broad.mit.edu	37	11	61077340	61077340	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:61077340C>T	ENST00000301764.7	-	20	2891	c.2494G>A	c.(2494-2496)Ggc>Agc	p.G832S	DDB1_ENST00000450997.2_Missense_Mutation_p.G143S	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	832	Interaction with CDT1 and CUL4A.|WD repeat beta-propeller C.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)	p.G832S(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						ATTGCTGTGCCCACAATGAAG	0.512								Nucleotide excision repair (NER)																															uc001nrc.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|central_nervous_system(1)	4						c.(2494-2496)GGC>AGC	NER	damage-specific DNA binding protein 1							150.0	134.0	139.0					11																	61077340		2203	4299	6502	SO:0001583	missense	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61077340C>T	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.2494G>A	11.37:g.61077340C>T	ENSP00000301764:p.Gly832Ser					DDB1_uc010rle.1_Missense_Mutation_p.G143S|DDB1_uc010rlf.1_Missense_Mutation_p.G832S	p.G832S	NM_001923	NP_001914	Q16531	DDB1_HUMAN			20	2720	-			832			Interaction with CDT1 and CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	c.2494G>A	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	36	5.667988	0.96745	.	.	ENSG00000167986	ENST00000301764;ENST00000450997;ENST00000543658	T;T;T	0.69926	-0.44;-0.44;-0.44	5.51	5.51	0.81932	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84424	0.5469	M	0.86028	2.79	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.81914	0.993;0.995	D	0.85729	0.1330	10	0.62326	D	0.03	-25.8577	19.7945	0.96474	0.0:1.0:0.0:0.0	.	143;832	B4DG00;Q16531	.;DDB1_HUMAN	S	832;143;143	ENSP00000301764:G832S;ENSP00000388705:G143S;ENSP00000445844:G143S	ENSP00000301764:G832S	G	-	1	0	DDB1	60833916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.687000	0.84139	2.746000	0.94184	0.591000	0.81541	GGC		0.512	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		30	134	0	0	0	0.00632	0	30	134				
AHNAK	79026	broad.mit.edu	37	11	62292744	62292744	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:62292744C>T	ENST00000378024.4	-	5	9419	c.9145G>A	c.(9145-9147)Gct>Act	p.A3049T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3049					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.A3049T(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAAGGTCAGCCTTGGGCAGG	0.498																																							uc001ntl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(9145-9147)GCT>ACT		AHNAK nucleoprotein isoform 1							159.0	169.0	165.0					11																	62292744		2202	4296	6498	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62292744C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.9145G>A	11.37:g.62292744C>T	ENSP00000367263:p.Ala3049Thr					AHNAK_uc001ntk.1_Intron	p.A3049T	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	9445	-		Melanoma(852;0.155)	3049					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.9145G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	12.82	2.051669	0.36181	.	.	ENSG00000124942	ENST00000378024	T	0.00995	5.46	3.97	3.97	0.46021	.	.	.	.	.	T	0.05410	0.0143	M	0.87269	2.87	0.27050	N	0.963808	D	0.64830	0.994	D	0.71184	0.972	T	0.29549	-1.0008	9	0.16420	T	0.52	.	12.8538	0.57873	0.0:0.8344:0.1656:0.0	.	3049	Q09666	AHNK_HUMAN	T	3049	ENSP00000367263:A3049T	ENSP00000367263:A3049T	A	-	1	0	AHNAK	62049320	0.011000	0.17503	1.000000	0.80357	0.601000	0.36947	2.524000	0.45589	1.930000	0.55929	0.291000	0.19559	GCT		0.498	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		15	423	0	0	0	0.020292	0	15	423				
KRTAP5-11	440051	broad.mit.edu	37	11	71293630	71293630	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:71293630G>A	ENST00000398530.1	-	1	291	c.254C>T	c.(253-255)tCc>tTc	p.S85F	AP000867.1_ENST00000343767.3_Intron|KRTAP5-11_ENST00000526239.1_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	85	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.S85F(2)		endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ACAGCAGTTGGACTGGGAGCA	0.622																																							uc001oqu.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(253-255)TCC>TTC		keratin associated protein 5-11							87.0	113.0	104.0					11																	71293630		2200	4293	6493	SO:0001583	missense	440051					keratin filament		g.chr11:71293630G>A	AB126080	CCDS41685.1	11q13.4	2008-11-06			ENSG00000204571	ENSG00000204571		"""Keratin associated proteins"""	23606	protein-coding gene	gene with protein product						15144888	Standard	NM_001005405		Approved	KRTAP5.11, KRTAP5-6	uc001oqu.3	Q6L8G4	OTTHUMG00000057586	ENST00000398530.1:c.254C>T	11.37:g.71293630G>A	ENSP00000381541:p.Ser85Phe						p.S85F	NM_001005405	NP_001005405	Q6L8G4	KR511_HUMAN			1	292	-			85			6 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000398530.1	37	c.254C>T	CCDS41685.1	.	.	.	.	.	.	.	.	.	.	.	2.585	-0.296506	0.05532	.	.	ENSG00000204571	ENST00000376535;ENST00000398530	T	0.00958	5.5	2.27	-1.0	0.10196	.	.	.	.	.	T	0.00845	0.0028	L	0.41492	1.28	0.24928	N	0.991938	P	0.35139	0.486	B	0.26693	0.072	T	0.46359	-0.9197	9	0.87932	D	0	.	5.3623	0.16095	0.1453:0.2269:0.6278:0.0	.	85	Q6L8G4	KR511_HUMAN	F	85	ENSP00000381541:S85F	ENSP00000365718:S85F	S	-	2	0	KRTAP5-11	70971278	0.010000	0.17322	0.514000	0.27761	0.006000	0.05464	-1.820000	0.01714	-0.219000	0.10003	-1.646000	0.00762	TCC		0.622	KRTAP5-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127969.1	NM_001005405		40	106	0	0	0	0.005524	0	40	106				
C2CD3	26005	broad.mit.edu	37	11	73825446	73825446	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:73825446C>T	ENST00000334126.7	-	10	1939	c.1713G>A	c.(1711-1713)gtG>gtA	p.V571V	C2CD3_ENST00000313663.7_Silent_p.V571V			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	571					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.V571V(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)					TTGCTGTAGTCACCTTAGGTG	0.408																																							uc001ouu.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(4)|pancreas(2)|skin(1)	7						c.(1711-1713)GTG>GTA		C2 calcium-dependent domain containing 3							100.0	88.0	92.0					11																	73825446		2200	4293	6493	SO:0001819	synonymous_variant	26005					centrosome		g.chr11:73825446C>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.1713G>A	11.37:g.73825446C>T						C2CD3_uc001ouv.2_Silent_p.V571V	p.V571V	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN			10	1940	-	Breast(11;4.16e-06)		571					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Silent	SNP	ENST00000334126.7	37	c.1713G>A																																																																																					0.408	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		6	54	0	0	0	0.001984	0	6	54				
NARS2	79731	broad.mit.edu	37	11	78204159	78204159	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:78204159T>C	ENST00000281038.5	-	7	1147	c.772A>G	c.(772-774)Atg>Gtg	p.M258V	NARS2_ENST00000528850.1_Missense_Mutation_p.M31V	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	258					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)	p.M258V(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	GCTTCTATCATATAAAACTCT	0.393																																							uc001ozi.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(772-774)ATG>GTG		asparaginyl-tRNA synthetase 2, mitochondrial	L-Asparagine(DB00174)						76.0	81.0	79.0					11																	78204159		2200	4292	6492	SO:0001583	missense	79731				asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr11:78204159T>C	BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	26274	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 2, mitochondrial (putative)"""	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.772A>G	11.37:g.78204159T>C	ENSP00000281038:p.Met258Val					NARS2_uc010rsq.1_Missense_Mutation_p.M31V	p.M258V	NM_024678	NP_078954	Q96I59	SYNM_HUMAN			7	1148	-	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)		258					G3V178	Missense_Mutation	SNP	ENST00000281038.5	37	c.772A>G	CCDS8261.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.177603	0.78564	.	.	ENSG00000137513	ENST00000281038;ENST00000528850	D;D	0.85861	-2.04;-2.04	5.67	5.67	0.87782	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.91019	0.7175	H	0.96015	3.755	0.80722	D	1	P	0.44309	0.832	B	0.44224	0.444	D	0.93141	0.6541	10	0.87932	D	0	-17.3672	13.427	0.61030	0.0:0.0:0.0:1.0	.	258	Q96I59	SYNM_HUMAN	V	258;31	ENSP00000281038:M258V;ENSP00000432635:M31V	ENSP00000281038:M258V	M	-	1	0	NARS2	77881807	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.121000	0.77160	2.157000	0.67596	0.528000	0.53228	ATG		0.393	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2	NM_024678		57	80	0	0	0	0.01441	0	57	80				
DLG2	1740	broad.mit.edu	37	11	83173087	83173087	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:83173087G>C	ENST00000532653.1	-	22	2712	c.2410C>G	c.(2410-2412)Cga>Gga	p.R804G	DLG2_ENST00000531015.1_Missense_Mutation_p.R789G|DLG2_ENST00000376104.2_Missense_Mutation_p.R927G|DLG2_ENST00000376106.3_Missense_Mutation_p.R286G|DLG2_ENST00000426717.2_Missense_Mutation_p.R286G|DLG2_ENST00000543673.1_Missense_Mutation_p.R927G|DLG2_ENST00000418306.2_Missense_Mutation_p.R701G|DLG2_ENST00000398309.2_Missense_Mutation_p.R822G|DLG2_ENST00000404783.3_Missense_Mutation_p.R300G|DLG2_ENST00000330014.6_Missense_Mutation_p.R743G|DLG2_ENST00000280241.8_Missense_Mutation_p.R861G|DLG2_ENST00000537455.1_Missense_Mutation_p.R572G|DLG2_ENST00000524982.1_Missense_Mutation_p.R818G			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	528					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.R927G(2)|p.R861G(2)|p.R701G(2)|p.R822G(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TTAATTGCTCGATCATAGGTT	0.378																																							uc001paj.2		NA																	8	Substitution - Missense(8)		lung(8)	ovary(3)|pancreas(2)|skin(1)	6						c.(2464-2466)CGA>GGA		chapsyn-110 isoform 2							171.0	161.0	164.0					11																	83173087		1877	4140	6017	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding	g.chr11:83173087G>C	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.2410C>G	11.37:g.83173087G>C	ENSP00000435849:p.Arg804Gly					DLG2_uc001pai.2_Missense_Mutation_p.R701G|DLG2_uc010rsy.1_Missense_Mutation_p.R771G|DLG2_uc010rsz.1_Missense_Mutation_p.R818G|DLG2_uc010rta.1_Missense_Mutation_p.R804G|DLG2_uc001pak.2_Missense_Mutation_p.R927G|DLG2_uc010rtb.1_Missense_Mutation_p.R789G|DLG2_uc010rsw.1_Missense_Mutation_p.R286G|DLG2_uc010rsx.1_Missense_Mutation_p.R299G	p.R822G	NM_001364	NP_001355	Q15700	DLG2_HUMAN			22	2767	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	822			Guanylate kinase-like.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37	c.2464C>G		.	.	.	.	.	.	.	.	.	.	G	17.37	3.373142	0.61624	.	.	ENSG00000150672	ENST00000398309;ENST00000426717;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000404783;ENST00000330014;ENST00000537455;ENST00000376106;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015	T;T;T;T;T;T;T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.01	3.11	0.35812	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.56097	D	0.000025	T	0.72510	0.3469	M	0.90198	3.095	0.53005	D	0.999965	D;D;B;D;D;D;D;P	0.89917	0.976;1.0;0.059;0.999;0.968;0.998;0.996;0.562	P;D;B;D;P;D;D;P	0.85130	0.582;0.997;0.237;0.987;0.866;0.993;0.936;0.584	T	0.77795	-0.2454	9	.	.	.	.	13.5855	0.61928	0.0:0.0:0.5952:0.4048	.	789;804;818;743;300;927;822;701	E9PIW2;B7Z2T4;E9PN83;B7Z264;B5MCC5;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	G	822;286;927;701;927;861;300;743;572;286;818;804;927;789	ENSP00000381355:R822G;ENSP00000393049:R286G;ENSP00000365272:R927G;ENSP00000402275:R701G;ENSP00000441994:R927G;ENSP00000280241:R861G;ENSP00000385113:R300G;ENSP00000381353:R743G;ENSP00000443248:R572G;ENSP00000365274:R286G;ENSP00000432894:R818G;ENSP00000435849:R804G;ENSP00000433848:R789G	.	R	-	1	2	DLG2	82850735	1.000000	0.71417	0.973000	0.42090	0.988000	0.76386	2.560000	0.45896	0.682000	0.31407	-0.181000	0.13052	CGA		0.378	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		16	91	0	0	0	0.006122	0	16	91				
CCDC67	159989	broad.mit.edu	37	11	93118676	93118676	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:93118676G>C	ENST00000298050.3	+	8	1002	c.902G>C	c.(901-903)gGa>gCa	p.G301A	CCDC67_ENST00000525646.1_Missense_Mutation_p.G43A	NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	301					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)		p.G293A(2)		endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TTAAAAATAGGAGAGTGCCAA	0.323																																							uc001pdq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(901-903)GGA>GCA		coiled-coil domain containing 67							62.0	60.0	61.0					11																	93118676		1807	4068	5875	SO:0001583	missense	159989							g.chr11:93118676G>C	AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.902G>C	11.37:g.93118676G>C	ENSP00000298050:p.Gly301Ala					CCDC67_uc001pdo.1_Missense_Mutation_p.G301A|CCDC67_uc001pdp.2_Missense_Mutation_p.G301A	p.G301A	NM_181645	NP_857596	Q05D60	CCD67_HUMAN			8	1002	+		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)	301					Q8NEF1|Q96LL7	Missense_Mutation	SNP	ENST00000298050.3	37	c.902G>C	CCDS44707.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852636	0.32699	.	.	ENSG00000165325	ENST00000534747;ENST00000298050;ENST00000532819;ENST00000525646	T;T;T;T	0.41065	2.31;2.31;1.01;1.91	5.94	5.94	0.96194	.	0.169378	0.41712	D	0.000836	T	0.33294	0.0858	L	0.39898	1.24	0.26422	N	0.976088	P;P;P	0.39181	0.663;0.663;0.663	B;B;B	0.41202	0.242;0.242;0.35	T	0.23013	-1.0200	10	0.10377	T	0.69	.	10.0979	0.42486	0.0733:0.1382:0.7885:0.0	.	301;301;293	Q05D60;E9PJR5;Q6ZRU6	CCD67_HUMAN;.;.	A	301;301;301;43	ENSP00000432111:G301A;ENSP00000298050:G301A;ENSP00000434635:G301A;ENSP00000435079:G43A	ENSP00000298050:G301A	G	+	2	0	CCDC67	92758324	1.000000	0.71417	0.872000	0.34217	0.986000	0.74619	1.788000	0.38714	2.812000	0.96745	0.557000	0.71058	GGA		0.323	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645		12	36	0	0	0	0.010729	0	12	36				
PIWIL4	143689	broad.mit.edu	37	11	94322291	94322291	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:94322291A>G	ENST00000299001.6	+	8	1130	c.919A>G	c.(919-921)Aat>Gat	p.N307D	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	307	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)	p.N307D(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGGCAGATACAATAACAGAAC	0.378																																							uc001pfa.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(919-921)AAT>GAT		piwi-like 4							129.0	118.0	122.0					11																	94322291		2201	4298	6499	SO:0001583	missense	143689				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	g.chr11:94322291A>G	AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"""Argonaute/PIWI family"""	18444	protein-coding gene	gene with protein product		610315	"""piwi-like 4 (Drosophila)"""			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.919A>G	11.37:g.94322291A>G	ENSP00000299001:p.Asn307Asp					PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA	p.N307D	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN			8	1130	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	307			PAZ.		B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	SNP	ENST00000299001.6	37	c.919A>G	CCDS31656.1	.	.	.	.	.	.	.	.	.	.	A	16.35	3.099796	0.56183	.	.	ENSG00000134627	ENST00000299001	T	0.13307	2.6	4.96	4.96	0.65561	Argonaute/Dicer protein, PAZ (4);	0.000000	0.64402	D	0.000001	T	0.49184	0.1542	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.63523	-0.6618	10	0.52906	T	0.07	-31.5611	13.9127	0.63878	1.0:0.0:0.0:0.0	.	307	Q7Z3Z4	PIWL4_HUMAN	D	307	ENSP00000299001:N307D	ENSP00000299001:N307D	N	+	1	0	PIWIL4	93961939	1.000000	0.71417	1.000000	0.80357	0.216000	0.24613	7.670000	0.83925	1.973000	0.57446	0.454000	0.30748	AAT		0.378	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431		19	76	0	0	0	0.006122	0	19	76				
CWF19L2	143884	broad.mit.edu	37	11	107207336	107207336	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:107207336T>G	ENST00000282251.5	-	15	2333	c.2306A>C	c.(2305-2307)gAa>gCa	p.E769A		NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	769							catalytic activity (GO:0003824)	p.E615A(2)|p.E769A(2)		endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		AGGAATACATTCATAAACCAT	0.333																																							uc010rvp.1		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(2305-2307)GAA>GCA		CWF19-like 2, cell cycle control							110.0	109.0	110.0					11																	107207336		2201	4295	6496	SO:0001583	missense	143884						catalytic activity	g.chr11:107207336T>G	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.2306A>C	11.37:g.107207336T>G	ENSP00000282251:p.Glu769Ala					CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	p.E769A	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	15	2336	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	769					A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	c.2306A>C	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	T	18.17	3.563723	0.65651	.	.	ENSG00000152404	ENST00000282251;ENST00000409771	T	0.13778	2.56	5.72	5.72	0.89469	Histidine triad-like motif (1);Cwf19-like, C-terminal domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.47893	0.1470	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.60198	-0.7310	10	0.72032	D	0.01	-26.4762	15.1815	0.72962	0.0:0.0:0.0:1.0	.	769	Q2TBE0	C19L2_HUMAN	A	769;27	ENSP00000282251:E769A	ENSP00000282251:E769A	E	-	2	0	CWF19L2	106712546	1.000000	0.71417	0.993000	0.49108	0.269000	0.26545	8.010000	0.88615	2.177000	0.69029	0.533000	0.62120	GAA		0.333	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		27	70	0	0	0	0.009535	0	27	70				
NPAT	4863	broad.mit.edu	37	11	108040747	108040747	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:108040747G>C	ENST00000278612.8	-	14	2914	c.2809C>G	c.(2809-2811)Cca>Gca	p.P937A	NPAT_ENST00000610253.1_5'Flank	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	937					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.P937A(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GGCTGGACTGGAGAGGCAATT	0.383																																							uc001pjz.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2809-2811)CCA>GCA		nuclear protein,  ataxia-telangiectasia locus							99.0	90.0	93.0					11																	108040747		1854	4097	5951	SO:0001583	missense	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108040747G>C	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.2809C>G	11.37:g.108040747G>C	ENSP00000278612:p.Pro937Ala					NPAT_uc010rvv.1_5'UTR	p.P937A	NM_002519	NP_002510	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	14	2911	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	937					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	c.2809C>G	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.906153	0.72868	.	.	ENSG00000149308	ENST00000278612	T	0.08634	3.07	5.5	5.5	0.81552	.	0.060866	0.64402	D	0.000004	T	0.24353	0.0590	L	0.52011	1.625	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.00143	-1.1995	10	0.33141	T	0.24	-18.2354	17.93	0.88993	0.0:0.0:1.0:0.0	.	937	Q14207	NPAT_HUMAN	A	937	ENSP00000278612:P937A	ENSP00000278612:P937A	P	-	1	0	NPAT	107545957	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.410000	0.80065	2.735000	0.93741	0.557000	0.71058	CCA		0.383	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		108	116	0	0	0	0.01441	0	108	116				
ZC3H12C	85463	broad.mit.edu	37	11	110035851	110035851	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:110035851C>T	ENST00000278590.3	+	6	2092	c.2041C>T	c.(2041-2043)Cac>Tac	p.H681Y	ZC3H12C_ENST00000453089.2_Missense_Mutation_p.H650Y|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.H682Y	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	681							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.H681Y(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GCAGAATTTCCACGACCCCTT	0.547																																							uc009yxw.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2041-2043)CAC>TAC		zinc finger CCCH-type containing 12C							183.0	199.0	194.0					11																	110035851		2050	4196	6246	SO:0001583	missense	85463						endonuclease activity|nucleic acid binding|zinc ion binding	g.chr11:110035851C>T		CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.2041C>T	11.37:g.110035851C>T	ENSP00000278590:p.His681Tyr					ZC3H12C_uc010rwc.1_Missense_Mutation_p.H682Y|ZC3H12C_uc010rwd.1_Missense_Mutation_p.H682Y|ZC3H12C_uc001pkr.3_Missense_Mutation_p.H650Y	p.H681Y	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)	6	2092	+		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	681					B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	c.2041C>T	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116943	0.77323	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.38077	1.17;1.16;1.17	6.04	6.04	0.98038	.	0.401702	0.23620	N	0.046257	T	0.61311	0.2337	M	0.68593	2.085	0.41080	D	0.985519	D;D;D	0.63880	0.993;0.993;0.993	D;D;D	0.70227	0.968;0.968;0.968	T	0.57093	-0.7870	10	0.49607	T	0.09	-25.9254	20.5792	0.99380	0.0:1.0:0.0:0.0	.	682;681;681	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	Y	681;682;650	ENSP00000278590:H681Y;ENSP00000431821:H682Y;ENSP00000413094:H650Y	ENSP00000278590:H681Y	H	+	1	0	ZC3H12C	109541061	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.459000	0.66685	2.873000	0.98535	0.561000	0.74099	CAC		0.547	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390		71	484	0	0	0	0.01441	0	71	484				
NXPE4	54827	broad.mit.edu	37	11	114453150	114453150	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:114453150G>C	ENST00000375478.3	-	3	870	c.690C>G	c.(688-690)tgC>tgG	p.C230W	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	230						extracellular vesicular exosome (GO:0070062)		p.C230W(2)									CCAGGTACTGGCACAATTCAG	0.478																																							uc001ppc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(688-690)TGC>TGG		hypothetical protein LOC54827 isoform 1							123.0	124.0	124.0					11																	114453150		2138	4267	6405	SO:0001583	missense	54827					extracellular region		g.chr11:114453150G>C	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.690C>G	11.37:g.114453150G>C	ENSP00000364627:p.Cys230Trp					FAM55D_uc001ppd.2_Intron	p.C230W	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)	3	871	-		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	230					Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	c.690C>G	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	G	9.899	1.206241	0.22205	.	.	ENSG00000137634	ENST00000375478	T	0.33865	1.39	5.16	-0.542	0.11854	.	0.000000	0.64402	D	0.000001	T	0.64940	0.2644	H	0.95224	3.64	0.54753	D	0.999984	D	0.89917	1.0	D	0.97110	1.0	T	0.67776	-0.5583	10	0.87932	D	0	.	8.8243	0.35045	0.5679:0.0:0.4321:0.0	.	230	Q6UWF7	FA55D_HUMAN	W	230	ENSP00000364627:C230W	ENSP00000364627:C230W	C	-	3	2	FAM55D	113958360	0.004000	0.15560	0.125000	0.21846	0.129000	0.20672	-0.206000	0.09398	-0.058000	0.13177	-0.229000	0.12294	TGC		0.478	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		23	211	0	0	0	0.016522	0	23	211				
DSCAML1	57453	broad.mit.edu	37	11	117308768	117308768	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:117308768G>T	ENST00000321322.6	-	25	4456	c.4455C>A	c.(4453-4455)agC>agA	p.S1485R	DSCAML1_ENST00000527706.1_Missense_Mutation_p.S1215R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1425	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.S1485R(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCCACTCCTCGCTGTTGTCCA	0.602																																							uc001prh.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(4453-4455)AGC>AGA		Down syndrome cell adhesion molecule like 1							92.0	68.0	77.0					11																	117308768		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117308768G>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4455C>A	11.37:g.117308768G>T	ENSP00000315465:p.Ser1485Arg						p.S1485R	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	25	4457	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1425			Fibronectin type-III 5.|Extracellular (Potential).		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.4455C>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298199	0.60195	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.58506	0.33;0.33	4.17	1.25	0.21368	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66066	0.2752	L	0.53729	1.69	0.46774	D	0.999191	D	0.65815	0.995	D	0.71184	0.972	T	0.64575	-0.6375	9	0.62326	D	0.03	.	8.3497	0.32295	0.3315:0.0:0.6685:0.0	.	1425	Q8TD84	DSCL1_HUMAN	R	1215;1485;1192	ENSP00000434335:S1215R;ENSP00000315465:S1485R	ENSP00000315465:S1485R	S	-	3	2	DSCAML1	116813978	0.007000	0.16637	1.000000	0.80357	0.997000	0.91878	-0.989000	0.03736	0.519000	0.28406	0.549000	0.68633	AGC		0.602	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		44	39	1	0	4.1673e-28	0.01441	5.56587e-28	44	39				
IL10RA	3587	broad.mit.edu	37	11	117870171	117870171	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:117870171C>A	ENST00000227752.3	+	7	1672	c.1552C>A	c.(1552-1554)Cag>Aag	p.Q518K	IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Missense_Mutation_p.Q498K|IL10RA_ENST00000545409.1_Missense_Mutation_p.Q369K	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	518					cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.Q518K(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		ACAGTGGAACCAGCCCACTGA	0.577																																							uc001prv.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1552-1554)CAG>AAG		interleukin 10 receptor, alpha precursor							41.0	40.0	41.0					11																	117870171		2200	4296	6496	SO:0001583	missense	3587					integral to membrane|plasma membrane	interleukin-10 receptor activity	g.chr11:117870171C>A	U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"""Interleukins and interleukin receptors"", ""CD molecules"""	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.1552C>A	11.37:g.117870171C>A	ENSP00000227752:p.Gln518Lys					IL10RA_uc010rxl.1_Missense_Mutation_p.Q498K|IL10RA_uc010rxm.1_Missense_Mutation_p.Q498K|IL10RA_uc010rxn.1_Missense_Mutation_p.Q369K|IL10RA_uc001prw.2_Missense_Mutation_p.Q369K	p.Q518K	NM_001558	NP_001549	Q13651	I10R1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)	7	1629	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	518			Cytoplasmic (Potential).		A8K6I0|B0YJ27	Missense_Mutation	SNP	ENST00000227752.3	37	c.1552C>A	CCDS8388.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.63|12.63	1.995272|1.995272	0.35226|0.35226	.|.	.|.	ENSG00000110324|ENSG00000110324	ENST00000536858|ENST00000227752;ENST00000541785;ENST00000545409	.|T;T;T	.|0.21031	.|2.03;2.03;2.03	5.55|5.55	4.59|4.59	0.56863|0.56863	.|.	.|2.366860	.|0.01314	.|N	.|0.010735	T|T	0.29093|0.29093	0.0723|0.0723	L|L	0.56769|0.56769	1.78|1.78	0.09310|0.09310	N|N	1|1	.|B;B	.|0.28933	.|0.228;0.146	.|B;B	.|0.30855	.|0.121;0.038	T|T	0.48681|0.48681	-0.9014|-0.9014	6|10	0.87932|0.13853	D|T	0|0.58	0.8632|0.8632	15.107|15.107	0.72329|0.72329	0.0:0.8453:0.1547:0.0|0.0:0.8453:0.1547:0.0	.|.	.|498;518	.|F5GYV8;Q13651	.|.;I10R1_HUMAN	Q|K	497|518;498;369	.|ENSP00000227752:Q518K;ENSP00000441397:Q498K;ENSP00000443019:Q369K	ENSP00000437387:P497Q|ENSP00000227752:Q518K	P|Q	+|+	2|1	0|0	IL10RA|IL10RA	117375381|117375381	0.003000|0.003000	0.15002|0.15002	0.046000|0.046000	0.18839|0.18839	0.184000|0.184000	0.23303|0.23303	1.716000|1.716000	0.37981|0.37981	2.629000|2.629000	0.89072|0.89072	0.462000|0.462000	0.41574|0.41574	CCA|CAG		0.577	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1			59	69	1	0	2.47907e-22	0.01441	3.23931e-22	59	69				
FOXR1	283150	broad.mit.edu	37	11	118851198	118851198	+	Splice_Site	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:118851198A>G	ENST00000317011.3	+	5	836		c.e5-1			NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CCCTGTCCATAGAAAGCACTT	0.537																																							uc001pui.2		NA																	2	Unknown(2)		lung(2)	skin(1)	1						c.e5-2		forkhead box R1							58.0	63.0	61.0					11																	118851198		2200	4295	6495	SO:0001630	splice_region_variant	283150				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr11:118851198A>G	AB094092	CCDS31688.1	11q23.3	2008-02-05			ENSG00000176302	ENSG00000176302		"""Forkhead boxes"""	29980	protein-coding gene	gene with protein product		615755				15067358	Standard	XM_005271514		Approved	DLNB13, FOXN5	uc001pui.3	Q6PIV2	OTTHUMG00000166347	ENST00000317011.3:c.612-1A>G	11.37:g.118851198A>G						FOXR1_uc001puj.2_Intron|FOXR1_uc001puk.2_Splice_Site_p.R35_splice	p.R204_splice	NM_181721	NP_859072	Q6PIV2	FOXR1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)	5	837	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)						B0YJ15|Q08AS8|Q86UT9|Q8IXX2	Splice_Site	SNP	ENST00000317011.3	37	c.612_splice	CCDS31688.1	.	.	.	.	.	.	.	.	.	.	A	13.59	2.282514	0.40394	.	.	ENSG00000176302	ENST00000317011;ENST00000533282	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7005	0.62606	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FOXR1	118356408	1.000000	0.71417	0.999000	0.59377	0.140000	0.21249	7.501000	0.81600	2.122000	0.65172	0.455000	0.32223	.		0.537	FOXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389312.1	NM_181721	Intron	82	117	0	0	0	0.01441	0	82	117				
DPAGT1	1798	broad.mit.edu	37	11	118971090	118971090	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:118971090C>A	ENST00000409993.2	-	6	2076	c.525G>T	c.(523-525)ctG>ctT	p.L175L	DPAGT1_ENST00000445653.1_5'Flank|DPAGT1_ENST00000432443.2_Silent_p.L68L|DPAGT1_ENST00000354202.4_Silent_p.L175L			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	175					cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)	p.L175L(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		ACACTGCCAGCAGCCCCATGT	0.463											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001pvi.2		NA																	2	Substitution - coding silent(2)		lung(2)	breast(2)|ovary(1)	3						c.(523-525)CTG>CTT		UDP-N-acetylglucosamine-dolichyl-phosphate							87.0	84.0	85.0					11																	118971090		2200	4295	6495	SO:0001819	synonymous_variant	1798				dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	g.chr11:118971090C>A	Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.525G>T	11.37:g.118971090C>A			OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1492	DPAGT1_uc001pvj.2_Silent_p.L68L|DPAGT1_uc009zaq.2_RNA|DPAGT1_uc001pvk.2_Silent_p.L3L|DPAGT1_uc010ryz.1_Silent_p.L175L|DPAGT1_uc001pvm.1_Silent_p.L68L|DPAGT1_uc010rza.1_Silent_p.L68L	p.L175L	NM_001382	NP_001373	Q9H3H5	GPT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)	4	945	-	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	175			Helical; (Potential).		O15216|Q86WV9|Q9BWE6	Silent	SNP	ENST00000409993.2	37	c.525G>T	CCDS8411.1																																																																																				0.463	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382		59	195	1	0	1.19403e-26	0.01441	1.58665e-26	59	195				
POU2F3	25833	broad.mit.edu	37	11	120175882	120175882	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:120175882G>A	ENST00000543440.2	+	7	738	c.588G>A	c.(586-588)aaG>aaA	p.K196K	POU2F3_ENST00000260264.4_Silent_p.K198K	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	196	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)|sequence-specific DNA binding (GO:0043565)	p.K196K(2)		large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		AGTTTGCCAAGACCTTCAAGC	0.567																																							uc001pxc.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(586-588)AAG>AAA		POU transcription factor							88.0	91.0	90.0					11																	120175882		2203	4299	6502	SO:0001819	synonymous_variant	25833				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	g.chr11:120175882G>A	AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"""Homeoboxes / POU class"""	19864	protein-coding gene	gene with protein product		607394	"""POU domain class 2, transcription factor 3"""			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.588G>A	11.37:g.120175882G>A						POU2F3_uc010rzk.1_Silent_p.K150K|POU2F3_uc010rzl.1_Silent_p.K126K|POU2F3_uc001pxe.1_5'Flank	p.K196K	NM_014352	NP_055167	Q9UKI9	PO2F3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)	7	690	+		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)	196			POU-specific.		A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Silent	SNP	ENST00000543440.2	37	c.588G>A	CCDS8431.1																																																																																				0.567	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2			30	233	0	0	0	0.008361	0	30	233				
HSPA8	3312	broad.mit.edu	37	11	122930824	122930824	+	Splice_Site	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:122930824C>T	ENST00000532636.1	-	4	683	c.564G>A	c.(562-564)aaG>aaA	p.K188K	HSPA8_ENST00000453788.2_Splice_Site_p.K188K|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000526110.1_Splice_Site_p.K169K|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000534319.1_5'UTR|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000227378.3_Splice_Site_p.K188K|HSPA8_ENST00000534624.1_Splice_Site_p.K188K|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000533540.1_Intron			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	188	Interaction with BAG1.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)	p.K188K(2)		breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGGTACATACCTTTTTGTCTA	0.368																																					Colon(21;486 594 5900 6733 14272)	Colon(21;486 594 5900 6733 14272)	uc001pyo.2		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(7)|lung(1)	8						c.(562-564)AAG>AAA		heat shock 70kDa protein 8 isoform 1							108.0	106.0	107.0					11																	122930824		2202	4299	6501	SO:0001630	splice_region_variant	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122930824C>T	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.564+1G>A	11.37:g.122930824C>T						HSPA8_uc009zbc.2_5'UTR|HSPA8_uc001pyp.2_Silent_p.K188K|HSPA8_uc010rzu.1_Silent_p.K111K|HSPA8_uc009zbd.1_Silent_p.K188K|HSPA8_uc010rzv.1_Silent_p.K188K	p.K188K	NM_006597	NP_006588	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	4	642	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	188			Interaction with BAG1.		Q9H3R6	Silent	SNP	ENST00000532636.1	37	c.564G>A	CCDS8440.1																																																																																				0.368	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1		Silent	18	192	0	0	0	0.007413	0	18	192				
OR10G4	390264	broad.mit.edu	37	11	123887150	123887150	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:123887150G>A	ENST00000320891.4	+	1	869	c.869G>A	c.(868-870)aGa>aAa	p.R290K		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R290K(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TACACCCTGAGAAACAAGGAG	0.433																																							uc010sac.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(868-870)AGA>AAA		olfactory receptor, family 10, subfamily G,							82.0	78.0	79.0					11																	123887150		2201	4299	6500	SO:0001583	missense	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123887150G>A	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.869G>A	11.37:g.123887150G>A	ENSP00000325076:p.Arg290Lys						p.R290K	NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	869	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	290			Cytoplasmic (Potential).		Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	c.869G>A	CCDS31702.1	.	.	.	.	.	.	.	.	.	.	g	19.43	3.825704	0.71143	.	.	ENSG00000254737	ENST00000320891	T	0.39997	1.05	3.38	3.38	0.38709	.	0.000000	0.46442	D	0.000283	T	0.52322	0.1727	L	0.33624	1.015	0.28663	N	0.906016	D	0.69078	0.997	D	0.79108	0.992	T	0.51276	-0.8726	10	0.72032	D	0.01	.	14.9265	0.70881	0.0:0.0:1.0:0.0	.	290	Q8NGN3	O10G4_HUMAN	K	290	ENSP00000325076:R290K	ENSP00000325076:R290K	R	+	2	0	OR10G4	123392360	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.871000	0.63042	1.900000	0.55004	0.580000	0.79431	AGA		0.433	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		80	110	0	0	0	0.01441	0	80	110				
FEZ1	9638	broad.mit.edu	37	11	125325834	125325834	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:125325834T>A	ENST00000278919.3	-	6	1070	c.836A>T	c.(835-837)aAc>aTc	p.N279I	FEZ1_ENST00000527350.1_5'UTR	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	279					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		CTTCTGCTTGTTCTGAACCTC	0.542																																					Melanoma(180;509 2033 10762 15939 24711)	Melanoma(180;509 2033 10762 15939 24711)	uc001qbx.2		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(835-837)AAC>ATC		zygin 1 isoform 1							157.0	143.0	148.0					11																	125325834		2201	4299	6500	SO:0001583	missense	9638				axon guidance|cell adhesion|transport	microtubule|plasma membrane		g.chr11:125325834T>A	U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.836A>T	11.37:g.125325834T>A	ENSP00000278919:p.Asn279Ile					FEZ1_uc001qbw.2_Missense_Mutation_p.N69I|FEZ1_uc010sbc.1_Missense_Mutation_p.N250I	p.N279I	NM_005103	NP_005094	Q99689	FEZ1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)	6	988	-	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	279			Potential.		O00679|O00728|Q6IBI7	Missense_Mutation	SNP	ENST00000278919.3	37	c.836A>T	CCDS31716.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.269029	0.80469	.	.	ENSG00000149557	ENST00000278919	T	0.53857	0.6	5.62	4.5	0.54988	.	0.139706	0.64402	D	0.000004	T	0.69296	0.3095	M	0.81112	2.525	0.80722	D	1	D;D	0.62365	0.991;0.96	D;P	0.64877	0.93;0.857	T	0.71751	-0.4498	10	0.87932	D	0	-10.952	9.3694	0.38246	0.0:0.1475:0.0:0.8525	.	250;279	B4DKG5;Q99689	.;FEZ1_HUMAN	I	279	ENSP00000278919:N279I	ENSP00000278919:N279I	N	-	2	0	FEZ1	124831044	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.191000	0.58372	0.976000	0.38417	0.460000	0.39030	AAC		0.542	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386875.1	NM_005103		9	265	0	0	0	0.006214	0	9	265				
KCNJ1	3758	broad.mit.edu	37	11	128710054	128710054	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:128710054T>A	ENST00000392664.2	-	2	258	c.142A>T	c.(142-144)Agg>Tgg	p.R48W	KCNJ1_ENST00000440599.2_Missense_Mutation_p.R29W|KCNJ1_ENST00000392665.2_Missense_Mutation_p.R29W|KCNJ1_ENST00000392666.1_Missense_Mutation_p.R29W|KCNJ1_ENST00000324036.3_Missense_Mutation_p.R29W	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	48					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	ATGTTGCACCTTCCATCTTTG	0.438																																							uc001qeo.1		NA																	0				ovary(3)|breast(1)	4						c.(142-144)AGG>TGG		potassium inwardly-rectifying channel J1 isoform	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)						170.0	161.0	164.0					11																	128710054		2201	4297	6498	SO:0001583	missense	3758				excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity	g.chr11:128710054T>A	BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.142A>T	11.37:g.128710054T>A	ENSP00000376432:p.Arg48Trp					KCNJ1_uc001qep.1_Missense_Mutation_p.R29W|KCNJ1_uc001qeq.1_Missense_Mutation_p.R29W|KCNJ1_uc001qer.1_Missense_Mutation_p.R29W|KCNJ1_uc001qes.1_Missense_Mutation_p.R29W	p.R48W	NM_000220	NP_000211	P48048	IRK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	2	193	-	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)	48			Cytoplasmic (By similarity).		B2RMR4|Q6LD67	Missense_Mutation	SNP	ENST00000392664.2	37	c.142A>T	CCDS8476.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.264932	0.80358	.	.	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664;ENST00000324003	D;D;D;D;D;D	0.94417	-3.42;-3.42;-3.42;-3.42;-3.42;-3.42	5.66	5.66	0.87406	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.090251	0.64402	D	0.000001	D	0.97511	0.9185	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98325	1.0530	10	0.87932	D	0	.	15.8985	0.79353	0.0:0.0:0.0:1.0	.	48	P48048	IRK1_HUMAN	W	29;29;29;29;48;29	ENSP00000376433:R29W;ENSP00000376434:R29W;ENSP00000406320:R29W;ENSP00000316233:R29W;ENSP00000376432:R48W;ENSP00000316136:R29W	ENSP00000316136:R29W	R	-	1	2	KCNJ1	128215264	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.531000	0.60602	2.169000	0.68431	0.374000	0.22700	AGG		0.438	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220		10	293	0	0	0	0.006214	0	10	293				
ST14	6768	broad.mit.edu	37	11	130058061	130058061	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:130058061A>G	ENST00000278742.5	+	2	552	c.134A>G	c.(133-135)aAg>aGg	p.K45R		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	45					keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.K45R(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	AACAACGTCAAGAAGGTGGAA	0.617																																							uc001qfw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(133-135)AAG>AGG		matriptase	Urokinase(DB00013)						72.0	67.0	69.0					11																	130058061		2201	4297	6498	SO:0001583	missense	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130058061A>G	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.134A>G	11.37:g.130058061A>G	ENSP00000278742:p.Lys45Arg					ST14_uc010sca.1_5'Flank	p.K45R	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	2	327	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	45			Cytoplasmic (Potential).		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Missense_Mutation	SNP	ENST00000278742.5	37	c.134A>G	CCDS8487.1	.	.	.	.	.	.	.	.	.	.	A	11.65	1.702371	0.30232	.	.	ENSG00000149418	ENST00000278742	D	0.88818	-2.43	4.95	0.125	0.14718	.	0.705080	0.11579	N	0.549968	T	0.77343	0.4116	N	0.12961	0.28	0.80722	D	1	B	0.22746	0.074	B	0.22152	0.038	T	0.61466	-0.7057	10	0.21540	T	0.41	.	9.792	0.40710	0.7745:0.0:0.2255:0.0	.	45	Q9Y5Y6	ST14_HUMAN	R	45	ENSP00000278742:K45R	ENSP00000278742:K45R	K	+	2	0	ST14	129563271	1.000000	0.71417	0.862000	0.33874	0.429000	0.31625	1.823000	0.39062	0.090000	0.17273	0.533000	0.62120	AAG		0.617	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			36	51	0	0	0	0.01441	0	36	51				
OPCML	4978	broad.mit.edu	37	11	132307138	132307138	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:132307138C>T	ENST00000331898.7	-	4	1220	c.642G>A	c.(640-642)cgG>cgA	p.R214R	OPCML_ENST00000541867.1_Silent_p.R214R|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000374778.4_Silent_p.R173R|OPCML_ENST00000524381.1_Silent_p.R207R	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	214	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TTTTTACTTTCCGCACATCGG	0.542																																							uc001qgs.2		NA																	0				ovary(2)|skin(1)	3						c.(640-642)CGG>CGA		opioid binding protein/cell adhesion							130.0	118.0	122.0					11																	132307138		2201	4297	6498	SO:0001819	synonymous_variant	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132307138C>T	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.642G>A	11.37:g.132307138C>T						OPCML_uc001qgu.2_Silent_p.R207R|OPCML_uc010sck.1_Silent_p.R214R|OPCML_uc001qgt.2_Silent_p.R213R|OPCML_uc010scl.1_Silent_p.R173R	p.R214R	NM_002545	NP_002536	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	4	692	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	214			Ig-like C2-type 2.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Silent	SNP	ENST00000331898.7	37	c.642G>A	CCDS8492.1																																																																																				0.542	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		6	279	0	0	0	0.001984	0	6	279				
GLB1L2	89944	broad.mit.edu	37	11	134240907	134240907	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:134240907C>G	ENST00000535456.2	+	13	1409	c.1221C>G	c.(1219-1221)atC>atG	p.I407M	GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Missense_Mutation_p.I407M|GLB1L2_ENST00000389881.3_Missense_Mutation_p.I407M	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	407					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)	p.I407M(3)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CGCAGCCAATCAAGTCTGAAA	0.567																																							uc001qhp.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)|pancreas(1)|skin(1)	3						c.(1219-1221)ATC>ATG		galactosidase, beta 1-like 2 precursor							125.0	129.0	127.0					11																	134240907		2201	4297	6498	SO:0001583	missense	89944				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134240907C>G		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.1221C>G	11.37:g.134240907C>G	ENSP00000444628:p.Ile407Met					GLB1L2_uc009zdg.1_RNA	p.I407M	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)	13	1409	+	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)	407					A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Missense_Mutation	SNP	ENST00000535456.2	37	c.1221C>G	CCDS31724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.00|14.00	2.405868|2.405868	0.42715|0.42715	.|.	.|.	ENSG00000149328|ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881|ENST00000525089	D;D;D|.	0.94497|.	-3.44;-3.44;-3.44|.	5.77|5.77	2.8|2.8	0.32819|0.32819	.|.	0.568090|.	0.19812|.	N|.	0.105503|.	T|T	0.50973|0.50973	0.1647|0.1647	M|M	0.82517|0.82517	2.595|2.595	0.09310|0.09310	N|N	1|1	P|.	0.40376|.	0.715|.	B|.	0.41691|.	0.364|.	T|T	0.48103|0.48103	-0.9064|-0.9064	10|5	0.66056|.	D|.	0.02|.	-9.4308|-9.4308	4.1701|4.1701	0.10326|0.10326	0.1385:0.5899:0.1348:0.1368|0.1385:0.5899:0.1348:0.1368	.|.	407|.	Q8IW92|.	GLBL2_HUMAN|.	M|E	407|346	ENSP00000344659:I407M;ENSP00000444628:I407M;ENSP00000374531:I407M|.	ENSP00000344659:I407M|.	I|Q	+|+	3|1	3|0	GLB1L2|GLB1L2	133746117|133746117	0.002000|0.002000	0.14202|0.14202	0.007000|0.007000	0.13788|0.13788	0.058000|0.058000	0.15608|0.15608	0.052000|0.052000	0.14163|0.14163	0.856000|0.856000	0.35383|0.35383	0.655000|0.655000	0.94253|0.94253	ATC|CAA		0.567	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342		53	309	0	0	0	0.01441	0	53	309				
WNK1	65125	broad.mit.edu	37	12	970256	970256	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:970256G>C	ENST00000315939.6	+	7	2341	c.1698G>C	c.(1696-1698)aaG>aaC	p.K566N	WNK1_ENST00000530271.2_Missense_Mutation_p.K566N|WNK1_ENST00000537687.1_Missense_Mutation_p.K566N|WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000535572.1_Missense_Mutation_p.K566N|WNK1_ENST00000340908.4_Missense_Mutation_p.K159N	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	566					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.K566N(4)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CATTAATTAAGAGGAAACGAG	0.433																																					Colon(19;451 567 6672 12618 28860)	Colon(19;451 567 6672 12618 28860)	uc001qio.3		NA																	4	Substitution - Missense(4)		lung(4)	stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(1696-1698)AAG>AAC		WNK lysine deficient protein kinase 1							135.0	145.0	142.0					12																	970256		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:970256G>C	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1698G>C	12.37:g.970256G>C	ENSP00000313059:p.Lys566Asn					WNK1_uc001qip.3_Missense_Mutation_p.K566N|WNK1_uc001qir.3_Missense_Mutation_p.K13N	p.K566N	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		7	2205	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		566					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.1698G>C	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446423	0.63178	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28	5.67	3.86	0.44501	.	0.000000	0.64402	D	0.000002	T	0.35624	0.0938	M	0.76574	2.34	0.24394	N	0.994731	D;D;D	0.58620	0.978;0.978;0.983	D;D;P	0.63957	0.92;0.92;0.833	T	0.12041	-1.0563	10	0.52906	T	0.07	-12.0744	8.7059	0.34354	0.3468:0.0:0.6532:0.0	.	566;566;566	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	N	566;566;566;13;566;159	ENSP00000441972:K566N;ENSP00000313059:K566N;ENSP00000444465:K566N;ENSP00000433548:K566N;ENSP00000341292:K159N	ENSP00000252477:K13N	K	+	3	2	WNK1	840517	0.963000	0.33076	1.000000	0.80357	0.950000	0.60333	0.121000	0.15667	0.769000	0.33313	-0.218000	0.12543	AAG		0.433	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		78	323	0	0	0	0.01441	0	78	323				
PZP	5858	broad.mit.edu	37	12	9344799	9344799	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:9344799C>A	ENST00000261336.2	-	13	1564	c.1536G>T	c.(1534-1536)gaG>gaT	p.E512D	PZP_ENST00000381997.2_Missense_Mutation_p.E381D	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	512					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.E512D(2)|p.E381D(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TGTCTCCTGACTCCACAGGCA	0.463																																					Melanoma(125;1402 1695 4685 34487 38571)	Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(1534-1536)GAG>GAT		pregnancy-zone protein precursor							120.0	99.0	106.0					12																	9344799		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9344799C>A	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.1536G>T	12.37:g.9344799C>A	ENSP00000261336:p.Glu512Asp					PZP_uc009zgl.2_Missense_Mutation_p.E381D	p.E512D	NM_002864	NP_002855					13	1565	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.1536G>T	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.296399	0.23650	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.64085	-0.08;-0.08	3.34	0.231	0.15377	Alpha-2-macroglobulin, N-terminal 2 (1);	0.951349	0.08675	U	0.910259	T	0.55242	0.1908	M	0.72118	2.19	0.09310	N	1	B;B	0.21452	0.056;0.001	B;B	0.20955	0.032;0.012	T	0.45687	-0.9244	10	0.36615	T	0.2	.	2.9384	0.05822	0.2146:0.5271:0.0:0.2584	.	381;512	P20742-2;P20742	.;PZP_HUMAN	D	512;381	ENSP00000261336:E512D;ENSP00000371427:E381D	ENSP00000261336:E512D	E	-	3	2	PZP	9236066	0.000000	0.05858	0.001000	0.08648	0.608000	0.37181	-2.224000	0.01213	-0.218000	0.10018	0.467000	0.42956	GAG		0.463	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		17	34	1	0	1.67942e-08	0.006122	1.89176e-08	17	34				
DDX12P	440081	broad.mit.edu	37	12	9573997	9573997	+	IGR	SNP	T	T	G	rs187060396		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:9573997T>G								RP13-735L24.1 (23784 upstream) : SNORA75 (23656 downstream)																							CTGAGGCAGGTCTCTCTTCTG	0.617																																							uc010sgs.1		NA																	0					0						c.(2038-2040)GAC>GCC		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12							47.0	50.0	49.0					12																	9573997		692	1591	2283	SO:0001628	intergenic_variant	440081							g.chr12:9573997T>G																													12.37:g.9573997T>G						DDX12_uc001qvx.3_5'Flank|DDX12_uc001qvy.1_5'Flank	p.D680A	NM_004400	NP_004391					20	2234	-									Missense_Mutation	SNP		37	c.2039A>C																																																																																				0	0.617									7	12	0	0	0	0.008361	0	7	12				
CLEC7A	64581	broad.mit.edu	37	12	10280406	10280406	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:10280406C>T	ENST00000304084.8	-	2	296	c.142G>A	c.(142-144)Gta>Ata	p.V48I	CLEC7A_ENST00000533022.1_Missense_Mutation_p.V48I|CLEC7A_ENST00000525605.1_Missense_Mutation_p.V48I|CLEC7A_ENST00000353231.5_Missense_Mutation_p.V48I|CLEC7A_ENST00000298523.5_Missense_Mutation_p.V48I|CLEC7A_ENST00000396484.2_Intron|CLEC7A_ENST00000310002.4_Missense_Mutation_p.V48I	NM_197947.2	NP_922938.1	Q9BXN2	CLC7A_HUMAN	C-type lectin domain family 7, member A	48					carbohydrate mediated signaling (GO:0009756)|cell recognition (GO:0008037)|defense response to protozoan (GO:0042832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|MHC protein binding (GO:0042287)|signaling pattern recognition receptor activity (GO:0008329)	p.V48I(3)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						CCCAAAATTACAGCAATGAGG	0.483																																							uc001qxg.2		NA																	3	Substitution - Missense(3)		lung(3)	central_nervous_system(1)	1						c.(142-144)GTA>ATA		dendritic cell-associated C-type lectin 1							49.0	43.0	45.0					12																	10280406		2203	4299	6502	SO:0001583	missense	64581				carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding	g.chr12:10280406C>T	AY009090	CCDS8613.1, CCDS8614.1, CCDS8617.1, CCDS41753.1, CCDS41754.1, CCDS53744.1	12p13.2-p12.3	2014-09-17		2005-02-09	ENSG00000172243	ENSG00000172243		"""C-type lectin domain containing"""	14558	protein-coding gene	gene with protein product		606264	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 12"""	CLECSF12			Standard	XM_005253468		Approved	dectin-1, hDectin-1	uc001qxg.2	Q9BXN2	OTTHUMG00000133597	ENST00000304084.8:c.142G>A	12.37:g.10280406C>T	ENSP00000302569:p.Val48Ile					CLEC7A_uc001qxe.3_RNA|CLEC7A_uc001qxf.2_Missense_Mutation_p.V48I|CLEC7A_uc001qxh.2_Missense_Mutation_p.V48I|CLEC7A_uc001qxi.2_Missense_Mutation_p.V48I|CLEC7A_uc001qxj.2_Intron|CLEC7A_uc009zhg.1_Intron|CLEC7A_uc001qxk.1_RNA|CLEC7A_uc001qxl.1_Missense_Mutation_p.V48I|CLEC7A_uc010sgy.1_Missense_Mutation_p.V48I|CLEC7A_uc001qxm.1_Missense_Mutation_p.V48I|CLEC7A_uc001qxn.2_Missense_Mutation_p.V48I	p.V48I	NM_197947	NP_922938	Q9BXN2	CLC7A_HUMAN			2	329	-			48			Helical; Signal-anchor for type II membrane protein; (Potential).		B2R861|B7Z494|B7Z5A9|B7Z5B9|Q6IPS7|Q96D32|Q96DR9|Q96LD3|Q96PA4|Q96PA5|Q96PA6|Q96PA7|Q96PA8|Q9H1K3	Missense_Mutation	SNP	ENST00000304084.8	37	c.142G>A	CCDS41753.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866026	0.32977	.	.	ENSG00000172243	ENST00000353231;ENST00000298523;ENST00000304084;ENST00000533022;ENST00000310002;ENST00000525605	T;T;T;T	0.08282	4.86;3.27;3.11;3.11	4.1	3.19	0.36642	C-type lectin-like (1);	0.176969	0.27420	N	0.019459	T	0.13798	0.0334	L	0.28556	0.865	0.27316	N	0.957162	P;P;D;D;D;D;P	0.67145	0.869;0.869;0.981;0.962;0.996;0.973;0.95	B;P;P;P;D;P;P	0.76071	0.35;0.448;0.712;0.592;0.987;0.482;0.486	T	0.10636	-1.0621	10	0.17369	T	0.5	.	9.8484	0.41041	0.0:0.7914:0.2086:0.0	.	48;48;48;48;48;48;48	Q96D32;Q9BXN2-6;Q9BXN2-4;Q9BXN2-3;Q9BXN2-7;Q9BXN2;Q9BXN2-2	.;.;.;.;.;CLC7A_HUMAN;.	I	48	ENSP00000266456:V48I;ENSP00000298523:V48I;ENSP00000302569:V48I;ENSP00000431461:V48I	ENSP00000298523:V48I	V	-	1	0	CLEC7A	10171673	0.143000	0.22626	0.806000	0.32338	0.322000	0.28314	0.433000	0.21477	1.268000	0.44264	0.591000	0.81541	GTA		0.483	CLEC7A-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390772.1	NM_197954		4	4	0	0	0	0.009096	0	4	4				
SLCO1B3	28234	broad.mit.edu	37	12	21068974	21068974	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:21068974C>G	ENST00000381545.3	+	16	2121	c.1902C>G	c.(1900-1902)ttC>ttG	p.F634L	SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.F634L|LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	634					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	CTTTAAGATTCCCAGCACTTG	0.294																																							uc001rek.2		NA																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(1900-1902)TTC>TTG		solute carrier organic anion transporter family,							74.0	75.0	75.0					12																	21068974		2201	4299	6500	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21068974C>G		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1902C>G	12.37:g.21068974C>G	ENSP00000370956:p.Phe634Leu					SLCO1B3_uc001rel.2_Missense_Mutation_p.F634L|SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Intron	p.F634L	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN			15	2028	+	Esophageal squamous(101;0.149)		634			Helical; Name=12; (Potential).		E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	c.1902C>G	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	.	0.618	-0.822450	0.02755	.	.	ENSG00000111700	ENST00000261196;ENST00000381545	T;T	0.56776	0.44;0.44	3.6	-5.47	0.02600	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.011610	0.07931	N	0.977535	T	0.28764	0.0713	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34800	-0.9814	10	0.06494	T	0.89	.	2.181	0.03874	0.1439:0.1726:0.1431:0.5405	.	634	Q9NPD5	SO1B3_HUMAN	L	634	ENSP00000261196:F634L;ENSP00000370956:F634L	ENSP00000261196:F634L	F	+	3	2	SLCO1B3	20960241	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.715000	0.01880	-0.704000	0.05042	-0.277000	0.10078	TTC		0.294	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		5	172	0	0	0	0.001168	0	5	172				
SLCO1B1	10599	broad.mit.edu	37	12	21349976	21349976	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:21349976C>A	ENST00000256958.2	+	8	920	c.824C>A	c.(823-825)cCa>cAa	p.P275Q		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	275					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.P275Q(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TCTTCCATACCATTCTTTTTC	0.393																																							uc001req.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(823-825)CCA>CAA		solute carrier organic anion transporter family,	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						185.0	169.0	174.0					12																	21349976		2203	4300	6503	SO:0001583	missense	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21349976C>A		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.824C>A	12.37:g.21349976C>A	ENSP00000256958:p.Pro275Gln						p.P275Q	NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN			8	928	+			275			Helical; Name=6; (Potential).		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.824C>A	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919717	0.52653	.	.	ENSG00000134538	ENST00000256958	T	0.49432	0.78	3.08	3.08	0.35506	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.75525	0.3861	H	0.95328	3.655	0.48135	D	0.999596	D	0.89917	1.0	D	0.97110	1.0	T	0.83037	-0.0159	10	0.87932	D	0	.	12.3929	0.55368	0.0:1.0:0.0:0.0	.	275	Q9Y6L6	SO1B1_HUMAN	Q	275	ENSP00000256958:P275Q	ENSP00000256958:P275Q	P	+	2	0	SLCO1B1	21241243	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	5.799000	0.69101	1.707000	0.51288	0.313000	0.20887	CCA		0.393	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		19	332	1	0	1.56452e-12	0.007413	1.86695e-12	19	332				
SLCO1B1	10599	broad.mit.edu	37	12	21350017	21350017	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:21350017G>A	ENST00000256958.2	+	8	961	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	289					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.E289K(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	ACCACAAAAAGAAAGAAAAGC	0.353																																							uc001req.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(865-867)GAA>AAA		solute carrier organic anion transporter family,	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						134.0	126.0	129.0					12																	21350017		2203	4300	6503	SO:0001583	missense	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21350017G>A		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.865G>A	12.37:g.21350017G>A	ENSP00000256958:p.Glu289Lys						p.E289K	NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN			8	969	+			289			Cytoplasmic (Potential).		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.865G>A	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.260323	0.39995	.	.	ENSG00000134538	ENST00000256958	T	0.55234	0.53	3.08	2.18	0.27775	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.866260	0.02145	N	0.057490	T	0.47303	0.1438	L	0.43757	1.38	0.09310	N	0.999999	B	0.28636	0.218	B	0.32090	0.14	T	0.24905	-1.0147	10	0.20046	T	0.44	.	7.2749	0.26279	0.1311:0.0:0.8689:0.0	.	289	Q9Y6L6	SO1B1_HUMAN	K	289	ENSP00000256958:E289K	ENSP00000256958:E289K	E	+	1	0	SLCO1B1	21241284	0.131000	0.22433	0.046000	0.18839	0.567000	0.35839	0.291000	0.18994	0.616000	0.30141	0.313000	0.20887	GAA		0.353	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		12	276	0	0	0	0.020292	0	12	276				
ETNK1	55500	broad.mit.edu	37	12	22824222	22824222	+	Silent	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:22824222T>C	ENST00000266517.4	+	5	1073	c.984T>C	c.(982-984)atT>atC	p.I328I		NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	328					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TACAGTTCATTGATTATGAAT	0.299																																					Esophageal Squamous(42;87 913 3224 6226 43339)	Esophageal Squamous(42;87 913 3224 6226 43339)	uc001rft.2		NA																	0					0						c.(982-984)ATT>ATC		ethanolamine kinase 1 isoform A							155.0	169.0	164.0					12																	22824222		2203	4299	6502	SO:0001819	synonymous_variant	55500				phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity	g.chr12:22824222T>C	BC006111	CCDS8698.1, CCDS41760.1	12p12.2	2004-07-09			ENSG00000139163	ENSG00000139163			24649	protein-coding gene	gene with protein product		609858				11912161, 11044454	Standard	XM_005253420		Approved	EKI1, EKI	uc001rft.3	Q9HBU6	OTTHUMG00000169008	ENST00000266517.4:c.984T>C	12.37:g.22824222T>C						ETNK1_uc009ziz.2_Silent_p.I328I	p.I328I	NM_018638	NP_061108	Q9HBU6	EKI1_HUMAN			5	1006	+			328					G5E969	Silent	SNP	ENST00000266517.4	37	c.984T>C	CCDS8698.1	.	.	.	.	.	.	.	.	.	.	T	8.993	0.978295	0.18812	.	.	ENSG00000139163	ENST00000538218	.	.	.	5.23	1.15	0.20763	.	.	.	.	.	T	0.51398	0.1672	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42766	-0.9432	4	.	.	.	-5.6507	5.1443	0.14977	0.3587:0.0881:0.0:0.5532	.	.	.	.	S	319	.	.	L	+	2	0	ETNK1	22715489	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.542000	0.36137	0.795000	0.33922	0.372000	0.22366	TTG		0.299	ETNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401926.2	NM_018638		8	701	0	0	0	0.006214	0	8	701				
ASUN	55726	broad.mit.edu	37	12	27066454	27066454	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:27066454C>T	ENST00000261191.7	-	14	2277	c.1741G>A	c.(1741-1743)Gag>Aag	p.E581K	ASUN_ENST00000539625.1_Missense_Mutation_p.E480K	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	581					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											GACTTGTCCTCTTTGTCTTCC	0.453																																							uc001rhk.3		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1741-1743)GAG>AAG		hypothetical protein LOC55726							404.0	370.0	382.0					12																	27066454		2203	4300	6503	SO:0001583	missense	55726				cell division|mitosis|regulation of mitotic cell cycle		protein binding	g.chr12:27066454C>T	AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"""spermatogenesis associated 30"""	615079	"""chromosome 12 open reading frame 11"", ""asunder, spermatogenesis regulator homolog (Drosphila)"""	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.1741G>A	12.37:g.27066454C>T	ENSP00000261191:p.Glu581Lys					C12orf11_uc001rhj.3_Missense_Mutation_p.E149K|C12orf11_uc010sjk.1_Missense_Mutation_p.E480K	p.E581K	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN			14	2278	-	Colorectal(261;0.0847)		581			Potential.		B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	ENST00000261191.7	37	c.1741G>A	CCDS8708.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468222	0.63625	.	.	ENSG00000064102	ENST00000538155;ENST00000261191;ENST00000539625;ENST00000335745	T;T;T	0.43688	0.94;0.94;0.94	5.07	5.07	0.68467	.	0.107635	0.64402	D	0.000008	T	0.55481	0.1923	L	0.51422	1.61	0.80722	D	1	D;B	0.63880	0.993;0.145	P;B	0.59948	0.866;0.069	T	0.49925	-0.8887	9	.	.	.	-14.478	17.5062	0.87746	0.0:1.0:0.0:0.0	.	581;480	Q9NVM9;B4DNK1	M89BB_HUMAN;.	K	228;581;480;168	ENSP00000445645:E228K;ENSP00000261191:E581K;ENSP00000443724:E480K	.	E	-	1	0	C12orf11	26957721	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.451000	0.80668	2.727000	0.93392	0.591000	0.81541	GAG		0.453	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164		243	679	0	0	0	0.01441	0	243	679				
ASUN	55726	broad.mit.edu	37	12	27067485	27067485	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:27067485G>C	ENST00000261191.7	-	12	1811	c.1275C>G	c.(1273-1275)aaC>aaG	p.N425K	ASUN_ENST00000539625.1_Missense_Mutation_p.N324K	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	425					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											GAGTTAATCTGTTTTCCCTCA	0.338																																							uc001rhk.3		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1273-1275)AAC>AAG		hypothetical protein LOC55726							63.0	64.0	63.0					12																	27067485		2203	4300	6503	SO:0001583	missense	55726				cell division|mitosis|regulation of mitotic cell cycle		protein binding	g.chr12:27067485G>C	AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"""spermatogenesis associated 30"""	615079	"""chromosome 12 open reading frame 11"", ""asunder, spermatogenesis regulator homolog (Drosphila)"""	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.1275C>G	12.37:g.27067485G>C	ENSP00000261191:p.Asn425Lys					C12orf11_uc001rhj.3_Intron|C12orf11_uc010sjk.1_Missense_Mutation_p.N324K	p.N425K	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN			12	1812	-	Colorectal(261;0.0847)		425					B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	ENST00000261191.7	37	c.1275C>G	CCDS8708.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.021157|4.021157	0.75275|0.75275	.|.	.|.	ENSG00000064102|ENSG00000064102	ENST00000261191;ENST00000539625|ENST00000542392	T;T|.	0.42131|.	0.98;0.98|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76528|0.76528	0.4000|0.4000	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.81914|.	0.995|.	T|T	0.74287|0.74287	-0.3714|-0.3714	10|5	0.72032|.	D|.	0.01|.	-19.7524|-19.7524	19.9146|19.9146	0.97053|0.97053	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	425|.	Q9NVM9|.	M89BB_HUMAN|.	K|E	425;324|139	ENSP00000261191:N425K;ENSP00000443724:N324K|.	ENSP00000261191:N425K|.	N|Q	-|-	3|1	2|0	C12orf11|C12orf11	26958752|26958752	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.402000|6.402000	0.73260|0.73260	2.781000|2.781000	0.95711|0.95711	0.555000|0.555000	0.69702|0.69702	AAC|CAG		0.338	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164		12	401	0	0	0	0.013537	0	12	401				
ASUN	55726	broad.mit.edu	37	12	27078748	27078748	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:27078748G>A	ENST00000261191.7	-	6	1157	c.621C>T	c.(619-621)atC>atT	p.I207I	ASUN_ENST00000539625.1_Silent_p.I106I	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	207					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											GGTAGGTGTGGATCAAGACCA	0.323																																							uc001rhk.3		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(619-621)ATC>ATT		hypothetical protein LOC55726							113.0	110.0	111.0					12																	27078748		2203	4300	6503	SO:0001819	synonymous_variant	55726				cell division|mitosis|regulation of mitotic cell cycle		protein binding	g.chr12:27078748G>A	AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"""spermatogenesis associated 30"""	615079	"""chromosome 12 open reading frame 11"", ""asunder, spermatogenesis regulator homolog (Drosphila)"""	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.621C>T	12.37:g.27078748G>A						C12orf11_uc010sjk.1_Silent_p.I106I	p.I207I	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN			6	1158	-	Colorectal(261;0.0847)		207					B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Silent	SNP	ENST00000261191.7	37	c.621C>T	CCDS8708.1																																																																																				0.323	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164		256	551	0	0	0	0.01441	0	256	551				
FAR2	55711	broad.mit.edu	37	12	29486613	29486613	+	Silent	SNP	C	C	T	rs142204438		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:29486613C>T	ENST00000536681.3	+	12	1680	c.1434C>T	c.(1432-1434)gcC>gcT	p.A478A	FAR2_ENST00000547116.1_Silent_p.A381A|FAR2_ENST00000182377.4_Silent_p.A478A	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	478					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)	p.A478A(2)		central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						TCCTTATCGCCTGGCGCCTTC	0.438																																							uc001ris.3		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1432-1434)GCC>GCT		fatty acyl CoA reductase 2							225.0	221.0	223.0					12																	29486613		2203	4300	6503	SO:0001819	synonymous_variant	55711				ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	g.chr12:29486613C>T	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.1434C>T	12.37:g.29486613C>T						FAR2_uc001rit.2_Silent_p.A478A|FAR2_uc009zjm.2_Silent_p.A381A	p.A478A	NM_018099	NP_060569	Q96K12	FACR2_HUMAN			12	1581	+			478			Helical; (Potential).		F8VV73|Q9H0D5|Q9NVW8	Silent	SNP	ENST00000536681.3	37	c.1434C>T	CCDS8717.1																																																																																				0.438	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099		39	178	0	0	0	0.00623	0	39	178				
FGD4	121512	broad.mit.edu	37	12	32735077	32735077	+	Silent	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:32735077T>C	ENST00000427716.2	+	4	700	c.276T>C	c.(274-276)ggT>ggC	p.G92G	FGD4_ENST00000472289.1_Silent_p.G92G|FGD4_ENST00000534526.2_Silent_p.G229G|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000546442.1_5'UTR|FGD4_ENST00000525053.1_Silent_p.G204G|FGD4_ENST00000531134.1_Silent_p.G177G	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	92	Actin filament-binding. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|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.G92G(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TGGCCAACGGTGTAATGGCAG	0.488																																							uc001rkz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(274-276)GGT>GGC		FYVE, RhoGEF and PH domain containing 4							151.0	124.0	133.0					12																	32735077		2203	4300	6503	SO:0001819	synonymous_variant	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32735077T>C	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.276T>C	12.37:g.32735077T>C						FGD4_uc001rlc.2_Silent_p.G177G|FGD4_uc001rky.2_5'UTR|FGD4_uc001rla.2_5'UTR|FGD4_uc010ske.1_Silent_p.G204G|FGD4_uc001rlb.1_RNA|FGD4_uc001rkx.3_Silent_p.G92G	p.G92G	NM_139241	NP_640334	Q96M96	FGD4_HUMAN			4	753	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		92			Actin filament-binding (By similarity).		Q6ULS2|Q8TCP6	Silent	SNP	ENST00000427716.2	37	c.276T>C	CCDS8727.1																																																																																				0.488	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		13	541	0	0	0	0.003163	0	13	541				
KIF21A	55605	broad.mit.edu	37	12	39701384	39701384	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:39701384C>G	ENST00000361418.5	-	34	4440	c.4425G>C	c.(4423-4425)agG>agC	p.R1475S	KIF21A_ENST00000541463.2_Missense_Mutation_p.R1422S|KIF21A_ENST00000361961.3_Missense_Mutation_p.R1462S|KIF21A_ENST00000544797.2_Missense_Mutation_p.R1438S|KIF21A_ENST00000395670.3_Missense_Mutation_p.R1476S|KIF21A_ENST00000547745.1_5'Flank			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1475					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.R1462S(1)		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)				GATCCCACATCCTGACAGCAT	0.398																																							uc001rly.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(4423-4425)AGG>AGC		kinesin family member 21A							144.0	123.0	130.0					12																	39701384		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39701384C>G	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.4425G>C	12.37:g.39701384C>G	ENSP00000354878:p.Arg1475Ser					KIF21A_uc001rlv.2_Missense_Mutation_p.R420S|KIF21A_uc001rlw.2_Missense_Mutation_p.R745S|KIF21A_uc001rlx.2_Missense_Mutation_p.R1462S|KIF21A_uc001rlz.2_Missense_Mutation_p.R1422S|KIF21A_uc010skl.1_Missense_Mutation_p.R1438S|KIF21A_uc001rlt.2_Missense_Mutation_p.R95S|KIF21A_uc001rlu.2_Missense_Mutation_p.R95S	p.R1475S	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			34	4571	-		Lung NSC(34;0.179)|all_lung(34;0.213)	1475			WD 3.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.4425G>C	CCDS53776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.70|12.70	2.016192|2.016192	0.35606|0.35606	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000552961|ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463	.|D;D;D;T;D;T	.|0.83506	.|-1.73;-1.73;-1.73;1.96;-1.73;-0.18	5.72|5.72	2.1|2.1	0.27182|0.27182	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.000000	.|0.64402	.|D	.|0.000018	D|D	0.91019|0.91019	0.7175|0.7175	M|M	0.90082|0.90082	3.085|3.085	0.45139|0.45139	D|D	0.998153|0.998153	.|D;D;D;D;D;D	.|0.89917	.|0.996;0.996;1.0;0.996;1.0;1.0	.|D;D;D;D;D;D	.|0.91635	.|0.99;0.99;0.999;0.99;0.998;0.999	D|D	0.89545|0.89545	0.3795|0.3795	5|10	.|0.87932	.|D	.|0	.|.	9.2752|9.2752	0.37694|0.37694	0.0:0.2985:0.0:0.7015|0.0:0.2985:0.0:0.7015	.|.	.|1438;1422;1475;1462;1428;462	.|F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3;F5H0V8	.|.;.;KI21A_HUMAN;.;.;.	A|S	776|1462;1476;1428;462;456;1438;1475;1422	.|ENSP00000354851:R1462S;ENSP00000379029:R1476S;ENSP00000448792:R456S;ENSP00000445606:R1438S;ENSP00000354878:R1475S;ENSP00000438075:R1422S	.|ENSP00000344501:R1428S	G|R	-|-	2|3	0|2	KIF21A|KIF21A	37987651|37987651	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	0.260000|0.260000	0.18424|0.18424	0.121000|0.121000	0.18284|0.18284	-0.781000|-0.781000	0.03364|0.03364	GGA|AGG		0.398	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		10	122	0	0	0	0.006214	0	10	122				
KIF21A	55605	broad.mit.edu	37	12	39716581	39716581	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:39716581G>A	ENST00000361418.5	-	27	3575	c.3560C>T	c.(3559-3561)aCa>aTa	p.T1187I	KIF21A_ENST00000541463.2_Missense_Mutation_p.T1151I|KIF21A_ENST00000361961.3_Missense_Mutation_p.T1174I|KIF21A_ENST00000544797.2_Missense_Mutation_p.T1167I|KIF21A_ENST00000395670.3_Missense_Mutation_p.T1187I|KIF21A_ENST00000547745.1_5'Flank			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1187					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.T1174I(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)				TGCAACAGGTGTGAGAGGGCC	0.498																																							uc001rly.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(3559-3561)ACA>ATA		kinesin family member 21A							211.0	195.0	200.0					12																	39716581		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39716581G>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.3560C>T	12.37:g.39716581G>A	ENSP00000354878:p.Thr1187Ile					KIF21A_uc001rlv.2_Missense_Mutation_p.T192I|KIF21A_uc001rlw.2_Missense_Mutation_p.T504I|KIF21A_uc001rlx.2_Missense_Mutation_p.T1174I|KIF21A_uc001rlz.2_Missense_Mutation_p.T1151I|KIF21A_uc010skl.1_Missense_Mutation_p.T1167I	p.T1187I	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			27	3706	-		Lung NSC(34;0.179)|all_lung(34;0.213)	1187					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.3560C>T	CCDS53776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.228|8.228	0.804108|0.804108	0.16467|0.16467	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000552961|ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463	.|T;T;T;T;T;T	.|0.69435	.|-0.4;-0.36;0.39;-0.4;-0.32;-0.36	5.37|5.37	2.48|2.48	0.30137|0.30137	.|.	.|0.678999	.|0.13408	.|N	.|0.390138	T|T	0.54647|0.54647	0.1871|0.1871	L|L	0.43152|0.43152	1.355|1.355	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B	.|0.17667	.|0.023;0.0;0.0;0.0;0.0;0.001	.|B;B;B;B;B;B	.|0.21151	.|0.033;0.001;0.001;0.001;0.001;0.004	T|T	0.49254|0.49254	-0.8959|-0.8959	5|10	.|0.54805	.|T	.|0.06	.|.	4.6831|4.6831	0.12745|0.12745	0.1363:0.1211:0.6173:0.1252|0.1363:0.1211:0.6173:0.1252	.|.	.|1167;1151;1187;1174;1187;234	.|F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3;F5H0V8	.|.;.;KI21A_HUMAN;.;.;.	Y|I	535|1174;1187;1187;234;228;1167;1187;1151	.|ENSP00000354851:T1174I;ENSP00000379029:T1187I;ENSP00000448792:T228I;ENSP00000445606:T1167I;ENSP00000354878:T1187I;ENSP00000438075:T1151I	.|ENSP00000344501:T1187I	H|T	-|-	1|2	0|0	KIF21A|KIF21A	38002848|38002848	0.117000|0.117000	0.22190|0.22190	0.001000|0.001000	0.08648|0.08648	0.983000|0.983000	0.72400|0.72400	2.060000|2.060000	0.41394|0.41394	0.223000|0.223000	0.20920|0.20920	0.655000|0.655000	0.94253|0.94253	CAC|ACA		0.498	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		55	337	0	0	0	0.01441	0	55	337				
ADAMTS20	80070	broad.mit.edu	37	12	43856734	43856734	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:43856734C>T	ENST00000389420.3	-	11	1577	c.1578G>A	c.(1576-1578)gtG>gtA	p.V526V	ADAMTS20_ENST00000553158.1_Silent_p.V526V	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	526	Disintegrin.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V526V(4)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTGCTGGTGGCACGTGTTGAG	0.463																																							uc010skx.1		NA																	4	Substitution - coding silent(4)		lung(4)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(1576-1578)GTG>GTA		a disintegrin-like and metalloprotease with							155.0	120.0	132.0					12																	43856734		2203	4300	6503	SO:0001819	synonymous_variant	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43856734C>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1578G>A	12.37:g.43856734C>T							p.V526V	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	11	1578	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	526			Disintegrin.		A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	c.1578G>A	CCDS31778.2																																																																																				0.463	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		4	16	0	0	0	0.014758	0	4	16				
DBX2	440097	broad.mit.edu	37	12	45410296	45410296	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:45410296G>T	ENST00000332700.6	-	4	964	c.793C>A	c.(793-795)Ctc>Atc	p.L265I		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	265					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.L265I(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		GACCGTGAGAGGGGATCCTCT	0.483																																							uc001rok.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(793-795)CTC>ATC		developing brain homeobox 2							134.0	139.0	137.0					12																	45410296		2203	4300	6503	SO:0001583	missense	440097					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:45410296G>T		CCDS31781.1	12q12	2011-06-20				ENSG00000185610		"""Homeoboxes / ANTP class : NKL subclass"""	33186	protein-coding gene	gene with protein product						11239429	Standard	NM_001004329		Approved	FLJ16139	uc001rok.1	Q6ZNG2	OTTHUMG00000169559	ENST00000332700.6:c.793C>A	12.37:g.45410296G>T	ENSP00000331470:p.Leu265Ile						p.L265I	NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN		GBM - Glioblastoma multiforme(48;0.0515)	4	965	-	Lung SC(27;0.192)	Lung NSC(34;0.142)	265						Missense_Mutation	SNP	ENST00000332700.6	37	c.793C>A	CCDS31781.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.649290	0.47362	.	.	ENSG00000185610	ENST00000332700	D	0.91996	-2.95	5.41	3.44	0.39384	.	0.116143	0.38837	N	0.001558	D	0.84933	0.5582	N	0.24115	0.695	0.09310	N	1	B	0.25719	0.132	B	0.21546	0.035	T	0.75569	-0.3272	10	0.37606	T	0.19	-16.9556	13.036	0.58873	0.0:0.1156:0.7535:0.131	.	265	Q6ZNG2	DBX2_HUMAN	I	265	ENSP00000331470:L265I	ENSP00000331470:L265I	L	-	1	0	DBX2	43696563	0.987000	0.35691	0.088000	0.20740	0.986000	0.74619	2.672000	0.46850	2.529000	0.85273	0.650000	0.86243	CTC		0.483	DBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404810.1	NM_001004329		49	122	1	0	4.86159e-25	0.01441	6.40586e-25	49	122				
PCED1B	91523	broad.mit.edu	37	12	47471976	47471976	+	5'Flank	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:47471976A>G	ENST00000546455.1	+	0	0				AMIGO2_ENST00000550413.1_Silent_p.R270R|AMIGO2_ENST00000321382.3_Silent_p.R270R|AMIGO2_ENST00000266581.4_Silent_p.R270R|AMIGO2_ENST00000429635.1_Silent_p.R270R			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)	p.R270R(1)									GAAGTACCTGACGCGAGTGCC	0.493																																							uc001rpm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(808-810)CGT>CGC		adhesion molecule with Ig-like domain 2							90.0	86.0	87.0					12																	47471976		2203	4300	6503	SO:0001631	upstream_gene_variant	347902				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		g.chr12:47471976A>G	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47471976A>G	Exception_encountered					FAM113B_uc001rpn.2_5'Flank|AMIGO2_uc001rpk.2_Silent_p.R270R|AMIGO2_uc001rpl.2_Silent_p.R270R	p.R270R	NM_001143668	NP_001137140	Q86SJ2	AMGO2_HUMAN			3	1465	-	Renal(347;0.138)|Lung SC(27;0.192)		270			Extracellular (Potential).|LRRCT.		Q96B20	Silent	SNP	ENST00000546455.1	37	c.810T>C	CCDS8752.1																																																																																				0.493	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		8	120	0	0	0	0.00308	0	8	120				
TMEM106C	79022	broad.mit.edu	37	12	48358151	48358151	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:48358151C>T	ENST00000429772.2	+	2	245	c.132C>T	c.(130-132)acC>acT	p.T44T	TMEM106C_ENST00000552561.1_Silent_p.T44T|TMEM106C_ENST00000256686.6_Silent_p.T44T|TMEM106C_ENST00000449758.2_Silent_p.T44T|TMEM106C_ENST00000549288.1_Silent_p.T44T|TMEM106C_ENST00000552546.1_Intron|TMEM106C_ENST00000550552.1_Silent_p.T44T	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	44						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.T44T(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		TGGAATTCACCGGGAGAGATA	0.537																																							uc001rqp.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(130-132)ACC>ACT		transmembrane protein 106C isoform a							78.0	71.0	73.0					12																	48358151		2203	4300	6503	SO:0001819	synonymous_variant	79022					endoplasmic reticulum membrane|integral to membrane		g.chr12:48358151C>T	BC000854	CCDS8758.1, CCDS44867.1	12q13.1	2005-12-19				ENSG00000134291			28775	protein-coding gene	gene with protein product							Standard	NM_024056		Approved	MGC5576	uc001rqr.3	Q9BVX2	OTTHUMG00000169892	ENST00000429772.2:c.132C>T	12.37:g.48358151C>T						TMEM106C_uc001rqo.2_Silent_p.T44T|TMEM106C_uc001rqr.2_Silent_p.T44T|TMEM106C_uc001rqq.2_Silent_p.T44T	p.T44T	NM_024056	NP_076961	Q9BVX2	T106C_HUMAN		GBM - Glioblastoma multiforme(48;0.241)	2	247	+		Acute lymphoblastic leukemia(13;0.11)	44					B2R998|B7Z5M4|Q3B761	Silent	SNP	ENST00000429772.2	37	c.132C>T	CCDS8758.1	.	.	.	.	.	.	.	.	.	.	C	8.499	0.863930	0.17250	.	.	ENSG00000134291	ENST00000548965	.	.	.	3.98	-7.95	0.01148	.	.	.	.	.	T	0.36082	0.0954	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55805	-0.8083	4	.	.	.	-6.9848	1.9113	0.03287	0.2781:0.0933:0.3391:0.2895	.	.	.	.	L	43	.	.	P	+	2	0	TMEM106C	46644418	0.000000	0.05858	0.014000	0.15608	0.955000	0.61496	-5.694000	0.00104	-4.873000	0.00029	-1.129000	0.01985	CCG		0.537	TMEM106C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406452.1	NM_024056		18	38	0	0	0	0.007413	0	18	38				
COL2A1	1280	broad.mit.edu	37	12	48376677	48376677	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:48376677T>C	ENST00000380518.3	-	33	2311	c.2147A>G	c.(2146-2148)cAg>cGg	p.Q716R	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.Q647R	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	716	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.Q716R(2)|p.Q647R(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	ACGGGGACCCTGGAGGCCCTG	0.627																																							uc001rqu.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)|skin(1)	2						c.(2146-2148)CAG>CGG		collagen, type II, alpha 1 isoform 1 precursor	Collagenase(DB00048)						55.0	56.0	55.0					12																	48376677		2203	4300	6503	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48376677T>C	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.2147A>G	12.37:g.48376677T>C	ENSP00000369889:p.Gln716Arg					COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.Q647R	p.Q716R	NM_001844	NP_001835	P02458	CO2A1_HUMAN			33	2328	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	716			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.2147A>G	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	T	15.16	2.752064	0.49362	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.93189	-3.18;-3.18	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.93245	0.7848	L	0.36672	1.1	0.80722	D	1	P;D	0.54601	0.908;0.967	D;D	0.65140	0.922;0.932	D	0.90470	0.4452	10	0.12430	T	0.62	.	13.8279	0.63361	0.0:0.0:0.0:1.0	.	647;716	P02458-1;P02458	.;CO2A1_HUMAN	R	716;647;647	ENSP00000369889:Q716R;ENSP00000338213:Q647R	ENSP00000338213:Q647R	Q	-	2	0	COL2A1	46662944	0.998000	0.40836	1.000000	0.80357	0.891000	0.51852	2.761000	0.47589	2.097000	0.63578	0.533000	0.62120	CAG		0.627	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		67	97	0	0	0	0.01441	0	67	97				
WNT10B	7480	broad.mit.edu	37	12	49362003	49362003	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:49362003C>A	ENST00000301061.4	-	4	785	c.437G>T	c.(436-438)tGt>tTt	p.C146F	WNT10B_ENST00000403957.1_Missense_Mutation_p.C146F|WNT10B_ENST00000407467.1_Missense_Mutation_p.C146F	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	146					bone trabecula formation (GO:0060346)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to cAMP (GO:0071320)|cellular response to hydrostatic pressure (GO:0071464)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fungiform papilla development (GO:0061196)|G2/M transition of mitotic cell cycle (GO:0000086)|hematopoietic stem cell proliferation (GO:0071425)|lipid metabolic process (GO:0006629)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of anagen (GO:0051885)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of skeletal muscle tissue development (GO:0048641)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.C146F(2)		central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						CTTCCAGCCACAGCCACAGCT	0.622																																							uc001rss.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(4)|lung(3)	7						c.(436-438)TGT>TTT		wingless-type MMTV integration site family,							48.0	42.0	44.0					12																	49362003		2203	4300	6503	SO:0001583	missense	7480				axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr12:49362003C>A	X97057	CCDS8775.1	12q13	2009-01-02			ENSG00000169884	ENSG00000169884		"""Wingless-type MMTV integration sites"""	12775	protein-coding gene	gene with protein product		601906				9121776, 9284937, 18515319	Standard	NM_003394		Approved	WNT-12, SHFM6	uc001rss.3	O00744	OTTHUMG00000150734	ENST00000301061.4:c.437G>T	12.37:g.49362003C>A	ENSP00000301061:p.Cys146Phe					WNT10B_uc001rst.2_Missense_Mutation_p.C146F	p.C146F	NM_003394	NP_003385	O00744	WN10B_HUMAN			4	783	-			146					B2R7A5|O00747|Q4VAJ4|Q4VAJ5|Q8WZ97	Missense_Mutation	SNP	ENST00000301061.4	37	c.437G>T	CCDS8775.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947114	0.73672	.	.	ENSG00000169884	ENST00000301061;ENST00000407467;ENST00000403957	D;D;D	0.84442	-1.85;-1.85;-1.85	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.95389	0.8503	H	0.97611	4.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97003	0.9730	10	0.87932	D	0	.	17.6909	0.88269	0.0:1.0:0.0:0.0	.	146;146	Q4VAJ4;O00744	.;WN10B_HUMAN	F	146	ENSP00000301061:C146F;ENSP00000384691:C146F;ENSP00000385980:C146F	ENSP00000301061:C146F	C	-	2	0	WNT10B	47648270	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	7.783000	0.85696	2.552000	0.86080	0.561000	0.74099	TGT		0.622	WNT10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319864.1	NM_003394		20	45	1	0	5.35047e-06	0.01892	5.77792e-06	20	45				
TROAP	10024	broad.mit.edu	37	12	49719372	49719372	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:49719372G>T	ENST00000257909.3	+	4	502	c.426G>T	c.(424-426)ggG>ggT	p.G142G	TROAP_ENST00000547923.1_5'Flank|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000551245.1_Silent_p.G142G	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	142					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)		p.G142G(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GTCACCTGGGGCGCCAGCCTA	0.582																																							uc001rtx.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(424-426)GGG>GGT		tastin isoform 1							52.0	55.0	54.0					12																	49719372		2203	4300	6503	SO:0001819	synonymous_variant	10024				cell adhesion	cytoplasm		g.chr12:49719372G>T	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.426G>T	12.37:g.49719372G>T						TROAP_uc009zlh.2_Silent_p.G142G|TROAP_uc001rty.2_5'Flank	p.G142G	NM_005480	NP_005471	Q12815	TROAP_HUMAN			4	593	+			142					F8VSF9|Q6PJU7|Q8N5B2	Silent	SNP	ENST00000257909.3	37	c.426G>T	CCDS8784.1																																																																																				0.582	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		21	92	1	0	1.96292e-10	0.010504	2.26313e-10	21	92				
NCKAP1L	3071	broad.mit.edu	37	12	54925558	54925558	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:54925558C>G	ENST00000293373.6	+	25	2809	c.2730C>G	c.(2728-2730)atC>atG	p.I910M	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.I860M	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	910					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.I910M(2)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GCATGACCATCATTGGGGTTA	0.488																																							uc001sgc.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(1)	4						c.(2728-2730)ATC>ATG		NCK-associated protein 1-like							86.0	76.0	79.0					12																	54925558		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54925558C>G	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.2730C>G	12.37:g.54925558C>G	ENSP00000293373:p.Ile910Met					NCKAP1L_uc010sox.1_Missense_Mutation_p.I452M|NCKAP1L_uc010soy.1_Missense_Mutation_p.I860M	p.I910M	NM_005337	NP_005328	P55160	NCKPL_HUMAN			25	2809	+			910					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.2730C>G	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279793	0.59758	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.34859	1.34;1.34	4.64	2.67	0.31697	.	0.000000	0.85682	D	0.000000	T	0.52757	0.1754	M	0.80616	2.505	0.46078	D	0.998859	D	0.69078	0.997	D	0.81914	0.995	T	0.52449	-0.8574	10	0.41790	T	0.15	-22.3982	3.6869	0.08331	0.1955:0.6022:0.0:0.2023	.	910	P55160	NCKPL_HUMAN	M	910;860	ENSP00000293373:I910M;ENSP00000445596:I860M	ENSP00000293373:I910M	I	+	3	3	NCKAP1L	53211825	0.999000	0.42202	1.000000	0.80357	0.949000	0.60115	0.757000	0.26433	1.316000	0.45131	0.655000	0.94253	ATC		0.488	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		31	90	0	0	0	0.015359	0	31	90				
SLC35E3	55508	broad.mit.edu	37	12	69140237	69140237	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:69140237G>T	ENST00000398004.2	+	1	352	c.80G>T	c.(79-81)tGc>tTc	p.C27F		NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E3	27						integral component of membrane (GO:0016021)		p.C27F(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			GTGTCCATCTGCATTGTGTTC	0.592																																							uc001suh.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(79-81)TGC>TTC		solute carrier family 35, member E2							57.0	61.0	60.0					12																	69140237		2016	4174	6190	SO:0001583	missense	55508					integral to membrane		g.chr12:69140237G>T	AF148713, AY358943	CCDS41808.1	12q15	2014-09-04			ENSG00000175782	ENSG00000175782		"""Solute carriers"""	20864	protein-coding gene	gene with protein product						12975309	Standard	XM_005269006		Approved	BLOV1	uc001suh.3	Q7Z769	OTTHUMG00000169282	ENST00000398004.2:c.80G>T	12.37:g.69140237G>T	ENSP00000381089:p.Cys27Phe						p.C27F	NM_018656	NP_061126	Q7Z769	S35E3_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)		1	302	+	Breast(13;2.31e-06)|Renal(347;0.0684)		27			Helical; (Potential).		A8K0T0|Q0P5Y5|Q9P0V1	Missense_Mutation	SNP	ENST00000398004.2	37	c.80G>T	CCDS41808.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.080176	0.55753	.	.	ENSG00000175782	ENST00000398004	T	0.54675	0.56	4.98	4.98	0.66077	.	.	.	.	.	T	0.49406	0.1555	L	0.49126	1.545	0.80722	D	1	B	0.26002	0.139	B	0.24974	0.057	T	0.42865	-0.9426	8	.	.	.	-3.4517	18.635	0.91374	0.0:0.0:1.0:0.0	.	27	Q7Z769	S35E3_HUMAN	F	27	ENSP00000381089:C27F	.	C	+	2	0	SLC35E3	67426504	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	9.008000	0.93601	2.467000	0.83353	0.591000	0.81541	TGC		0.592	SLC35E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403241.1	NM_018656		25	56	1	0	3.28513e-13	0.021523	3.95021e-13	25	56				
KCNC2	3747	broad.mit.edu	37	12	75444633	75444633	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:75444633C>A	ENST00000549446.1	-	3	1832	c.1152G>T	c.(1150-1152)ctG>ctT	p.L384L	KCNC2_ENST00000548513.1_Silent_p.L384L|KCNC2_ENST00000393288.2_Silent_p.L384L|KCNC2_ENST00000298972.1_Silent_p.L384L|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000550433.1_Silent_p.L384L|KCNC2_ENST00000341669.3_Silent_p.L384L|KCNC2_ENST00000350228.2_Silent_p.L384L|KCNC2_ENST00000540018.1_Silent_p.L384L	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	384					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.L384L(4)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	AAATTATCAGCAGCAAAAATT	0.453																																							uc001sxg.1		NA																	4	Substitution - coding silent(4)		lung(4)	breast(2)|pancreas(2)|skin(1)|lung(1)	6						c.(1150-1152)CTG>CTT		Shaw-related voltage-gated potassium channel							55.0	54.0	54.0					12																	75444633		2203	4300	6503	SO:0001819	synonymous_variant	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75444633C>A	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.1152G>T	12.37:g.75444633C>A						KCNC2_uc009zry.2_Silent_p.L384L|KCNC2_uc001sxe.2_Silent_p.L384L|KCNC2_uc001sxf.2_Silent_p.L384L|KCNC2_uc010stw.1_Silent_p.L384L	p.L384L	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN			3	1696	-			384			Helical; Name=Segment S5; (Potential).		B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Silent	SNP	ENST00000549446.1	37	c.1152G>T	CCDS9007.1																																																																																				0.453	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		18	73	1	0	2.5808e-16	0.006122	3.20657e-16	18	73				
OSBPL8	114882	broad.mit.edu	37	12	76786490	76786490	+	Missense_Mutation	SNP	G	G	A	rs200981313		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:76786490G>A	ENST00000261183.3	-	10	1279	c.800C>T	c.(799-801)tCt>tTt	p.S267F	OSBPL8_ENST00000393249.2_Missense_Mutation_p.S225F|OSBPL8_ENST00000393250.4_Missense_Mutation_p.S225F	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	267					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)	p.S267F(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						AAGAAGACTAGAACATTTCAA	0.383																																							uc001sye.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(799-801)TCT>TTT		oxysterol-binding protein-like protein 8 isoform							194.0	159.0	171.0					12																	76786490		2203	4300	6503	SO:0001583	missense	114882				lipid transport		lipid binding	g.chr12:76786490G>A	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.800C>T	12.37:g.76786490G>A	ENSP00000261183:p.Ser267Phe					OSBPL8_uc001syf.1_Missense_Mutation_p.S225F|OSBPL8_uc001syg.1_Missense_Mutation_p.S225F|OSBPL8_uc001syh.1_Missense_Mutation_p.S242F	p.S267F	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN			10	1280	-			267					A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	ENST00000261183.3	37	c.800C>T	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954123	0.92726	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946	T;T;T;T;T	0.53857	1.13;1.07;1.13;0.61;0.6	5.63	5.63	0.86233	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.72882	0.3516	M	0.67397	2.05	0.80722	D	1	D;D	0.76494	0.999;0.992	D;D	0.77557	0.99;0.923	T	0.73994	-0.3807	10	0.87932	D	0	-11.6365	20.0401	0.97581	0.0:0.0:1.0:0.0	.	242;267	F8VUA7;Q9BZF1	.;OSBL8_HUMAN	F	225;267;252;225;267;267;242	ENSP00000376939:S225F;ENSP00000261183:S267F;ENSP00000376940:S225F;ENSP00000450238:S267F;ENSP00000447893:S242F	ENSP00000261183:S267F	S	-	2	0	OSBPL8	75310621	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.805000	0.96524	0.655000	0.94253	TCT		0.383	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841		15	66	0	0	0	0.003163	0	15	66				
MGAT4C	25834	broad.mit.edu	37	12	86373677	86373677	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:86373677A>G	ENST00000604798.1	-	8	2031	c.827T>C	c.(826-828)tTa>tCa	p.L276S	MGAT4C_ENST00000393205.2_Missense_Mutation_p.L305S|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000332156.1_Missense_Mutation_p.L276S|MGAT4C_ENST00000549405.2_Missense_Mutation_p.L276S|MGAT4C_ENST00000552808.2_Missense_Mutation_p.L276S|MGAT4C_ENST00000548651.1_Missense_Mutation_p.L276S			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	276					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.L276S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AAACATTAATAAAAAATGGGC	0.383																																							uc001tai.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(826-828)TTA>TCA		alpha-1,3-mannosyl-glycoprotein							60.0	60.0	60.0					12																	86373677		2203	4300	6503	SO:0001583	missense	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86373677A>G		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.827T>C	12.37:g.86373677A>G	ENSP00000474896:p.Leu276Ser					MGAT4C_uc001tal.3_Missense_Mutation_p.L276S|MGAT4C_uc001taj.3_Missense_Mutation_p.L276S|MGAT4C_uc001tak.3_Missense_Mutation_p.L276S|MGAT4C_uc010sum.1_Missense_Mutation_p.L300S|MGAT4C_uc001tah.3_Missense_Mutation_p.L276S	p.L276S	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN			8	2077	-			276			Lumenal (Potential).		B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	c.827T>C	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	A	13.74	2.327287	0.41197	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6	5.75	5.75	0.90469	.	0.082464	0.52532	D	0.000075	T	0.76744	0.4030	M	0.87097	2.86	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81395	-0.0952	10	0.87932	D	0	-12.6387	16.1254	0.81392	1.0:0.0:0.0:0.0	.	305;276	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	S	276;305;276;276;276;276;276	ENSP00000331664:L276S;ENSP00000376900:L305S;ENSP00000449022:L276S;ENSP00000446647:L276S;ENSP00000447253:L276S;ENSP00000449172:L276S	ENSP00000331664:L276S	L	-	2	0	MGAT4C	84897808	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	9.279000	0.95777	2.195000	0.70347	0.529000	0.55759	TTA		0.383	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		24	51	0	0	0	0.016522	0	24	51				
SLC5A8	160728	broad.mit.edu	37	12	101576622	101576622	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:101576622G>A	ENST00000536262.2	-	9	1682	c.1124C>T	c.(1123-1125)tCg>tTg	p.S375L		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8									p.S375L(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTCTGAGAGCGATCTGAAGTA	0.368																																					GBM(60;420 1056 13605 22380 47675)	GBM(60;420 1056 13605 22380 47675)	uc001thz.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1123-1125)TCG>TTG		solute carrier family 5 (iodide transporter),							103.0	99.0	100.0					12																	101576622		2203	4300	6503	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101576622G>A	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1124C>T	12.37:g.101576622G>A	ENSP00000445340:p.Ser375Leu						p.S375L	NM_145913	NP_666018	Q8N695	SC5A8_HUMAN			9	1514	-			375			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000536262.2	37	c.1124C>T	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622124	0.46840	.	.	ENSG00000256870	ENST00000536262	D	0.88354	-2.37	5.58	5.58	0.84498	.	0.286677	0.33980	N	0.004379	D	0.89726	0.6798	L	0.58583	1.82	0.25381	N	0.988611	P	0.47545	0.897	P	0.46253	0.509	D	0.83954	0.0318	10	0.40728	T	0.16	.	19.5567	0.95351	0.0:0.0:1.0:0.0	.	375	Q8N695	SC5A8_HUMAN	L	375	ENSP00000445340:S375L	ENSP00000445340:S375L	S	-	2	0	SLC5A8	100100753	0.974000	0.33945	0.012000	0.15200	0.368000	0.29767	6.285000	0.72658	2.641000	0.89580	0.650000	0.86243	TCG		0.368	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		14	64	0	0	0	0.004007	0	14	64				
STAB2	55576	broad.mit.edu	37	12	104098343	104098343	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:104098343G>A	ENST00000388887.2	+	36	4055	c.3851G>A	c.(3850-3852)tGt>tAt	p.C1284Y		NM_017564.9	NP_060034.9			stabilin 2									p.C1284Y(2)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AAGGGAAGATGTAGGACATGC	0.373																																							uc001tjw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)	14						c.(3850-3852)TGT>TAT		stabilin 2 precursor							111.0	111.0	111.0					12																	104098343		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104098343G>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.3851G>A	12.37:g.104098343G>A	ENSP00000373539:p.Cys1284Tyr						p.C1284Y	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			36	4037	+			1284			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000388887.2	37	c.3851G>A	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496015	0.44352	.	.	ENSG00000136011	ENST00000388887	T	0.70282	-0.47	5.65	5.65	0.86999	Growth factor, receptor (1);	0.050276	0.85682	D	0.000000	D	0.88636	0.6490	H	0.95004	3.61	0.48040	D	0.999576	D	0.89917	1.0	D	0.85130	0.997	D	0.90986	0.4831	10	0.72032	D	0.01	.	16.823	0.85923	0.0:0.0:1.0:0.0	.	1284	Q8WWQ8	STAB2_HUMAN	Y	1284	ENSP00000373539:C1284Y	ENSP00000373539:C1284Y	C	+	2	0	STAB2	102622473	1.000000	0.71417	0.993000	0.49108	0.018000	0.09664	5.413000	0.66399	2.827000	0.97445	0.650000	0.86243	TGT		0.373	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			18	37	0	0	0	0.00499	0	18	37				
KIAA1033	23325	broad.mit.edu	37	12	105538144	105538144	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:105538144G>T	ENST00000332180.5	+	21	2177	c.2090G>T	c.(2089-2091)cGa>cTa	p.R697L		NM_015275.1	NP_056090.1			KIAA1033									p.R697L(2)|p.R697Q(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						CTGGATGACCGAAACCCTTTC	0.373																																							uc001tld.2		NA																	3	Substitution - Missense(3)		lung(3)	kidney(1)|central_nervous_system(1)	2						c.(2089-2091)CGA>CTA		hypothetical protein LOC23325							133.0	130.0	131.0					12																	105538144		1815	4072	5887	SO:0001583	missense	23325				endosome transport	WASH complex		g.chr12:105538144G>T	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.2090G>T	12.37:g.105538144G>T	ENSP00000328062:p.Arg697Leu					KIAA1033_uc010swr.1_Missense_Mutation_p.R698L|KIAA1033_uc010sws.1_Missense_Mutation_p.R509L	p.R697L	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN			21	2177	+			697						Missense_Mutation	SNP	ENST00000332180.5	37	c.2090G>T	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	G	34	5.316429	0.95655	.	.	ENSG00000136051	ENST00000332180	T	0.44881	0.91	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.59487	0.2197	M	0.66939	2.045	0.80722	D	1	P;P	0.49783	0.928;0.928	P;P	0.53988	0.739;0.739	T	0.56159	-0.8025	10	0.51188	T	0.08	.	20.5934	0.99428	0.0:0.0:1.0:0.0	.	698;697	B7ZKT9;Q2M389	.;WASH7_HUMAN	L	697	ENSP00000328062:R697L	ENSP00000328062:R697L	R	+	2	0	KIAA1033	104062274	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.808000	0.99193	2.872000	0.98467	0.650000	0.86243	CGA		0.373	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275		31	99	1	0	3.11337e-16	0.013726	3.85606e-16	31	99				
CRY1	1407	broad.mit.edu	37	12	107393851	107393851	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:107393851C>T	ENST00000008527.5	-	6	1561	c.694G>A	c.(694-696)Gca>Aca	p.A232T		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	232					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TCAAAATTTGCCACCCAAGCC	0.348																																							uc001tmi.3		NA																	0				ovary(3)	3						c.(694-696)GCA>ACA		cryptochrome 1 (photolyase-like)							69.0	70.0	69.0					12																	107393851		2203	4300	6503	SO:0001583	missense	1407				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding	g.chr12:107393851C>T	BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"""cryptochrome 1 (photolyase-like)"""	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.694G>A	12.37:g.107393851C>T	ENSP00000008527:p.Ala232Thr						p.A232T	NM_004075	NP_004066	Q16526	CRY1_HUMAN			6	1553	-			232			FAD-binding.			Missense_Mutation	SNP	ENST00000008527.5	37	c.694G>A	CCDS9112.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519145	0.85495	.	.	ENSG00000008405	ENST00000008527	.	.	.	6.0	6.0	0.97389	DNA photolyase, FAD-binding/Cryptochrome, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.66509	0.2796	M	0.71206	2.165	0.80722	D	1	P	0.36171	0.541	B	0.37550	0.253	T	0.64127	-0.6480	9	0.35671	T	0.21	-17.2375	20.4946	0.99205	0.0:1.0:0.0:0.0	.	232	Q16526	CRY1_HUMAN	T	232	.	ENSP00000008527:A232T	A	-	1	0	CRY1	105917981	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.846000	0.97976	0.650000	0.86243	GCA		0.348	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075		4	82	0	0	0	0.009096	0	4	82				
CMKLR1	1240	broad.mit.edu	37	12	108686656	108686656	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:108686656C>T	ENST00000312143.7	-	3	447	c.84G>A	c.(82-84)ttG>ttA	p.L28L	CMKLR1_ENST00000552995.1_Silent_p.L26L|CMKLR1_ENST00000550402.1_Silent_p.L28L|CMKLR1_ENST00000397688.2_Silent_p.L26L|CMKLR1_ENST00000412676.1_Silent_p.L28L	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	28					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)	p.L26L(2)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						ATAAGTCCTCCAAAACCACAA	0.493																																							uc009zuw.2		NA																	2	Substitution - coding silent(2)		lung(2)	lung(3)|ovary(1)|pancreas(1)	5						c.(82-84)TTG>TTA		chemokine-like receptor 1 isoform a							65.0	62.0	63.0					12																	108686656		1941	4148	6089	SO:0001819	synonymous_variant	1240				chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	g.chr12:108686656C>T	U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"""GPCR / Class A : Resolvin receptors"""	2121	protein-coding gene	gene with protein product	"""resolvin E1 receptor"", ""chemerin receptor"""	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.84G>A	12.37:g.108686656C>T						CMKLR1_uc001tmw.2_Silent_p.L28L|CMKLR1_uc001tmv.2_Silent_p.L26L|CMKLR1_uc009zuv.2_Silent_p.L28L	p.L28L	NM_001142345	NP_001135817	Q99788	CML1_HUMAN			3	275	-			28			Extracellular (Potential).		A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Silent	SNP	ENST00000312143.7	37	c.84G>A	CCDS44965.1																																																																																				0.493	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404867.1			30	49	0	0	0	0.007291	0	30	49				
ACACB	32	broad.mit.edu	37	12	109647064	109647064	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:109647064G>A	ENST00000338432.7	+	21	3274	c.3155G>A	c.(3154-3156)cGc>cAc	p.R1052H	ACACB_ENST00000377854.5_Missense_Mutation_p.R1052H|ACACB_ENST00000377848.3_Missense_Mutation_p.R1052H			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1052					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GTGGCAGGCCGCATCCCCGCC	0.637																																							uc001tob.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(3154-3156)CGC>CAC		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						37.0	31.0	33.0					12																	109647064		2202	4296	6498	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109647064G>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.3155G>A	12.37:g.109647064G>A	ENSP00000341044:p.Arg1052His					ACACB_uc001toc.2_Missense_Mutation_p.R1052H	p.R1052H	NM_001093	NP_001084	O00763	ACACB_HUMAN			21	3274	+			1052					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.3155G>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119344	0.77323	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	T;T;T	0.63744	-0.06;-0.06;-0.06	5.42	5.42	0.78866	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	D	0.84611	0.5510	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.88243	0.2911	10	0.87932	D	0	.	19.2418	0.93887	0.0:0.0:1.0:0.0	.	1052	O00763	ACACB_HUMAN	H	1052;1052;1052;283	ENSP00000341044:R1052H;ENSP00000367079:R1052H;ENSP00000367085:R1052H	ENSP00000341044:R1052H	R	+	2	0	ACACB	108131447	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	9.756000	0.98918	2.537000	0.85549	0.655000	0.94253	CGC		0.637	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		3	13	0	0	0	0.004672	0	3	13				
HVCN1	84329	broad.mit.edu	37	12	111099066	111099066	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:111099066G>A	ENST00000356742.5	-	3	962	c.209C>T	c.(208-210)gCa>gTa	p.A70V	HVCN1_ENST00000548312.1_Missense_Mutation_p.A70V|HVCN1_ENST00000439744.2_Missense_Mutation_p.A50V|HVCN1_ENST00000242607.8_Missense_Mutation_p.A70V			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	70					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)	p.A70V(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						GTCAGGGGCTGCAGCTCTGCC	0.607																																							uc001trs.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(208-210)GCA>GTA		hydrogen voltage-gated channel 1							56.0	61.0	59.0					12																	111099066		2203	4300	6503	SO:0001583	missense	84329				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	g.chr12:111099066G>A	BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"""Voltage-gated ion channels / Hydrogen voltage-gated channel"""	28240	protein-coding gene	gene with protein product	"""voltage sensor domain-only protein"""	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.209C>T	12.37:g.111099066G>A	ENSP00000349181:p.Ala70Val					HVCN1_uc001trq.1_Missense_Mutation_p.A70V|HVCN1_uc001trt.1_Missense_Mutation_p.A70V|HVCN1_uc010syd.1_Missense_Mutation_p.A50V	p.A70V	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN			4	374	-			70			Cytoplasmic (Potential).		A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Missense_Mutation	SNP	ENST00000356742.5	37	c.209C>T	CCDS31900.1	.	.	.	.	.	.	.	.	.	.	g	9.983	1.228724	0.22542	.	.	ENSG00000122986	ENST00000548312;ENST00000242607;ENST00000356742;ENST00000439744;ENST00000546713	T;T;T;T	0.43688	0.94;0.94;0.94;0.95	4.91	-2.17	0.07059	.	0.866866	0.09672	N	0.770912	T	0.23210	0.0561	N	0.16478	0.41	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.001;0.002	T	0.20042	-1.0287	10	0.28530	T	0.3	0.1596	8.0986	0.30844	0.1481:0.0:0.1882:0.6636	.	70;70	Q96D96;Q96D96-3	HVCN1_HUMAN;.	V	70;70;70;50;70	ENSP00000449601:A70V;ENSP00000242607:A70V;ENSP00000349181:A70V;ENSP00000412052:A50V	ENSP00000242607:A70V	A	-	2	0	HVCN1	109583449	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.047000	0.14056	-0.667000	0.05303	0.457000	0.33378	GCA		0.607	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369		10	50	0	0	0	0.016723	0	10	50				
DHX37	57647	broad.mit.edu	37	12	125435313	125435313	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:125435313C>A	ENST00000308736.2	-	22	3004	c.2906G>T	c.(2905-2907)aGc>aTc	p.S969I	DHX37_ENST00000544745.1_Missense_Mutation_p.S756I	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	969							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.S969I(2)		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)		AAGGACGGAGCTGGGGTGGAT	0.567																																							uc001ugy.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(2905-2907)AGC>ATC		DEAH (Asp-Glu-Ala-His) box polypeptide 37							91.0	103.0	99.0					12																	125435313		2203	4300	6503	SO:0001583	missense	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125435313C>A	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.2906G>T	12.37:g.125435313C>A	ENSP00000311135:p.Ser969Ile					DHX37_uc001ugz.1_Missense_Mutation_p.S56I	p.S969I	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	22	3005	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		969					Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	c.2906G>T	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763832	0.49574	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.04156	3.75;3.69	5.26	4.37	0.52481	Domain of unknown function DUF1605 (1);	0.267892	0.47455	D	0.000238	T	0.25195	0.0612	M	0.93375	3.41	0.48452	D	0.99965	D;D	0.62365	0.968;0.991	P;D	0.64506	0.768;0.926	T	0.04400	-1.0954	10	0.87932	D	0	-13.8292	9.4073	0.38469	0.0:0.7794:0.1453:0.0753	.	756;969	F5H3Y4;Q8IY37	.;DHX37_HUMAN	I	969;756	ENSP00000311135:S969I;ENSP00000439009:S756I	ENSP00000311135:S969I	S	-	2	0	DHX37	124001266	0.987000	0.35691	0.994000	0.49952	0.484000	0.33280	0.952000	0.29149	1.205000	0.43262	-0.305000	0.09177	AGC		0.567	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		158	120	1	0	1.08359e-82	0.01441	1.55592e-82	158	120				
ANKLE2	23141	broad.mit.edu	37	12	133331681	133331681	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:133331681G>C	ENST00000357997.5	-	2	309	c.220C>G	c.(220-222)Ctt>Gtt	p.L74V	ANKLE2_ENST00000337516.5_Missense_Mutation_p.L74V|ANKLE2_ENST00000539605.1_Missense_Mutation_p.L12V	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	74	LEM. {ECO:0000255|PROSITE- ProRule:PRU00313}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)	p.L74V(2)		NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GGATTCAGAAGTTTCAATCGA	0.403																																							uc001ukx.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(220-222)CTT>GTT		ankyrin repeat and LEM domain containing 2							84.0	79.0	81.0					12																	133331681		1873	4112	5985	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133331681G>C	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.220C>G	12.37:g.133331681G>C	ENSP00000350686:p.Leu74Val					ANKLE2_uc001uky.3_Missense_Mutation_p.L12V	p.L74V	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	2	287	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	74			LEM.		A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.220C>G	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	G	8.987	0.976883	0.18812	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516	T;T;T	0.30981	1.93;1.92;1.51	5.4	4.46	0.54185	LEM-like domain (2);Lamino-associated polypeptide 2/emerin (1);	0.510544	0.22209	N	0.063124	T	0.33177	0.0854	N	0.22421	0.69	0.23962	N	0.996335	P;D	0.59357	0.919;0.985	B;P	0.55824	0.275;0.785	T	0.10132	-1.0643	10	0.30854	T	0.27	-17.6605	14.0222	0.64563	0.0:0.1222:0.7656:0.1122	.	74;74	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	V	12;74;74	ENSP00000446268:L12V;ENSP00000350686:L74V;ENSP00000337651:L74V	ENSP00000337651:L74V	L	-	1	0	ANKLE2	131841754	1.000000	0.71417	1.000000	0.80357	0.337000	0.28794	2.616000	0.46376	2.549000	0.85964	0.644000	0.83932	CTT		0.403	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			32	133	0	0	0	0.009535	0	32	133				
FRY	10129	broad.mit.edu	37	13	32776615	32776615	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr13:32776615A>T	ENST00000380250.3	+	31	4465	c.3969A>T	c.(3967-3969)tcA>tcT	p.S1323S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1323						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.S1323S(2)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCCTCTTGTCATGTGAGCTGG	0.493																																							uc001utx.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(3967-3969)TCA>TCT		furry homolog							81.0	81.0	81.0					13																	32776615		2004	4164	6168	SO:0001819	synonymous_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32776615A>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.3969A>T	13.37:g.32776615A>T						FRY_uc010tdw.1_RNA	p.S1323S	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	31	4465	+		Lung SC(185;0.0271)	1323					Q9Y3N6	Silent	SNP	ENST00000380250.3	37	c.3969A>T	CCDS41875.1																																																																																				0.493	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		88	66	0	0	0	0.01441	0	88	66				
DCLK1	9201	broad.mit.edu	37	13	36700141	36700141	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr13:36700141C>A	ENST00000360631.3	-	2	345	c.134G>T	c.(133-135)cGc>cTc	p.R45L	DCLK1_ENST00000255448.4_Missense_Mutation_p.R45L|DCLK1_ENST00000379892.4_Missense_Mutation_p.R45L			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	45					axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)	p.R45L(4)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CTGCAGCGTGCGGGTGCGGTA	0.592																																							uc001uvf.2		NA																	4	Substitution - Missense(4)		lung(4)	stomach(6)|ovary(2)|skin(1)	9						c.(133-135)CGC>CTC		doublecortin-like kinase 1							72.0	68.0	70.0					13																	36700141		2203	4300	6503	SO:0001583	missense	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36700141C>A	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.134G>T	13.37:g.36700141C>A	ENSP00000353846:p.Arg45Leu						p.R45L	NM_004734	NP_004725	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	2	367	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	45					B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.134G>T		.	.	.	.	.	.	.	.	.	.	C	26.2	4.718191	0.89205	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	T;T;T	0.70631	-0.5;-0.5;1.51	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.74191	0.3684	M	0.70275	2.135	0.80722	D	1	P	0.35411	0.5	B	0.37267	0.245	T	0.76421	-0.2965	10	0.72032	D	0.01	.	19.7802	0.96413	0.0:1.0:0.0:0.0	.	45	O15075-2	.	L	45	ENSP00000255448:R45L;ENSP00000353846:R45L;ENSP00000369222:R45L	ENSP00000255448:R45L	R	-	2	0	DCLK1	35598141	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.643000	0.83403	2.675000	0.91044	0.655000	0.94253	CGC		0.592	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		65	54	1	0	1.26778e-28	0.01441	1.69614e-28	65	54				
SPG20	23111	broad.mit.edu	37	13	36909952	36909952	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr13:36909952G>C	ENST00000451493.1	-	2	233	c.16C>G	c.(16-18)Caa>Gaa	p.Q6E	SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000494062.2_Missense_Mutation_p.Q6E|SPG20_ENST00000438666.2_Missense_Mutation_p.Q6E|SPG20_ENST00000355182.4_Missense_Mutation_p.Q6E	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	6					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)	p.Q6E(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TCTCCATTTTGTGGCTCTTGC	0.323																																							uc001uvn.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(16-18)CAA>GAA		spartin							77.0	80.0	79.0					13																	36909952		2202	4299	6501	SO:0001583	missense	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36909952G>C	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.16C>G	13.37:g.36909952G>C	ENSP00000414147:p.Gln6Glu					SPG20_uc010ten.1_Missense_Mutation_p.Q6E|SPG20_uc001uvm.2_Missense_Mutation_p.Q6E|SPG20_uc001uvo.2_Missense_Mutation_p.Q6E|SPG20_uc001uvq.2_Missense_Mutation_p.Q6E|SPG20_uc001uvp.2_Missense_Mutation_p.Q6E	p.Q6E	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	3	286	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	6					O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	ENST00000451493.1	37	c.16C>G	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	G	2.266	-0.368102	0.05069	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.87729	-2.29;-2.29;-2.29	5.24	2.29	0.28610	.	0.703467	0.13678	N	0.370386	T	0.66694	0.2815	N	0.03324	-0.35	0.23809	N	0.996788	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.52208	-0.8606	10	0.02654	T	1	-9.8716	10.0651	0.42299	0.0844:0.3982:0.5173:0.0	.	6;6;6	A8K6Q9;B3KMI3;Q8N0X7	.;.;SPG20_HUMAN	E	6	ENSP00000406061:Q6E;ENSP00000347314:Q6E;ENSP00000414147:Q6E	ENSP00000347314:Q6E	Q	-	1	0	SPG20	35807952	1.000000	0.71417	0.852000	0.33557	0.973000	0.67179	2.743000	0.47442	1.300000	0.44818	0.603000	0.83216	CAA		0.323	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2			51	58	0	0	0	0.01441	0	51	58				
TRPC4	7223	broad.mit.edu	37	13	38266459	38266459	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr13:38266459G>T	ENST00000379705.3	-	4	1768	c.911C>A	c.(910-912)cCc>cAc	p.P304H	TRPC4_ENST00000447043.1_Missense_Mutation_p.P304H|TRPC4_ENST00000355779.2_Missense_Mutation_p.P304H|TRPC4_ENST00000338947.5_Missense_Mutation_p.P131H|TRPC4_ENST00000379681.3_Missense_Mutation_p.P304H|TRPC4_ENST00000358477.2_Missense_Mutation_p.P304H|TRPC4_ENST00000426868.2_Missense_Mutation_p.P304H|TRPC4_ENST00000379673.2_Missense_Mutation_p.P304H|TRPC4_ENST00000379679.1_Missense_Mutation_p.P131H			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	304	Multimerization domain. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.P304H(4)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTGACAATTGGGCTGGGCAAC	0.438																																							uc001uws.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|skin(2)|breast(1)	6						c.(910-912)CCC>CAC		transient receptor potential cation channel,							54.0	44.0	47.0					13																	38266459		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38266459G>T	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.911C>A	13.37:g.38266459G>T	ENSP00000369027:p.Pro304His					TRPC4_uc010abv.2_Intron|TRPC4_uc001uwt.2_Missense_Mutation_p.P304H|TRPC4_uc010tey.1_Missense_Mutation_p.P304H|TRPC4_uc010abw.2_Missense_Mutation_p.P131H|TRPC4_uc010abx.2_Missense_Mutation_p.P304H|TRPC4_uc010aby.2_Missense_Mutation_p.P304H	p.P304H	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	4	1146	-			304			Cytoplasmic (Potential).|Multimerization domain (By similarity).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.911C>A	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395995	0.83011	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.91442	0.7299	M	0.93678	3.445	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.87578	0.987;0.992;0.998;0.996;0.976;0.982	D	0.93516	0.6857	10	0.87932	D	0	-16.9594	18.9249	0.92540	0.0:0.0:1.0:0.0	.	304;304;304;131;304;304	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	H	304;304;131;131;304;304;304;304;304	ENSP00000369027:P304H;ENSP00000369003:P304H;ENSP00000342580:P131H;ENSP00000369001:P131H;ENSP00000410133:P304H;ENSP00000348025:P304H;ENSP00000351264:P304H;ENSP00000368995:P304H;ENSP00000414316:P304H	ENSP00000342580:P131H	P	-	2	0	TRPC4	37164459	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.690000	0.98676	2.530000	0.85305	0.467000	0.42956	CCC		0.438	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		28	22	1	0	1.12875e-08	0.00632	1.27697e-08	28	22				
AKAP11	11215	broad.mit.edu	37	13	42876762	42876762	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr13:42876762G>C	ENST00000025301.2	+	8	4055	c.3880G>C	c.(3880-3882)Ggt>Cgt	p.G1294R		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1294					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TTATGCTGATGGTGACGAAGA	0.398																																							uc001uys.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(3880-3882)GGT>CGT		A-kinase anchor protein 11							72.0	73.0	72.0					13																	42876762		2203	4300	6503	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42876762G>C	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.3880G>C	13.37:g.42876762G>C	ENSP00000025301:p.Gly1294Arg						p.G1294R	NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	4055	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	1294					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.3880G>C	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	G	7.851	0.724059	0.15439	.	.	ENSG00000023516	ENST00000025301	T	0.51817	0.69	5.75	2.12	0.27331	.	0.422966	0.23418	N	0.048388	T	0.39036	0.1063	M	0.65975	2.015	0.09310	N	1	P	0.45474	0.859	B	0.40009	0.316	T	0.41716	-0.9493	10	0.59425	D	0.04	.	2.4135	0.04430	0.1974:0.229:0.4539:0.1197	.	1294	Q9UKA4	AKA11_HUMAN	R	1294	ENSP00000025301:G1294R	ENSP00000025301:G1294R	G	+	1	0	AKAP11	41774762	0.851000	0.29673	0.033000	0.17914	0.044000	0.14063	0.732000	0.26072	0.087000	0.17167	-0.150000	0.13652	GGT		0.398	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		7	80	0	0	0	0.00308	0	7	80				
EDNRB	1910	broad.mit.edu	37	13	78492316	78492316	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr13:78492316G>C	ENST00000334286.5	-	1	629	c.393C>G	c.(391-393)tgC>tgG	p.C131W	EDNRB_ENST00000446573.1_Missense_Mutation_p.C131W|EDNRB_ENST00000475537.1_5'Flank|EDNRB_ENST00000377211.4_Missense_Mutation_p.C221W|RNF219-AS1_ENST00000607862.1_RNA	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	131					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)	p.C131W(2)|p.C221W(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	CGTTTCGCATGCACTTGTTCT	0.483																																							uc001vko.2		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(391-393)TGC>TGG		endothelin receptor type B isoform 1 precursor	Bosentan(DB00559)						127.0	114.0	119.0					13																	78492316		2203	4300	6503	SO:0001583	missense	1910				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	g.chr13:78492316G>C	L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.393C>G	13.37:g.78492316G>C	ENSP00000335311:p.Cys131Trp					uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Missense_Mutation_p.C131W|EDNRB_uc010aez.1_Missense_Mutation_p.C131W|EDNRB_uc001vkp.1_Missense_Mutation_p.C214W|EDNRB_uc010afa.1_Missense_Mutation_p.C131W	p.C131W	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN		GBM - Glioblastoma multiforme(99;0.0933)	1	651	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	131			Cytoplasmic (Potential).		A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	ENST00000334286.5	37	c.393C>G	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912818	0.72983	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	T;T;T	0.71817	-0.6;-0.6;-0.6	5.05	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85440	0.5697	M	0.88310	2.945	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.91635	0.999;0.97;0.997	D	0.87804	0.2627	10	0.87932	D	0	-13.9427	12.8386	0.57788	0.0828:0.0:0.9172:0.0	.	131;221;131	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	W	221;131;131	ENSP00000366416:C221W;ENSP00000403401:C131W;ENSP00000335311:C131W	ENSP00000335311:C131W	C	-	3	2	EDNRB	77390317	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.565000	0.60836	1.198000	0.43158	0.655000	0.94253	TGC		0.483	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1			75	61	0	0	0	0.01441	0	75	61				
SLC10A2	6555	broad.mit.edu	37	13	103703714	103703714	+	Missense_Mutation	SNP	G	G	T	rs140050923		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr13:103703714G>T	ENST00000245312.3	-	4	1250	c.654C>A	c.(652-654)agC>agA	p.S218R		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	218					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)	p.S218R(2)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	TGATCCAGGCGCTTTGGTACA	0.478																																							uc001vpy.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(1)	4						c.(652-654)AGC>AGA		solute carrier family 10 (sodium/bile acid							80.0	81.0	81.0					13																	103703714		2203	4300	6503	SO:0001583	missense	6555				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr13:103703714G>T	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"""Solute carriers"""	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.654C>A	13.37:g.103703714G>T	ENSP00000245312:p.Ser218Arg						p.S218R	NM_000452	NP_000443	Q12908	NTCP2_HUMAN			4	1251	-	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		218			Cytoplasmic (Potential).		A1L4F4|Q13839	Missense_Mutation	SNP	ENST00000245312.3	37	c.654C>A	CCDS9506.1	.	.	.	.	.	.	.	.	.	.	G	9.421	1.083077	0.20309	.	.	ENSG00000125255	ENST00000245312	T	0.08634	3.07	5.46	-5.87	0.02297	.	0.382752	0.33477	N	0.004880	T	0.04770	0.0129	L	0.42245	1.32	0.32834	D	0.504395	B	0.17268	0.021	B	0.23852	0.049	T	0.30592	-0.9973	10	0.21014	T	0.42	-11.2207	3.2769	0.06902	0.2785:0.1043:0.4132:0.204	.	218	Q12908	NTCP2_HUMAN	R	218	ENSP00000245312:S218R	ENSP00000245312:S218R	S	-	3	2	SLC10A2	102501715	0.788000	0.28762	0.429000	0.26710	0.239000	0.25481	-0.011000	0.12721	-0.832000	0.04251	-0.384000	0.06662	AGC		0.478	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			61	63	1	0	7.55815e-43	0.01441	1.04878e-42	61	63				
OR4K2	390431	broad.mit.edu	37	14	20345048	20345048	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:20345048T>A	ENST00000298642.2	+	1	658	c.622T>A	c.(622-624)Ttg>Atg	p.L208M		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L208M(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATAATTGCGTTGTCCTGTTT	0.398																																							uc001vwh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(622-624)TTG>ATG		olfactory receptor, family 4, subfamily K,							306.0	307.0	307.0					14																	20345048		2203	4300	6503	SO:0001583	missense	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20345048T>A		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.622T>A	14.37:g.20345048T>A	ENSP00000298642:p.Leu208Met						p.L208M	NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	622	+	all_cancers(95;0.00108)		208			Helical; Name=5; (Potential).		B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	c.622T>A	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	2.672	-0.277249	0.05679	.	.	ENSG00000165762	ENST00000298642	T	0.43688	0.94	5.0	-0.334	0.12666	GPCR, rhodopsin-like superfamily (1);	0.185845	0.25613	N	0.029472	T	0.29817	0.0745	N	0.21324	0.655	0.09310	N	1	B	0.33748	0.423	B	0.42138	0.377	T	0.27262	-1.0079	10	0.27785	T	0.31	.	8.6512	0.34035	0.0:0.3725:0.0:0.6275	.	208	Q8NGD2	OR4K2_HUMAN	M	208	ENSP00000298642:L208M	ENSP00000298642:L208M	L	+	1	2	OR4K2	19414888	0.000000	0.05858	0.014000	0.15608	0.058000	0.15608	-2.389000	0.01058	0.036000	0.15547	0.383000	0.25322	TTG		0.398	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			115	514	0	0	0	0.01441	0	115	514				
TEP1	7011	broad.mit.edu	37	14	20859894	20859894	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:20859894C>G	ENST00000262715.5	-	13	2001	c.1961G>C	c.(1960-1962)aGg>aCg	p.R654T	TEP1_ENST00000556935.1_Missense_Mutation_p.R546T	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	654	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.R654T(2)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CTGTCGGTACCTGTTCAGCAT	0.542																																							uc001vxe.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)	5						c.(1960-1962)AGG>ACG		telomerase-associated protein 1							152.0	128.0	136.0					14																	20859894		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20859894C>G		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.1961G>C	14.37:g.20859894C>G	ENSP00000262715:p.Arg654Thr					TEP1_uc010ahk.2_Missense_Mutation_p.R4T|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.R546T	p.R654T	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	13	2001	-	all_cancers(95;0.00123)	all_lung(585;0.235)	654			TROVE.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.1961G>C	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.761553	0.49468	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.13901	2.55;2.55	5.01	2.23	0.28157	TROVE (2);	0.121213	0.56097	D	0.000038	T	0.29126	0.0724	M	0.63428	1.95	0.09310	N	0.999999	D;D;P	0.76494	0.979;0.999;0.954	P;D;P	0.80764	0.666;0.994;0.812	T	0.03473	-1.1033	10	0.72032	D	0.01	-12.0252	8.0551	0.30600	0.0:0.6757:0.0:0.3243	.	546;4;654	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	T	654;654;546	ENSP00000262715:R654T;ENSP00000452574:R546T	ENSP00000262715:R654T	R	-	2	0	TEP1	19929734	0.259000	0.24043	0.072000	0.20136	0.946000	0.59487	0.024000	0.13555	0.309000	0.22966	0.563000	0.77884	AGG		0.542	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		45	198	0	0	0	0.013114	0	45	198				
AJUBA	84962	broad.mit.edu	37	14	23445718	23445718	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:23445718A>T	ENST00000262713.2	-	4	1561	c.1186T>A	c.(1186-1188)Ttt>Att	p.F396I	AJUBA_ENST00000397388.3_5'UTR|AJUBA_ENST00000361265.4_Missense_Mutation_p.F396I|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	396	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.F396I(2)									GCCTCCTGAAACCCTGAAAAC	0.468																																						Esophageal Squamous(134;328 1721 9795 37986 41605)	uc001whz.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1186-1188)TTT>ATT		ajuba isoform 1							156.0	165.0	162.0					14																	23445718		2203	4300	6503	SO:0001583	missense	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23445718A>T	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1186T>A	14.37:g.23445718A>T	ENSP00000262713:p.Phe396Ile					JUB_uc001why.2_5'UTR	p.F396I	NM_032876	NP_116265	Q96IF1	JUB_HUMAN		GBM - Glioblastoma multiforme(265;0.0122)	4	1562	-	all_cancers(95;4.6e-05)		396			LIM zinc-binding 1.		A8MX18|D3DS37	Missense_Mutation	SNP	ENST00000262713.2	37	c.1186T>A	CCDS9581.1	.	.	.	.	.	.	.	.	.	.	A	33	5.218936	0.95104	.	.	ENSG00000129474	ENST00000262713;ENST00000361265	D;D	0.86769	-2.17;-2.17	5.67	5.67	0.87782	Zinc finger, LIM-type (1);	0.000000	0.64402	D	0.000001	D	0.89227	0.6655	M	0.79475	2.455	0.58432	D	0.999999	P	0.45715	0.865	P	0.46362	0.514	D	0.90065	0.4159	10	0.56958	D	0.05	.	13.868	0.63600	1.0:0.0:0.0:0.0	.	396	Q96IF1	JUB_HUMAN	I	396	ENSP00000262713:F396I;ENSP00000354491:F396I	ENSP00000262713:F396I	F	-	1	0	JUB	22515558	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.494000	0.90477	2.164000	0.68074	0.482000	0.46254	TTT		0.468	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			37	214	0	0	0	0.019004	0	37	214				
MYH6	4624	broad.mit.edu	37	14	23851669	23851669	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:23851669G>T	ENST00000356287.3	-	37	5793	c.5764C>A	c.(5764-5766)Ctt>Att	p.L1922I	MYH6_ENST00000405093.3_Missense_Mutation_p.L1922I			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1922					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.L1922I(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)		TTGGCTCGAAGCTTGTTGACC	0.592																																							uc001wjv.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(2)|ovary(1)|skin(1)	4						c.(5764-5766)CTT>ATT		myosin heavy chain 6							167.0	152.0	157.0					14																	23851669		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.chr14:23851669G>T	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.5764C>A	14.37:g.23851669G>T	ENSP00000348634:p.Leu1922Ile						p.L1922I	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	38	5831	-	all_cancers(95;2.54e-05)		1922			Potential.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.5764C>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760362	0.49468	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.81821	-1.54;-1.54	4.05	4.05	0.47172	Myosin tail (1);	.	.	.	.	T	0.78972	0.4368	M	0.71581	2.175	0.41436	D	0.987893	B	0.10296	0.003	B	0.24394	0.053	T	0.78838	-0.2046	9	0.72032	D	0.01	.	10.1271	0.42656	0.0942:0.0:0.9058:0.0	.	1922	P13533	MYH6_HUMAN	I	1922	ENSP00000386041:L1922I;ENSP00000348634:L1922I	ENSP00000348634:L1922I	L	-	1	0	MYH6	22921509	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	3.979000	0.56888	2.256000	0.74724	0.561000	0.74099	CTT		0.592	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			33	134	1	0	2.61193e-14	0.009535	3.165e-14	33	134				
MYH7	4625	broad.mit.edu	37	14	23884664	23884664	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:23884664G>C	ENST00000355349.3	-	36	5371	c.5209C>G	c.(5209-5211)Ctc>Gtc	p.L1737V	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1737					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|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)	p.L1737V(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCAGTCTGGAGCTGGGACAGG	0.562																																							uc001wjx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(5209-5211)CTC>GTC		myosin, heavy chain 7, cardiac muscle, beta							157.0	125.0	136.0					14																	23884664		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23884664G>C	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.5209C>G	14.37:g.23884664G>C	ENSP00000347507:p.Leu1737Val						p.L1737V	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	36	5315	-	all_cancers(95;2.54e-05)		1737			Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.5209C>G	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.390666	0.25118	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.79940	-1.32	5.41	4.53	0.55603	Myosin tail (1);	.	.	.	.	T	0.81004	0.4733	L	0.49256	1.55	0.49915	D	0.999833	P	0.39216	0.664	P	0.49922	0.626	T	0.77278	-0.2647	9	0.27082	T	0.32	.	10.4278	0.44389	0.0702:0.0:0.7958:0.134	.	1737	P12883	MYH7_HUMAN	V	1737;1742	ENSP00000347507:L1737V	ENSP00000347507:L1737V	L	-	1	0	MYH7	22954504	1.000000	0.71417	0.992000	0.48379	0.066000	0.16364	0.672000	0.25187	1.531000	0.49152	0.561000	0.74099	CTC		0.562	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		5	168	0	0	0	0.014758	0	5	168				
BAZ1A	11177	broad.mit.edu	37	14	35243536	35243536	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:35243536G>C	ENST00000382422.2	-	18	3321	c.2994C>G	c.(2992-2994)atC>atG	p.I998M	BAZ1A_ENST00000360310.1_Missense_Mutation_p.I998M|BAZ1A_ENST00000358716.4_Missense_Mutation_p.I966M			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	998					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TACAAACCTTGATGGCTCCTA	0.348																																							uc001wsk.2		NA																	0				lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7						c.(2992-2994)ATC>ATG		bromodomain adjacent to zinc finger domain, 1A							79.0	75.0	76.0					14																	35243536		2203	4300	6503	SO:0001583	missense	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35243536G>C	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.2994C>G	14.37:g.35243536G>C	ENSP00000371859:p.Ile998Met					BAZ1A_uc001wsl.2_Missense_Mutation_p.I966M	p.I998M	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	19	3562	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		998					Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	ENST00000382422.2	37	c.2994C>G	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124833	0.37533	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310;ENST00000543083	T;T;T	0.72051	-0.62;-0.62;-0.62	5.74	1.79	0.24919	.	0.416228	0.27147	N	0.020708	T	0.69324	0.3098	L	0.39245	1.2	0.45594	D	0.998538	D;D	0.62365	0.988;0.991	P;P	0.57720	0.826;0.646	T	0.65421	-0.6172	10	0.54805	T	0.06	.	6.5318	0.22332	0.2931:0.0:0.5727:0.1342	.	966;998	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	M	966;998;998;650	ENSP00000351555:I966M;ENSP00000371859:I998M;ENSP00000353458:I998M	ENSP00000351555:I966M	I	-	3	3	BAZ1A	34313287	1.000000	0.71417	0.998000	0.56505	0.701000	0.40568	0.796000	0.26986	0.057000	0.16193	-0.813000	0.03139	ATC		0.348	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			4	72	0	0	0	0.014758	0	4	72				
PRPF39	55015	broad.mit.edu	37	14	45571881	45571881	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:45571881A>G	ENST00000355765.6	+	5	889	c.719A>G	c.(718-720)tAt>tGt	p.Y240C		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	240					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.Y240C(2)|p.Y119C(2)		breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						ACACAGCTGTATAGTCATCAT	0.338																																							uc001wvz.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)|breast(1)	2						c.(718-720)TAT>TGT		PRP39 pre-mRNA processing factor 39 homolog							175.0	192.0	187.0					14																	45571881		2203	4300	6503	SO:0001583	missense	55015				mRNA processing|RNA splicing	nucleus	binding	g.chr14:45571881A>G	AK000673	CCDS9682.2	14q21.1	2013-10-03	2013-10-03		ENSG00000185246	ENSG00000185246			20314	protein-coding gene	gene with protein product		614907	"""PRP39 pre-mRNA processing factor 39 homolog (yeast)"", ""PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)"""				Standard	NM_017922		Approved	FLJ20666, FLJ11128	uc001wvz.4	Q86UA1	OTTHUMG00000140265	ENST00000355765.6:c.719A>G	14.37:g.45571881A>G	ENSP00000348010:p.Tyr240Cys					PRPF39_uc001wvy.3_Missense_Mutation_p.Y119C|PRPF39_uc010and.2_Missense_Mutation_p.Y30C	p.Y240C	NM_017922	NP_060392	Q86UA1	PRP39_HUMAN			5	889	+			240			HAT 4.		Q08AL1|Q08AL2|Q9NUU5	Missense_Mutation	SNP	ENST00000355765.6	37	c.719A>G	CCDS9682.2	.	.	.	.	.	.	.	.	.	.	A	21.3	4.133890	0.77662	.	.	ENSG00000185246	ENST00000355765;ENST00000355846	T	0.34667	1.35	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.64994	0.2649	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.70139	-0.4954	10	0.59425	D	0.04	-6.1647	15.7249	0.77747	1.0:0.0:0.0:0.0	.	240;119	Q86UA1;F5H1P0	PRP39_HUMAN;.	C	240;119	ENSP00000348010:Y240C	ENSP00000348010:Y240C	Y	+	2	0	PRPF39	44641631	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.339000	0.96797	2.202000	0.70862	0.528000	0.53228	TAT		0.338	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319683.2			87	200	0	0	0	0.01441	0	87	200				
FKBP3	2287	broad.mit.edu	37	14	45603642	45603642	+	Silent	SNP	T	T	A	rs536915344	byFrequency	TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:45603642T>A	ENST00000216330.3	-	2	428	c.18A>T	c.(16-18)ccA>ccT	p.P6P	FANCM_ENST00000267430.5_5'Flank|FKBP3_ENST00000396062.3_Silent_p.P6P|FANCM_ENST00000556036.1_5'Flank|FANCM_ENST00000542564.2_5'Flank			Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	6					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)	p.P6P(2)		NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						ACGCCCGCTGTGGAACGGCCG	0.667																																							uc010tqf.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(16-18)CCA>CCT		FK506 binding protein 3, 25kDa							34.0	34.0	34.0					14																	45603642		2198	4298	6496	SO:0001819	synonymous_variant	2287				protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity	g.chr14:45603642T>A	M96256	CCDS9683.1	14q21.2	2008-08-11	2002-08-29		ENSG00000100442	ENSG00000100442			3719	protein-coding gene	gene with protein product		186947	"""FK506-binding protein 3 (25kD)"""			1374240, 1532945	Standard	NM_002013		Approved	FKBP-25, PPIase	uc010tqf.2	Q00688	OTTHUMG00000140267	ENST00000216330.3:c.18A>T	14.37:g.45603642T>A						FANCM_uc001wwc.2_5'Flank|FANCM_uc001wwd.3_5'Flank|FANCM_uc010anf.2_5'Flank	p.P6P	NM_002013	NP_002004	Q00688	FKBP3_HUMAN			1	91	-			6					B2R4Q9|Q14317	Silent	SNP	ENST00000216330.3	37	c.18A>T	CCDS9683.1																																																																																				0.667	FKBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276796.1	NM_002013		17	26	0	0	0	0.010818	0	17	26				
OTX2	5015	broad.mit.edu	37	14	57268677	57268677	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:57268677C>T	ENST00000555006.1	-	4	1054	c.646G>A	c.(646-648)Ggg>Agg	p.G216R	OTX2_ENST00000339475.5_Missense_Mutation_p.G224R|OTX2_ENST00000554788.1_3'UTR|RP11-1085N6.6_ENST00000602485.1_lincRNA|OTX2_ENST00000408990.3_Missense_Mutation_p.G216R			P32243	OTX2_HUMAN	orthodenticle homeobox 2	216					axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|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.G224R(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					AGTGTGGCCCCTGGTCCGGGA	0.527																																							uc001xcp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(646-648)GGG>AGG		orthodenticle homeobox 2 isoform b							120.0	108.0	112.0					14																	57268677		2203	4300	6503	SO:0001583	missense	5015				axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr14:57268677C>T	AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"""Homeoboxes / PRD class"""	8522	protein-coding gene	gene with protein product		600037	"""orthodenticle homolog 2 (Drosophila)"""			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.646G>A	14.37:g.57268677C>T	ENSP00000452336:p.Gly216Arg					OTX2_uc010aou.2_Missense_Mutation_p.G216R|OTX2_uc001xcq.2_Missense_Mutation_p.G224R	p.G216R	NM_172337	NP_758840	P32243	OTX2_HUMAN			3	817	-	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)		216					B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Missense_Mutation	SNP	ENST00000555006.1	37	c.646G>A	CCDS41960.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463446	0.63513	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006;ENST00000554845	D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53	5.53	5.53	0.82687	Transcription factor Otx, C-terminal (1);	0.000000	0.47852	D	0.000219	D	0.94466	0.8219	M	0.80183	2.485	0.80722	D	1	D;D	0.63880	0.993;0.979	D;D	0.68765	0.96;0.917	D	0.93823	0.7120	10	0.49607	T	0.09	.	18.6325	0.91364	0.0:1.0:0.0:0.0	.	224;216	F1T0D1;P32243	.;OTX2_HUMAN	R	224;216;216;224	ENSP00000343819:G224R;ENSP00000386185:G216R;ENSP00000452336:G216R;ENSP00000451357:G224R	ENSP00000343819:G224R	G	-	1	0	OTX2	56338430	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.882000	0.98803	0.655000	0.94253	GGG		0.527	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411522.1	NM_021728.		26	113	0	0	0	0.005443	0	26	113				
SLC35F4	341880	broad.mit.edu	37	14	58031051	58031051	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:58031051G>T	ENST00000339762.6	-	8	1367	c.1368C>A	c.(1366-1368)cgC>cgA	p.R456R	SLC35F4_ENST00000554729.1_Silent_p.R297R|SLC35F4_ENST00000556826.1_Silent_p.R420R			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	456					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.R456R(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAGCAGCCAGGCGGACAACAT	0.448																																							uc001xdb.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(1366-1368)CGC>CGA		solute carrier family 35, member F4							68.0	68.0	68.0					14																	58031051		2001	4165	6166	SO:0001819	synonymous_variant	341880							g.chr14:58031051G>T			14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"""Solute carriers"""	19845	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 36"""	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.1368C>A	14.37:g.58031051G>T						SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_Silent_p.R297R	p.R456R	NM_001080455	NP_001073924					8	1368	-								A6NDQ3	Silent	SNP	ENST00000339762.6	37	c.1368C>A																																																																																					0.448	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding		XM_292260		3	20	1	0	8.12818e-05	0.001984	8.62313e-05	3	20				
PPP2R5E	5529	broad.mit.edu	37	14	63888812	63888812	+	Splice_Site	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:63888812C>G	ENST00000337537.3	-	4	957	c.355G>C	c.(355-357)Gta>Cta	p.V119L	PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Splice_Site_p.V119L|PPP2R5E_ENST00000422769.2_Splice_Site_p.V43L	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	119					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.V119L(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		TTGCAAGATACCTAAAAATAA	0.448																																							uc001xgd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(355-357)GTA>CTA		epsilon isoform of regulatory subunit B56,							119.0	103.0	108.0					14																	63888812		2203	4300	6503	SO:0001630	splice_region_variant	5529				signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:63888812C>G	L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9313	protein-coding gene	gene with protein product		601647	"""protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"""			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.355-1G>C	14.37:g.63888812C>G						PPP2R5E_uc010tsf.1_Missense_Mutation_p.V43L|PPP2R5E_uc010tsg.1_Missense_Mutation_p.V43L|PPP2R5E_uc001xge.2_Missense_Mutation_p.V119L|PPP2R5E_uc010tsh.1_Missense_Mutation_p.V119L|PPP2R5E_uc001xgf.1_RNA	p.V119L	NM_006246	NP_006237	Q16537	2A5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)	4	945	-			119					A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Missense_Mutation	SNP	ENST00000337537.3	37	c.355G>C	CCDS9758.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325787	0.60743	.	.	ENSG00000154001	ENST00000337537;ENST00000555899;ENST00000422769	.	.	.	5.41	5.41	0.78517	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59473	0.2196	L	0.48642	1.525	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.17979	0.013;0.02	T	0.56962	-0.7892	9	0.59425	D	0.04	-9.0717	17.9569	0.89072	0.0:1.0:0.0:0.0	.	119;119	B7ZKK9;Q16537	.;2A5E_HUMAN	L	119;119;43	.	ENSP00000337641:V119L	V	-	1	0	PPP2R5E	62958565	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.896000	0.63222	2.530000	0.85305	0.591000	0.81541	GTA		0.448	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276973.1	NM_006246	Missense_Mutation	7	82	0	0	0	0.001984	0	7	82				
SPTB	6710	broad.mit.edu	37	14	65246605	65246605	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:65246605C>G	ENST00000389721.5	-	20	4343	c.4311G>C	c.(4309-4311)gaG>gaC	p.E1437D	SPTB_ENST00000556626.1_Missense_Mutation_p.E1437D|SPTB_ENST00000542895.1_Missense_Mutation_p.E1437D|SPTB_ENST00000389720.3_Missense_Mutation_p.E1437D|SPTB_ENST00000389722.3_Missense_Mutation_p.E1437D	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1437					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.E1437D(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GGGCAAACAGCTCCCCCAGCT	0.597																																							uc001xht.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(4309-4311)GAG>GAC		spectrin beta isoform b							132.0	127.0	129.0					14																	65246605		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65246605C>G		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.4311G>C	14.37:g.65246605C>G	ENSP00000374371:p.Glu1437Asp					SPTB_uc001xhr.2_Missense_Mutation_p.E1437D|SPTB_uc001xhs.2_Missense_Mutation_p.E1437D|SPTB_uc001xhu.2_Missense_Mutation_p.E1437D|SPTB_uc010aqi.2_Missense_Mutation_p.E98D	p.E1437D	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	20	4365	-		all_lung(585;4.15e-09)	1437			Spectrin 11.		Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.4311G>C	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.900357	0.52227	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	5.42	3.56	0.40772	.	0.000000	0.85682	D	0.000000	T	0.40886	0.1135	L	0.55017	1.72	0.44439	D	0.997365	B;B;B	0.22146	0.065;0.01;0.019	B;B;B	0.28916	0.096;0.049;0.049	T	0.37798	-0.9690	10	0.51188	T	0.08	.	5.572	0.17202	0.1615:0.6627:0.0:0.1758	.	221;1437;1441	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	D	1441;1437;221;102;1437;1437;1437;1437	ENSP00000374372:E1437D;ENSP00000451324:E102D;ENSP00000451752:E1437D;ENSP00000374371:E1437D;ENSP00000443882:E1437D;ENSP00000374370:E1437D	ENSP00000334218:E221D	E	-	3	2	SPTB	64316358	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.234000	0.32660	1.259000	0.44117	0.561000	0.74099	GAG		0.597	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			54	280	0	0	0	0.01441	0	54	280				
MAP3K9	4293	broad.mit.edu	37	14	71197442	71197442	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:71197442C>A	ENST00000554752.2	-	12	2969	c.2970G>T	c.(2968-2970)gaG>gaT	p.E990D	MAP3K9_ENST00000554146.1_Missense_Mutation_p.E718D|MAP3K9_ENST00000555993.2_Missense_Mutation_p.E1004D|MAP3K9_ENST00000381250.4_Missense_Mutation_p.E967D|MAP3K9_ENST00000553414.1_Missense_Mutation_p.E723D	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	990					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.E1004D(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GAGGCAGAAACTCCAGAGTCT	0.627																																					GBM(114;411 1587 13539 28235 50070)	GBM(114;411 1587 13539 28235 50070)	uc001xmm.2		NA																	2	Substitution - Missense(2)		lung(2)	stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(2968-2970)GAG>GAT		mitogen-activated protein kinase kinase kinase							46.0	48.0	48.0					14																	71197442		2203	4300	6503	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71197442C>A	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.2970G>T	14.37:g.71197442C>A	ENSP00000451612:p.Glu990Asp					MAP3K9_uc010ttk.1_Missense_Mutation_p.E718D|MAP3K9_uc001xmk.2_Missense_Mutation_p.E723D|MAP3K9_uc001xml.2_Missense_Mutation_p.E1004D	p.E990D	NM_033141	NP_149132	P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	12	2970	-			990					A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.2970G>T		.	.	.	.	.	.	.	.	.	.	C	10.52	1.374492	0.24857	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	T;T;T;T	0.74632	-0.83;-0.85;-0.86;-0.81	4.84	2.94	0.34122	.	0.152341	0.64402	N	0.000016	T	0.59032	0.2164	L	0.32530	0.975	0.29822	N	0.830777	B;B;B;B	0.18741	0.03;0.007;0.003;0.001	B;B;B;B	0.20577	0.03;0.005;0.009;0.005	T	0.52298	-0.8594	10	0.30854	T	0.27	.	6.8485	0.24003	0.0:0.6851:0.1592:0.1556	.	718;990;1004;723	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	D	990;1004;723;967;718;706	ENSP00000451612:E990D;ENSP00000451038:E723D;ENSP00000370649:E967D;ENSP00000451921:E718D	ENSP00000005198:E1004D	E	-	3	2	MAP3K9	70267195	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	1.407000	0.34657	1.239000	0.43787	0.655000	0.94253	GAG		0.627	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			44	78	1	0	1.0331e-37	0.01441	1.42096e-37	44	78				
NUMB	8650	broad.mit.edu	37	14	73743882	73743882	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:73743882G>A	ENST00000355058.3	-	13	1638	c.1360C>T	c.(1360-1362)Cag>Tag	p.Q454*	NUMB_ENST00000555238.1_Nonsense_Mutation_p.Q454*|NUMB_ENST00000359560.3_Nonsense_Mutation_p.Q443*|NUMB_ENST00000454166.4_Nonsense_Mutation_p.Q308*|NUMB_ENST00000559312.1_Nonsense_Mutation_p.Q259*|NUMB_ENST00000556772.1_Nonsense_Mutation_p.Q310*|NUMB_ENST00000535282.1_Nonsense_Mutation_p.Q443*|NUMB_ENST00000555738.2_Nonsense_Mutation_p.Q297*|NUMB_ENST00000555394.1_Nonsense_Mutation_p.Q406*|NUMB_ENST00000554546.1_Nonsense_Mutation_p.Q395*|NUMB_ENST00000560335.1_Nonsense_Mutation_p.Q308*|NUMB_ENST00000356296.4_Nonsense_Mutation_p.Q406*|NUMB_ENST00000554521.2_Nonsense_Mutation_p.Q248*|NUMB_ENST00000544991.3_Nonsense_Mutation_p.Q259*|NUMB_ENST00000557597.1_Nonsense_Mutation_p.Q443*			P49757	NUMB_HUMAN	numb homolog (Drosophila)	454					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.Q454*(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		TGGGGCTGCTGAGCCCGGACG	0.602																																							uc001xny.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1360-1362)CAG>TAG		numb homolog isoform 1							44.0	42.0	43.0					14																	73743882		2203	4300	6503	SO:0001587	stop_gained	8650				axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane		g.chr14:73743882G>A	L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"""numb (Drosophila) homolog"", ""chromosome 14 open reading frame 41"""	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.1360C>T	14.37:g.73743882G>A	ENSP00000347169:p.Gln454*					NUMB_uc010aro.1_Nonsense_Mutation_p.Q259*|NUMB_uc010arp.1_Nonsense_Mutation_p.Q248*|NUMB_uc010arq.1_Nonsense_Mutation_p.Q308*|NUMB_uc010arr.1_Nonsense_Mutation_p.Q297*|NUMB_uc001xoa.1_Nonsense_Mutation_p.Q406*|NUMB_uc001xnz.1_Nonsense_Mutation_p.Q443*|NUMB_uc001xob.1_Nonsense_Mutation_p.Q395*|NUMB_uc001xod.1_Nonsense_Mutation_p.Q406*|NUMB_uc001xoc.1_Nonsense_Mutation_p.Q454*|NUMB_uc010ars.1_Nonsense_Mutation_p.Q443*|NUMB_uc010ttz.1_Nonsense_Mutation_p.Q152*|NUMB_uc001xoe.2_RNA	p.Q454*	NM_001005743	NP_001005743	P49757	NUMB_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)	13	1680	-			454					B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Nonsense_Mutation	SNP	ENST00000355058.3	37	c.1360C>T	CCDS32116.1	.	.	.	.	.	.	.	.	.	.	G	36	5.625020	0.96660	.	.	ENSG00000133961	ENST00000554546;ENST00000356296;ENST00000557597;ENST00000555238;ENST00000556772;ENST00000355058;ENST00000359560;ENST00000555394;ENST00000544991;ENST00000454166;ENST00000555738;ENST00000554521;ENST00000535282	.	.	.	5.65	5.65	0.86999	.	0.178306	0.51477	D	0.000094	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-7.7672	14.7174	0.69280	0.0:0.0:0.8554:0.1446	.	.	.	.	X	395;406;443;454;310;454;443;406;259;308;297;248;443	.	ENSP00000347169:Q454X	Q	-	1	0	NUMB	72813635	1.000000	0.71417	0.998000	0.56505	0.833000	0.47200	7.400000	0.79949	2.941000	0.99782	0.655000	0.94253	CAG		0.602	NUMB-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414416.1			16	53	0	0	0	0.003163	0	16	53				
HEATR4	399671	broad.mit.edu	37	14	73959323	73959323	+	Intron	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:73959323A>T	ENST00000553558.1	-	17	3166				HEATR4_ENST00000334988.2_Intron|C14orf169_ENST00000531973.1_RNA|HEATR4_ENST00000560393.1_Intron	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		AGGCTGGAGAACCTGTAAACG	0.527																																							uc001xok.1		NA																	0					0						c.(1600-1602)GAA>GAT		chromosome 14 open reading frame 169							39.0	43.0	42.0					14																	73959323		1882	4111	5993	SO:0001627	intron_variant	79697				negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K4 specific)|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr14:73959323A>T	BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2844+446T>A	14.37:g.73959323A>T						HEATR4_uc010tua.1_Intron	p.E534D	NM_024644	NP_078920	Q9H6W3	NO66_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.215)	3	1681	+			534					B7Z7V9|E9KL41	Missense_Mutation	SNP	ENST00000553558.1	37	c.1602A>T	CCDS9815.2																																																																																				0.527	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	NM_203309		14	62	0	0	0	0.020292	0	14	62				
LTBP2	4053	broad.mit.edu	37	14	74975375	74975375	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:74975375C>T	ENST00000261978.4	-	24	3970	c.3584G>A	c.(3583-3585)aGc>aAc	p.S1195N	LTBP2_ENST00000556690.1_Missense_Mutation_p.S1195N	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1195	Cys-rich.|EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.S1195N(3)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGACCCGTGGCTGTTGAGGCA	0.632																																							uc001xqa.2		NA																	3	Substitution - Missense(3)		lung(3)	liver(1)|skin(1)	2						c.(3583-3585)AGC>AAC		latent transforming growth factor beta binding							49.0	60.0	56.0					14																	74975375		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74975375C>T		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.3584G>A	14.37:g.74975375C>T	ENSP00000261978:p.Ser1195Asn						p.S1195N	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	24	3971	-			1195			Cys-rich.|EGF-like 12; calcium-binding (Potential).		Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.3584G>A	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.737068	0.49045	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.91843	-2.92;-2.92	5.2	3.25	0.37280	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.139234	0.33272	N	0.005092	D	0.90830	0.7120	N	0.20483	0.58	0.30355	N	0.784351	D	0.56746	0.977	P	0.61722	0.893	D	0.87702	0.2561	10	0.27785	T	0.31	.	15.1905	0.73041	0.0:0.7164:0.2836:0.0	.	1195	Q14767	LTBP2_HUMAN	N	1195	ENSP00000261978:S1195N;ENSP00000451477:S1195N	ENSP00000261978:S1195N	S	-	2	0	LTBP2	74045128	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	3.171000	0.50824	1.374000	0.46228	0.462000	0.41574	AGC		0.632	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		19	62	0	0	0	0.014323	0	19	62				
NRXN3	9369	broad.mit.edu	37	14	79434538	79434538	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:79434538G>T	ENST00000554719.1	+	11	2363	c.1872G>T	c.(1870-1872)ctG>ctT	p.L624L	NRXN3_ENST00000335750.5_Silent_p.L624L	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	228					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.L624L(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGGCTGGTCTGGCCCAAGGCA	0.488																																							uc001xun.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(1870-1872)CTG>CTT		neurexin 3 isoform 1 precursor							104.0	95.0	98.0					14																	79434538		2203	4300	6503	SO:0001819	synonymous_variant	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:79434538G>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1872G>T	14.37:g.79434538G>T						NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Silent_p.L749L	p.L624L	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	11	2363	+		Renal(4;0.00876)	997			Extracellular (Potential).|Laminin G-like 5.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	ENST00000554719.1	37	c.1872G>T	CCDS9870.1																																																																																				0.488	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		42	62	1	0	4.0306e-16	0.01441	4.96854e-16	42	62				
NRXN3	9369	broad.mit.edu	37	14	80328143	80328143	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:80328143T>C	ENST00000557594.1	+	6	2703	c.1750T>C	c.(1750-1752)Tac>Cac	p.Y584H	NRXN3_ENST00000281127.7_Missense_Mutation_p.Y379H|NRXN3_ENST00000428277.2_Missense_Mutation_p.Y406H|NRXN3_ENST00000335750.5_Missense_Mutation_p.Y1008H|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000554719.1_Missense_Mutation_p.Y1008H	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	584					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.Y1008H(2)|p.Y406H(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GTACGCCATGTACAAGTACAG	0.587																																							uc001xun.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(3022-3024)TAC>CAC		neurexin 3 isoform 1 precursor							77.0	68.0	71.0					14																	80328143		2203	4300	6503	SO:0001583	missense	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:80328143T>C	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.1750T>C	14.37:g.80328143T>C	ENSP00000451672:p.Tyr584His					NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Missense_Mutation_p.Y584H|NRXN3_uc010asw.2_Missense_Mutation_p.Y406H|NRXN3_uc001xur.3_Missense_Mutation_p.Y379H	p.Y1008H	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	17	3513	+		Renal(4;0.00876)	1590			Cytoplasmic (Potential).		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37	c.3022T>C		.	.	.	.	.	.	.	.	.	.	T	15.37	2.813809	0.50527	.	.	ENSG00000021645	ENST00000330071;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.78595	-1.19;-1.19;0.26;0.94;0.7	6.16	6.16	0.99307	Neurexin/syndecan/glycophorin C (1);	0.000000	0.85682	D	0.000000	D	0.88284	0.6395	M	0.79123	2.44	0.40751	D	0.982914	D;D;D;D	0.89917	1.0;0.996;0.997;1.0	D;D;D;D	0.91635	0.997;0.944;0.995;0.999	D	0.88774	0.3266	9	.	.	.	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	406;379;584;1008	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	H	1590;1008;1008;584;379;406	ENSP00000451648:Y1008H;ENSP00000338349:Y1008H;ENSP00000451672:Y584H;ENSP00000281127:Y379H;ENSP00000394426:Y406H	.	Y	+	1	0	NRXN3	79397896	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	TAC		0.587	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		18	57	0	0	0	0.00499	0	18	57				
PTPN21	11099	broad.mit.edu	37	14	89016693	89016693	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:89016693C>A	ENST00000556564.1	-	2	353	c.69G>T	c.(67-69)ctG>ctT	p.L23L	RP11-507K2.3_ENST00000556328.1_RNA|PTPN21_ENST00000328736.3_Silent_p.L23L|PTPN21_ENST00000554628.1_5'UTR	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	23	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)	p.L23L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCCGGGCAACCAGGCAACTCT	0.557																																							uc001xwv.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(67-69)CTG>CTT		protein tyrosine phosphatase, non-receptor type							114.0	109.0	111.0					14																	89016693		2203	4300	6503	SO:0001819	synonymous_variant	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:89016693C>A	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.69G>T	14.37:g.89016693C>A						PTPN21_uc010twc.1_5'UTR|PTPN21_uc010atf.1_Silent_p.L23L	p.L23L	NM_007039	NP_008970	Q16825	PTN21_HUMAN			2	400	-			23			FERM.			Silent	SNP	ENST00000556564.1	37	c.69G>T	CCDS9884.1																																																																																				0.557	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			46	138	1	0	5.2432e-18	0.01441	6.61944e-18	46	138				
CLMN	79789	broad.mit.edu	37	14	95677189	95677189	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:95677189C>G	ENST00000298912.4	-	7	749	c.636G>C	c.(634-636)gcG>gcC	p.A212A		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	212	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.A212A(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TCCAACTGCCCGCAAAGTCCT	0.562																																							uc001yef.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(634-636)GCG>GCC		calmin							99.0	103.0	102.0					14																	95677189		2203	4300	6503	SO:0001819	synonymous_variant	79789					integral to membrane	actin binding	g.chr14:95677189C>G	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.636G>C	14.37:g.95677189C>G							p.A212A	NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	7	752	-			212			Actin-binding.|CH 2.		B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Silent	SNP	ENST00000298912.4	37	c.636G>C	CCDS9933.1																																																																																				0.562	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			19	193	0	0	0	0.008361	0	19	193				
ATG2B	55102	broad.mit.edu	37	14	96777950	96777950	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:96777950C>A	ENST00000359933.4	-	27	4812	c.3919G>T	c.(3919-3921)Gtt>Ttt	p.V1307F	ATG2B_ENST00000261834.5_5'Flank	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1307					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.V1307F(2)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ATCACACGAACATAATCTAAA	0.313																																							uc001yfi.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.(3919-3921)GTT>TTT		ATG2 autophagy related 2 homolog B							41.0	43.0	42.0					14																	96777950		2203	4297	6500	SO:0001583	missense	55102							g.chr14:96777950C>A	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.3919G>T	14.37:g.96777950C>A	ENSP00000353010:p.Val1307Phe						p.V1307F	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	27	4284	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1307					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.3919G>T	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	C	27.7	4.855210	0.91355	.	.	ENSG00000066739	ENST00000359933	T	0.23552	1.9	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.47637	0.1456	M	0.76838	2.35	0.80722	D	1	P	0.44260	0.83	P	0.51229	0.663	T	0.48658	-0.9016	10	0.87932	D	0	.	19.7664	0.96346	0.0:1.0:0.0:0.0	.	1307	Q96BY7	ATG2B_HUMAN	F	1307	ENSP00000353010:V1307F	ENSP00000353010:V1307F	V	-	1	0	ATG2B	95847703	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.171000	0.58236	2.671000	0.90904	0.557000	0.71058	GTT		0.313	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		20	71	1	0	1.28384e-07	0.012319	1.42973e-07	20	71				
CDC42BPB	9578	broad.mit.edu	37	14	103412024	103412024	+	Silent	SNP	G	G	C	rs141924737		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:103412024G>C	ENST00000361246.2	-	29	4074	c.3786C>G	c.(3784-3786)ctC>ctG	p.L1262L		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)									p.L1262L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CTATGACATAGAGCCCTTCTT	0.542																																							uc001ymi.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11						c.(3784-3786)CTC>CTG		CDC42-binding protein kinase beta							133.0	104.0	114.0					14																	103412024		2201	4300	6501	SO:0001819	synonymous_variant	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103412024G>C	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.3786C>G	14.37:g.103412024G>C						CDC42BPB_uc001ymj.1_Silent_p.L364L	p.L1262L	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	29	4018	-		Melanoma(154;0.155)	1262			CNH.			Silent	SNP	ENST00000361246.2	37	c.3786C>G	CCDS9978.1																																																																																				0.542	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		12	67	0	0	0	0.013537	0	12	67				
PPP1R13B	23368	broad.mit.edu	37	14	104251168	104251168	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:104251168G>A	ENST00000202556.9	-	3	523	c.241C>T	c.(241-243)Cga>Tga	p.R81*		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	81					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R81*(2)		endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TCCTCGTGTCGAAGGAAAAAT	0.393																																							uc001yof.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(241-243)CGA>TGA		apoptosis-stimulating protein of p53, 1							84.0	80.0	81.0					14																	104251168		1840	4087	5927	SO:0001587	stop_gained	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104251168G>A	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.241C>T	14.37:g.104251168G>A	ENSP00000202556:p.Arg81*					PPP1R13B_uc001yog.1_5'UTR	p.R81*	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN			3	524	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	81					B2RMX5|O94870	Nonsense_Mutation	SNP	ENST00000202556.9	37	c.241C>T	CCDS41997.1	.	.	.	.	.	.	.	.	.	.	G	37	6.059405	0.97246	.	.	ENSG00000088808	ENST00000202556;ENST00000555734;ENST00000553739	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5333	0.95239	0.0:0.0:1.0:0.0	.	.	.	.	X	81;78;110	.	ENSP00000202556:R81X	R	-	1	2	PPP1R13B	103320921	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.130000	0.77235	2.720000	0.93068	0.563000	0.77884	CGA		0.393	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		23	82	0	0	0	0.014323	0	23	82				
IGHV3-65	28413	broad.mit.edu	37	14	107122205	107122205	+	IGR	SNP	C	C	G	rs113057405	byFrequency	TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr14:107122205C>G								IGHV3-64 (7931 upstream) : IGHV3-66 (8827 downstream)																							TTCACAGACGCGGCGTATTCT	0.488																																							uc010tyt.1		NA																	0					0						c.e75+1		Parts of antibodies, mostly variable regions.																																				SO:0001628	intergenic_variant	8755							g.chr14:107122205C>G																													14.37:g.107122205C>G														75		-									Splice_Site	SNP		37	c.3728_splice																																																																																				0	0.488									31	51	0	0	0	0.007291	0	31	51				
CYFIP1	23191	broad.mit.edu	37	15	23000107	23000107	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:23000107G>C	ENST00000313077.7	+	30	3586	c.3461G>C	c.(3460-3462)gGt>gCt	p.G1154A	CYFIP1_ENST00000560848.1_Missense_Mutation_p.G1154A|CYFIP1_ENST00000435939.2_Missense_Mutation_p.G723A	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1									p.G1154A(2)|p.G723A(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CAGTGCTTTGGTGATGGGCTA	0.483																																							uc001yus.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(4)|pancreas(3)|liver(1)|skin(1)	9						c.(3460-3462)GGT>GCT		cytoplasmic FMR1 interacting protein 1 isoform							169.0	154.0	159.0					15																	23000107		2203	4300	6503	SO:0001583	missense	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:23000107G>C	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.3461G>C	15.37:g.23000107G>C	ENSP00000324549:p.Gly1154Ala					CYFIP1_uc001yut.2_Missense_Mutation_p.G1154A|CYFIP1_uc001yuu.2_Missense_Mutation_p.G723A|CYFIP1_uc001yuv.2_Missense_Mutation_p.G348A	p.G1154A	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	30	3565	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	1154						Missense_Mutation	SNP	ENST00000313077.7	37	c.3461G>C	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654340	0.67472	.	.	ENSG00000068793	ENST00000313077;ENST00000412127;ENST00000435939	T;T	0.39056	1.1;1.1	4.99	4.99	0.66335	.	0.000000	0.64402	D	0.000007	T	0.71846	0.3388	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.78314	0.991;0.983	T	0.79427	-0.1808	10	0.87932	D	0	-18.9949	18.2666	0.90054	0.0:0.0:1.0:0.0	.	723;1154	Q7L576-2;Q7L576	.;CYFP1_HUMAN	A	1154;1156;723	ENSP00000324549:G1154A;ENSP00000405956:G723A	ENSP00000324549:G1154A	G	+	2	0	CYFIP1	20551548	1.000000	0.71417	0.845000	0.33349	0.073000	0.16967	9.807000	0.99171	2.328000	0.79073	0.313000	0.20887	GGT		0.483	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		21	78	0	0	0	0.01892	0	21	78				
MAGEL2	54551	broad.mit.edu	37	15	23889431	23889431	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:23889431A>T	ENST00000532292.1	-	1	1744	c.1650T>A	c.(1648-1650)acT>acA	p.T550T		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	433					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TGAGCTTCTTAGTATTTCCAA	0.473																																							uc001ywj.3		NA																	0					0						c.(1648-1650)ACT>ACA		MAGE-like protein 2							44.0	45.0	45.0					15																	23889431		1893	4115	6008	SO:0001819	synonymous_variant	54551							g.chr15:23889431A>T	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1650T>A	15.37:g.23889431A>T							p.T550T	NM_019066	NP_061939				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	1745	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Silent	SNP	ENST00000532292.1	37	c.1650T>A		.	.	.	.	.	.	.	.	.	.	A	0.012	-1.655846	0.00779	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.57	-9.13	0.00704	.	.	.	.	.	T	0.16342	0.0393	.	.	.	0.20975	N	0.999813	.	.	.	.	.	.	T	0.09574	-1.0668	4	.	.	.	.	3.3696	0.07216	0.1683:0.457:0.2482:0.1265	.	.	.	.	Q	582	.	.	L	-	2	0	MAGEL2	21440524	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.862000	0.01653	-3.195000	0.00218	-1.580000	0.00857	CTA		0.473	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		4	65	0	0	0	0.009096	0	4	65				
NPAP1	23742	broad.mit.edu	37	15	24921525	24921525	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:24921525G>C	ENST00000329468.2	+	1	985	c.511G>C	c.(511-513)Ggg>Cgg	p.G171R		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	171					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.G171R(2)									GCAGATCGAAGGGGAGGATGA	0.612																																							uc001ywo.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(511-513)GGG>CGG		hypothetical protein LOC23742							47.0	40.0	42.0					15																	24921525		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921525G>C	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.511G>C	15.37:g.24921525G>C	ENSP00000333735:p.Gly171Arg						p.G171R	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	985	+		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)	171						Missense_Mutation	SNP	ENST00000329468.2	37	c.511G>C	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	12.39	1.924166	0.34002	.	.	ENSG00000185823	ENST00000329468	T	0.12672	2.66	2.85	1.87	0.25490	.	0.804257	0.10169	N	0.707379	T	0.12220	0.0297	L	0.34521	1.04	0.09310	N	1	P	0.37370	0.592	B	0.39935	0.314	T	0.27502	-1.0072	10	0.45353	T	0.12	.	8.0243	0.30427	0.0:0.2554:0.7446:0.0	.	171	Q9NZP6	CO002_HUMAN	R	171	ENSP00000333735:G171R	ENSP00000333735:G171R	G	+	1	0	C15orf2	22472618	0.008000	0.16893	0.001000	0.08648	0.001000	0.01503	0.797000	0.26999	0.452000	0.26830	-0.687000	0.03738	GGG		0.612	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		17	87	0	0	0	0.007413	0	17	87				
GABRB3	2562	broad.mit.edu	37	15	26806314	26806314	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:26806314G>T	ENST00000311550.5	-	8	956	c.845C>A	c.(844-846)aCt>aAt	p.T282N	GABRB3_ENST00000400188.3_Missense_Mutation_p.T211N|GABRB3_ENST00000545868.1_Missense_Mutation_p.T197N|GABRB3_ENST00000299267.4_Missense_Mutation_p.T282N|GABRB3_ENST00000541819.2_Missense_Mutation_p.T338N	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	282					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.T282N(4)|p.T338N(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	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)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGTCAGCACAGTTGTGATCCC	0.438																																							uc001zaz.2		NA																	6	Substitution - Missense(6)		lung(6)	upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(844-846)ACT>AAT		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						160.0	149.0	153.0					15																	26806314		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26806314G>T		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.845C>A	15.37:g.26806314G>T	ENSP00000308725:p.Thr282Asn					GABRB3_uc010uae.1_Missense_Mutation_p.T197N|GABRB3_uc001zba.2_Missense_Mutation_p.T282N|GABRB3_uc001zbb.2_Missense_Mutation_p.T338N	p.T282N	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	8	987	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	282			Helical; (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.845C>A	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505326	0.85282	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33	4.9	4.9	0.64082	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.95395	0.8505	H	0.94658	3.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.96797	0.9586	10	0.87932	D	0	.	17.0894	0.86618	0.0:0.0:1.0:0.0	.	338;282;282	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	N	282;338;282;211;197	ENSP00000308725:T282N;ENSP00000442408:T338N;ENSP00000299267:T282N;ENSP00000383049:T211N;ENSP00000439169:T197N	ENSP00000299267:T282N	T	-	2	0	GABRB3	24357407	1.000000	0.71417	0.944000	0.38274	0.806000	0.45545	9.724000	0.98775	2.261000	0.74972	0.591000	0.81541	ACT		0.438	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			32	104	1	0	1.99505e-19	0.012213	2.55994e-19	32	104				
OCA2	4948	broad.mit.edu	37	15	28116363	28116363	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:28116363C>G	ENST00000354638.3	-	21	2336	c.2181G>C	c.(2179-2181)ctG>ctC	p.L727L	OCA2_ENST00000353809.5_Silent_p.L703L	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	727					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CCCACACCACCAGGACAATGG	0.562									Oculocutaneous Albinism																														uc001zbh.3		NA																	0				ovary(3)|breast(1)|pancreas(1)	5	GRCh37	CD952150	OCA2	D		c.(2179-2181)CTG>CTC		oculocutaneous albinism II							139.0	112.0	121.0					15																	28116363		2203	4300	6503	SO:0001819	synonymous_variant	4948	Oculocutaneous_Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28116363C>G		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.2181G>C	15.37:g.28116363C>G						OCA2_uc010ayv.2_Silent_p.L703L	p.L727L	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	21	2291	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	727			Helical; (Potential).		Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	ENST00000354638.3	37	c.2181G>C	CCDS10020.1																																																																																				0.562	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		5	91	0	0	0	0.001984	0	5	91				
OTUD7A	161725	broad.mit.edu	37	15	31862303	31862303	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:31862303A>G	ENST00000307050.4	-	2	341	c.249T>C	c.(247-249)ggT>ggC	p.G83G	OTUD7A_ENST00000382902.1_Silent_p.G83G	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	83					protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.G83G(2)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GCTGCTTGGGACCCCGCCCTT	0.622																																							uc001zfq.2		NA																	2	Substitution - coding silent(2)		lung(2)	pancreas(1)|skin(1)	2						c.(247-249)GGT>GGC		OTU domain containing 7A							67.0	62.0	64.0					15																	31862303		2201	4300	6501	SO:0001819	synonymous_variant	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31862303A>G	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.249T>C	15.37:g.31862303A>G						OTUD7A_uc001zfr.2_Silent_p.G83G|OTUD7A_uc001zfs.1_RNA|OTUD7A_uc010baa.1_Silent_p.G83G	p.G83G	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	2	342	-		all_lung(180;1.6e-09)	83					Q8IWK5	Silent	SNP	ENST00000307050.4	37	c.249T>C	CCDS10026.1																																																																																				0.622	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		12	94	0	0	0	0.00499	0	12	94				
ARHGAP11A	9824	broad.mit.edu	37	15	32928496	32928496	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:32928496A>G	ENST00000361627.3	+	12	2244	c.1522A>G	c.(1522-1524)Act>Gct	p.T508A	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.T319A|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.T319A	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	508					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.T508A(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		AACCTTACTAACTCCAGAGCG	0.358																																					Colon(45;757 1134 30003 36652)	Colon(45;757 1134 30003 36652)	uc001zgy.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|breast(2)|urinary_tract(1)	6						c.(1522-1524)ACT>GCT		Rho GTPase activating protein 11A isoform 1							55.0	58.0	57.0					15																	32928496		2201	4300	6501	SO:0001583	missense	9824				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:32928496A>G	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.1522A>G	15.37:g.32928496A>G	ENSP00000355090:p.Thr508Ala					ARHGAP11A_uc010ubw.1_Missense_Mutation_p.T319A|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.T319A	p.T508A	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	12	2244	+		all_lung(180;1.3e-11)	508					B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	37	c.1522A>G	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	.	19.54	3.846880	0.71603	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T	0.13538	2.58	5.86	4.74	0.60224	.	0.095257	0.46145	D	0.000307	T	0.22282	0.0537	M	0.62723	1.935	0.47737	D	0.999504	P	0.52463	0.953	P	0.49387	0.609	T	0.00883	-1.1528	10	0.87932	D	0	.	11.3555	0.49613	0.9295:0.0:0.0705:0.0	.	508	Q6P4F7	RHGBA_HUMAN	A	508;319	ENSP00000355090:T508A	ENSP00000355090:T508A	T	+	1	0	ARHGAP11A	30715788	1.000000	0.71417	0.990000	0.47175	0.822000	0.46500	4.272000	0.58908	2.226000	0.72624	0.528000	0.53228	ACT		0.358	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		16	86	0	0	0	0.006122	0	16	86				
RYR3	6263	broad.mit.edu	37	15	33955875	33955875	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:33955875G>A	ENST00000389232.4	+	36	5626	c.5556G>A	c.(5554-5556)ctG>ctA	p.L1852L	RYR3_ENST00000415757.3_Silent_p.L1852L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1852	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.L1852L(2)		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)		TGCAGGCCCTGAACATGTCTG	0.567																																							uc001zhi.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(5554-5556)CTG>CTA		ryanodine receptor 3							46.0	46.0	46.0					15																	33955875		2030	4189	6219	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33955875G>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.5556G>A	15.37:g.33955875G>A						RYR3_uc010bar.2_Silent_p.L1852L	p.L1852L	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)	36	5626	+		all_lung(180;7.18e-09)	1852			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.5556G>A	CCDS45210.1																																																																																				0.567	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			5	35	0	0	0	0.001168	0	5	35				
PLA2G4F	255189	broad.mit.edu	37	15	42434278	42434278	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:42434278G>A	ENST00000382396.4	-	20	2540	c.2454C>T	c.(2452-2454)ctC>ctT	p.L818L	PLA2G4F_ENST00000397272.3_Silent_p.L820L			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	818	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)	p.L818L(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		TGTATCGACTGAGGGCCACCA	0.587																																							uc001zoz.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)	4						c.(2452-2454)CTC>CTT		phospholipase A2, group IVF							75.0	68.0	71.0					15																	42434278		2203	4299	6502	SO:0001819	synonymous_variant	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42434278G>A		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.2454C>T	15.37:g.42434278G>A						PLA2G4F_uc010bcq.2_Silent_p.L115L|PLA2G4F_uc001zoy.2_Silent_p.L450L|PLA2G4F_uc010bcr.2_Silent_p.L569L|PLA2G4F_uc001zpa.2_Silent_p.L569L|PLA2G4F_uc010bcs.2_Silent_p.L605L	p.L818L	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	20	2517	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	818			PLA2c.		Q6ZMC8	Silent	SNP	ENST00000382396.4	37	c.2454C>T	CCDS32204.1																																																																																				0.587	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		11	70	0	0	0	0.008291	0	11	70				
UBR1	197131	broad.mit.edu	37	15	43258422	43258422	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:43258422G>A	ENST00000290650.4	-	41	4598	c.4520C>T	c.(4519-4521)cCt>cTt	p.P1507L	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1507					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P1507L(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GCGAAGATAAGGGGTGATGCC	0.433																																							uc001zqq.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(4519-4521)CCT>CTT		ubiquitin protein ligase E3 component n-recognin							129.0	113.0	119.0					15																	43258422		2203	4299	6502	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43258422G>A		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.4520C>T	15.37:g.43258422G>A	ENSP00000290650:p.Pro1507Leu						p.P1507L	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	41	4586	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	1507					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.4520C>T	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963004	0.92791	.	.	ENSG00000159459	ENST00000290650	T	0.61627	0.09	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.79040	0.4379	M	0.92649	3.33	0.80722	D	1	D	0.59767	0.986	P	0.56398	0.797	D	0.83886	0.0282	10	0.72032	D	0.01	-32.3029	17.9069	0.88921	0.0:0.0:1.0:0.0	.	1507	Q8IWV7	UBR1_HUMAN	L	1507	ENSP00000290650:P1507L	ENSP00000290650:P1507L	P	-	2	0	UBR1	41045714	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.872000	0.75536	2.770000	0.95276	0.655000	0.94253	CCT		0.433	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		6	94	0	0	0	0.001168	0	6	94				
UNC13C	440279	broad.mit.edu	37	15	54305855	54305855	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:54305855G>T	ENST00000260323.11	+	1	755	c.755G>T	c.(754-756)gGa>gTa	p.G252V	UNC13C_ENST00000537900.1_Missense_Mutation_p.G252V|UNC13C_ENST00000545554.1_Missense_Mutation_p.G252V	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	252					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.G252V(4)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAACTTCAGGGAATAAGTCAG	0.463																																							uc002ack.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(5)|pancreas(2)	7						c.(754-756)GGA>GTA		unc-13 homolog C							76.0	75.0	75.0					15																	54305855		1945	4149	6094	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54305855G>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.755G>T	15.37:g.54305855G>T	ENSP00000260323:p.Gly252Val						p.G252V	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	755	+			252					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.755G>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107594	0.77096	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.91124	-2.79;-2.79;-2.79	4.97	4.97	0.65823	.	.	.	.	.	D	0.92678	0.7673	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93870	0.7161	9	0.87932	D	0	.	17.243	0.87019	0.0:0.0:1.0:0.0	.	252	Q8NB66	UN13C_HUMAN	V	252	ENSP00000260323:G252V;ENSP00000438156:G252V;ENSP00000442569:G252V	ENSP00000260323:G252V	G	+	2	0	UNC13C	52093147	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.785000	0.99042	2.281000	0.76405	0.650000	0.86243	GGA		0.463	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		30	95	1	0	2.4375e-19	0.007291	3.11238e-19	30	95				
UNC13C	440279	broad.mit.edu	37	15	54306827	54306827	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:54306827G>T	ENST00000260323.11	+	1	1727	c.1727G>T	c.(1726-1728)aGc>aTc	p.S576I	UNC13C_ENST00000537900.1_Missense_Mutation_p.S576I|UNC13C_ENST00000545554.1_Missense_Mutation_p.S576I	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	576					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.S576I(4)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACTAATGGAAGCTCTCTCCTG	0.433																																							uc002ack.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(5)|pancreas(2)	7						c.(1726-1728)AGC>ATC		unc-13 homolog C							61.0	59.0	60.0					15																	54306827		1871	4107	5978	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54306827G>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1727G>T	15.37:g.54306827G>T	ENSP00000260323:p.Ser576Ile						p.S576I	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	1727	+			576					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.1727G>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840756	0.51057	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.81659	-1.52;-1.52;-1.52	5.17	5.17	0.71159	.	.	.	.	.	T	0.78020	0.4218	L	0.27053	0.805	0.37935	D	0.932142	D	0.56521	0.976	P	0.49140	0.601	T	0.83198	-0.0080	9	0.87932	D	0	.	17.8213	0.88651	0.0:0.0:1.0:0.0	.	576	Q8NB66	UN13C_HUMAN	I	576	ENSP00000260323:S576I;ENSP00000438156:S576I;ENSP00000442569:S576I	ENSP00000260323:S576I	S	+	2	0	UNC13C	52094119	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.358000	0.79466	2.684000	0.91462	0.655000	0.94253	AGC		0.433	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		12	51	1	0	9.05144e-12	0.016723	1.06872e-11	12	51				
UNC13C	440279	broad.mit.edu	37	15	54307661	54307661	+	Missense_Mutation	SNP	C	C	A	rs375077921		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:54307661C>A	ENST00000260323.11	+	1	2561	c.2561C>A	c.(2560-2562)aCg>aAg	p.T854K	UNC13C_ENST00000537900.1_Missense_Mutation_p.T854K|UNC13C_ENST00000545554.1_Missense_Mutation_p.T854K	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	854					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.T854K(4)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GATGTCTACACGGAGCCCTAT	0.423																																							uc002ack.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(5)|pancreas(2)	7						c.(2560-2562)ACG>AAG		unc-13 homolog C							64.0	64.0	64.0					15																	54307661		1921	4123	6044	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54307661C>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.2561C>A	15.37:g.54307661C>A	ENSP00000260323:p.Thr854Lys						p.T854K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	2561	+			854					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.2561C>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.359658	0.41801	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.79940	-1.32;-1.32;-1.32	5.42	5.42	0.78866	.	.	.	.	.	T	0.73536	0.3599	N	0.24115	0.695	0.30450	N	0.775383	P	0.44090	0.826	B	0.40741	0.339	T	0.75320	-0.3359	9	0.56958	D	0.05	.	18.2128	0.89876	0.0:1.0:0.0:0.0	.	854	Q8NB66	UN13C_HUMAN	K	854	ENSP00000260323:T854K;ENSP00000438156:T854K;ENSP00000442569:T854K	ENSP00000260323:T854K	T	+	2	0	UNC13C	52094953	0.979000	0.34478	1.000000	0.80357	0.996000	0.88848	2.950000	0.49081	2.531000	0.85337	0.650000	0.86243	ACG		0.423	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		28	55	1	0	2.4375e-19	0.007291	3.11238e-19	28	55				
TCF12	6938	broad.mit.edu	37	15	57525012	57525012	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:57525012G>A	ENST00000267811.5	+	11	1232	c.928G>A	c.(928-930)Gcc>Acc	p.A310T	TCF12_ENST00000438423.2_Missense_Mutation_p.A310T|TCF12_ENST00000543579.1_Missense_Mutation_p.A140T|TCF12_ENST00000343827.3_Missense_Mutation_p.A140T|TCF12_ENST00000537840.1_Missense_Mutation_p.A74T|TCF12_ENST00000557843.1_Missense_Mutation_p.A310T|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000452095.2_Missense_Mutation_p.A306T|TCF12_ENST00000333725.5_Missense_Mutation_p.A310T	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	310					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)	p.A310T(4)|p.A306T(2)|p.A140T(2)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TTACGTTGCTGCCTCACACAC	0.473			T	TEC	extraskeletal myxoid chondrosarcoma																																		uc002aec.2		NA		Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma		8	Substitution - Missense(8)		lung(8)	central_nervous_system(5)|ovary(2)|lung(1)	8						c.(928-930)GCC>ACC		transcription factor 12 isoform b							149.0	107.0	121.0					15																	57525012		2192	4292	6484	SO:0001583	missense	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57525012G>A	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.928G>A	15.37:g.57525012G>A	ENSP00000267811:p.Ala310Thr					TCF12_uc010ugm.1_Missense_Mutation_p.A362T|TCF12_uc010ugn.1_Missense_Mutation_p.A306T|TCF12_uc002aea.2_Missense_Mutation_p.A310T|TCF12_uc010bfs.2_Intron|TCF12_uc002aeb.2_Missense_Mutation_p.A310T|TCF12_uc002aed.2_Missense_Mutation_p.A310T|TCF12_uc002aee.2_Missense_Mutation_p.A140T|TCF12_uc010bft.2_Missense_Mutation_p.A140T|TCF12_uc010ugo.1_Missense_Mutation_p.A74T	p.A310T	NM_207038	NP_996921	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	11	1212	+		Colorectal(260;0.0907)	310					Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	ENST00000267811.5	37	c.928G>A	CCDS10159.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169301	0.57584	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725;ENST00000543579;ENST00000537840;ENST00000343827	T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.62	5.62	0.85841	.	0.148779	0.64402	D	0.000014	T	0.47967	0.1474	L	0.54323	1.7	0.54753	D	0.999988	B;P;P;P;B;B;B	0.51791	0.038;0.732;0.763;0.948;0.002;0.003;0.005	B;B;B;P;B;B;B	0.47430	0.04;0.185;0.311;0.547;0.005;0.004;0.009	T	0.28776	-1.0033	10	0.23891	T	0.37	-30.4627	19.6554	0.95833	0.0:0.0:1.0:0.0	.	74;306;362;140;140;310;310	B4E1W1;E9PGY0;F5H6Z6;F5GY10;Q99081-2;Q99081;Q99081-3	.;.;.;.;.;HTF4_HUMAN;.	T	362;310;310;306;310;140;74;140	ENSP00000267811:A310T;ENSP00000388940:A310T;ENSP00000396881:A306T;ENSP00000331057:A310T;ENSP00000440017:A140T;ENSP00000444696:A74T;ENSP00000342459:A140T	ENSP00000267811:A310T	A	+	1	0	TCF12	55312304	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.198000	0.58419	2.653000	0.90120	0.557000	0.71058	GCC		0.473	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		35	62	0	0	0	0.021022	0	35	62				
AQP9	366	broad.mit.edu	37	15	58458996	58458996	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:58458996C>T	ENST00000219919.4	+	2	606	c.236C>T	c.(235-237)tCt>tTt	p.S79F	ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.S79F|AQP9_ENST00000558772.1_Missense_Mutation_p.S14F	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	79					amine transport (GO:0015837)|canalicular bile acid transport (GO:0015722)|carboxylic acid transport (GO:0046942)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|glycerol transport (GO:0015793)|immune response (GO:0006955)|metabolic process (GO:0008152)|polyol transport (GO:0015791)|purine nucleobase transport (GO:0006863)|pyrimidine nucleobase transport (GO:0015855)|pyrimidine-containing compound transmembrane transport (GO:0072531)|response to mercury ion (GO:0046689)|response to organic substance (GO:0010033)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water homeostasis (GO:0030104)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carboxylic acid transmembrane transporter activity (GO:0046943)|glycerol channel activity (GO:0015254)|polyol transmembrane transporter activity (GO:0015166)|porin activity (GO:0015288)|purine nucleobase transmembrane transporter activity (GO:0005345)|pyrimidine nucleobase transmembrane transporter activity (GO:0005350)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.S79F(2)		endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		GGCGGTGTCTCTGGTAAGCAG	0.448																																							uc002aez.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(235-237)TCT>TTT		aquaporin 9							178.0	159.0	165.0					15																	58458996		2192	4292	6484	SO:0001583	missense	366				cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	g.chr15:58458996C>T	AF016495	CCDS10165.1	15q	2005-09-20			ENSG00000103569	ENSG00000103569		"""Ion channels / Aquaporins"""	643	protein-coding gene	gene with protein product		602914					Standard	NM_020980		Approved	SSC1, HsT17287	uc002aez.2	O43315	OTTHUMG00000132631	ENST00000219919.4:c.236C>T	15.37:g.58458996C>T	ENSP00000219919:p.Ser79Phe					ALDH1A2_uc010ugw.1_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.S14F	p.S79F	NM_020980	NP_066190	O43315	AQP9_HUMAN		GBM - Glioblastoma multiforme(80;0.16)	2	593	+			79			Cytoplasmic (Potential).		Q9NP32	Missense_Mutation	SNP	ENST00000219919.4	37	c.236C>T	CCDS10165.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242048	0.58995	.	.	ENSG00000103569	ENST00000219919;ENST00000536493	D;D	0.93488	-3.23;-3.23	4.76	4.76	0.60689	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	D	0.98359	0.9455	H	0.99516	4.605	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.99632	1.0986	10	0.87932	D	0	.	16.7107	0.85384	0.0:1.0:0.0:0.0	.	79	O43315	AQP9_HUMAN	F	79	ENSP00000219919:S79F;ENSP00000441390:S79F	ENSP00000219919:S79F	S	+	2	0	AQP9	56246288	1.000000	0.71417	1.000000	0.80357	0.171000	0.22731	6.752000	0.74898	2.485000	0.83878	0.561000	0.74099	TCT		0.448	AQP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255878.2	NM_020980		18	193	0	0	0	0.00499	0	18	193				
LIPC	3990	broad.mit.edu	37	15	58830684	58830684	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:58830684C>A	ENST00000356113.6	+	4	856	c.241C>A	c.(241-243)Ctg>Atg	p.L81M	LIPC_ENST00000299022.5_Missense_Mutation_p.L81M|LIPC_ENST00000433326.2_Missense_Mutation_p.L81M|LIPC_ENST00000414170.3_Missense_Mutation_p.L81M			P11150	LIPC_HUMAN	lipase, hepatic	81					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)	p.L81M(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		CAACTCCTCCCTGCCTCTGGT	0.473																																							uc010bga.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(241-243)CTG>ATG		lipase C precursor							146.0	136.0	140.0					15																	58830684		2192	4292	6484	SO:0001583	missense	3990				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	g.chr15:58830684C>A		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.241C>A	15.37:g.58830684C>A	ENSP00000348425:p.Leu81Met					LIPC_uc010bfz.1_Missense_Mutation_p.L81M|LIPC_uc002afa.1_Missense_Mutation_p.L81M|LIPC_uc010bgb.1_Intron|LIPC_uc010ugy.1_Missense_Mutation_p.L81M	p.L81M	NM_000236	NP_000227	P11150	LIPC_HUMAN		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)	4	849	+		Colorectal(260;0.215)	81					A2RUB4|A8K9B6|O43571|P78529|Q99465	Missense_Mutation	SNP	ENST00000356113.6	37	c.241C>A	CCDS10166.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.426171	0.43020	.	.	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022;ENST00000433326	D;D;D;D	0.91631	-2.71;-2.71;-2.71;-2.88	5.08	2.2	0.27929	Lipase, N-terminal (1);	0.801600	0.11596	N	0.548186	D	0.95774	0.8625	M	0.92784	3.345	0.09310	N	1	P;D	0.56968	0.537;0.978	B;P	0.60682	0.377;0.878	D	0.87609	0.2502	10	0.33940	T	0.23	.	9.1403	0.36899	0.0:0.7062:0.0:0.2938	.	81;81	E7EUK6;P11150	.;LIPC_HUMAN	M	81	ENSP00000348425:L81M;ENSP00000395569:L81M;ENSP00000299022:L81M;ENSP00000395002:L81M	ENSP00000299022:L81M	L	+	1	2	LIPC	56617976	0.051000	0.20477	0.003000	0.11579	0.804000	0.45430	0.671000	0.25172	0.323000	0.23307	0.514000	0.50259	CTG		0.473	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1			65	200	1	0	1.40369e-38	0.01441	1.93748e-38	65	200				
FAM96A	84191	broad.mit.edu	37	15	64380925	64380925	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:64380925T>A	ENST00000300030.3	-	2	499	c.250A>T	c.(250-252)Acg>Tcg	p.T84S	FAM96A_ENST00000559950.1_Missense_Mutation_p.T84S|FAM96A_ENST00000380290.3_Missense_Mutation_p.T84S|FAM96A_ENST00000557835.1_Missense_Mutation_p.T84S	NM_032231.4	NP_115607.1	Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	84					chromosome segregation (GO:0007059)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.T84S(2)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						ACTGTTGGCGTGAACCTGATA	0.348																																							uc002amt.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(250-252)ACG>TCG		family with sequence similarity 96, member A							85.0	79.0	81.0					15																	64380925		2203	4300	6503	SO:0001583	missense	84191				chromosome segregation			g.chr15:64380925T>A		CCDS10189.1, CCDS45278.1	15q22.31	2014-01-16			ENSG00000166797	ENSG00000166797			26235	protein-coding gene	gene with protein product						23891004	Standard	NM_032231		Approved	FLJ22875	uc002amt.1	Q9H5X1	OTTHUMG00000132961	ENST00000300030.3:c.250A>T	15.37:g.64380925T>A	ENSP00000300030:p.Thr84Ser					FAM96A_uc002amu.1_Missense_Mutation_p.T84S|FAM96A_uc010uin.1_Missense_Mutation_p.T84S	p.T84S	NM_032231	NP_115607	Q9H5X1	FA96A_HUMAN			2	490	-			84					A6NKS1|B2R5F8|B7Z8Z5	Missense_Mutation	SNP	ENST00000300030.3	37	c.250A>T	CCDS10189.1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.043440	0.55003	.	.	ENSG00000166797	ENST00000300030;ENST00000380290	.	.	.	5.78	5.78	0.91487	Domain of unknown function DUF59 (1);	0.173927	0.52532	D	0.000071	T	0.60508	0.2274	L	0.58669	1.825	0.35239	D	0.777658	B;B	0.17465	0.022;0.004	B;B	0.21151	0.033;0.002	T	0.66909	-0.5804	9	0.59425	D	0.04	-24.5999	14.1171	0.65161	0.0:0.0:0.0:1.0	.	84;84	B7Z8Z5;Q9H5X1	.;FA96A_HUMAN	S	84	.	ENSP00000300030:T84S	T	-	1	0	FAM96A	62167978	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.714000	0.68422	2.208000	0.71279	0.529000	0.55759	ACG		0.348	FAM96A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256520.1	NM_032231		15	46	0	0	0	0.003163	0	15	46				
PLEKHO2	80301	broad.mit.edu	37	15	65157686	65157686	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:65157686G>T	ENST00000323544.4	+	6	1200	c.1072G>T	c.(1072-1074)Gct>Tct	p.A358S	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	358	Pro-rich.							p.A358S(2)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCCCTCTCAGGCTGAGGGCAC	0.617																																							uc002anv.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(1072-1074)GCT>TCT		pleckstrin homology domain containing, family O							71.0	71.0	71.0					15																	65157686		2202	4299	6501	SO:0001583	missense	80301							g.chr15:65157686G>T	AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"""Pleckstrin homology (PH) domain containing"""	30026	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family Q member 1"""	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.1072G>T	15.37:g.65157686G>T	ENSP00000326706:p.Ala358Ser					PLEKHO2_uc010bgz.2_Missense_Mutation_p.A34S|PLEKHO2_uc002anw.2_Missense_Mutation_p.A308S	p.A358S	NM_025201	NP_079477	Q8TD55	PKHO2_HUMAN			6	1206	+			358			Pro-rich.		Q7L4H4|Q8WYS8	Missense_Mutation	SNP	ENST00000323544.4	37	c.1072G>T	CCDS10196.1	.	.	.	.	.	.	.	.	.	.	G	0.300	-0.974348	0.02215	.	.	ENSG00000241839	ENST00000323544	T	0.32515	1.45	5.42	2.09	0.27110	.	0.905311	0.09724	N	0.764035	T	0.19327	0.0464	L	0.27053	0.805	0.09310	N	1	B;B	0.22683	0.073;0.043	B;B	0.24701	0.055;0.025	T	0.34403	-0.9830	10	0.11794	T	0.64	.	7.3076	0.26457	0.3642:0.0:0.6358:0.0	.	308;358	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	S	358	ENSP00000326706:A358S	ENSP00000326706:A358S	A	+	1	0	PLEKHO2	62944739	0.004000	0.15560	0.009000	0.14445	0.003000	0.03518	1.076000	0.30729	0.670000	0.31165	-0.140000	0.14226	GCT		0.617	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256659.1	NM_025201		31	76	1	0	9.78306e-22	0.009535	1.26985e-21	31	76				
NEO1	4756	broad.mit.edu	37	15	73528761	73528761	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:73528761C>G	ENST00000339362.5	+	9	1812	c.1365C>G	c.(1363-1365)atC>atG	p.I455M	NEO1_ENST00000558964.1_Missense_Mutation_p.I455M|NEO1_ENST00000261908.6_Missense_Mutation_p.I455M|NEO1_ENST00000560262.1_Missense_Mutation_p.I455M|NEO1_ENST00000560352.1_3'UTR			Q92859	NEO1_HUMAN	neogenin 1	455	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.I455M(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CCCGCTTCATCAAATTGACGT	0.552																																							uc002avm.3		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(1363-1365)ATC>ATG		neogenin homolog 1 precursor							212.0	160.0	178.0					15																	73528761		2198	4297	6495	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73528761C>G	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.1365C>G	15.37:g.73528761C>G	ENSP00000341198:p.Ile455Met					NEO1_uc010ukx.1_Missense_Mutation_p.I455M|NEO1_uc010uky.1_Missense_Mutation_p.I455M|NEO1_uc010ukz.1_Translation_Start_Site|NEO1_uc002avn.3_Missense_Mutation_p.I120M	p.I455M	NM_002499	NP_002490	Q92859	NEO1_HUMAN			8	1507	+			455			Extracellular (Potential).|Fibronectin type-III 1.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.1365C>G	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867104	0.72065	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.58797	0.31;0.31	6.06	5.13	0.70059	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.045877	0.85682	D	0.000000	T	0.66723	0.2818	L	0.56199	1.76	0.80722	D	1	P;P;B;P	0.46064	0.87;0.605;0.36;0.872	D;D;D;D	0.63877	0.914;0.919;0.919;0.919	T	0.63514	-0.6620	10	0.26408	T	0.33	-22.3716	9.3969	0.38408	0.1434:0.7842:0.0:0.0724	.	455;455;193;455	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	M	455;193;455	ENSP00000341198:I455M;ENSP00000261908:I455M	ENSP00000261908:I455M	I	+	3	3	NEO1	71315814	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.514000	0.60482	1.547000	0.49401	0.655000	0.94253	ATC		0.552	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		55	186	0	0	0	0.01441	0	55	186				
CYP1A1	1543	broad.mit.edu	37	15	75014042	75014042	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:75014042A>T	ENST00000379727.3	-	3	1040	c.842T>A	c.(841-843)aTc>aAc	p.I281N	CYP1A1_ENST00000564596.1_Missense_Mutation_p.I20N|CYP1A1_ENST00000567032.1_Missense_Mutation_p.I281N|CYP1A1_ENST00000395049.4_Missense_Mutation_p.I281N|CYP1A1_ENST00000395048.2_Missense_Mutation_p.I281N			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	281					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)	p.I281N(2)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	GCTGTCTGTGATGTCCCGGAT	0.512									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																														uc002ayp.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)|pancreas(1)	5						c.(841-843)ATC>AAC		cytochrome P450, family 1, subfamily A,	Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)						165.0	137.0	146.0					15																	75014042		2197	4296	6493	SO:0001583	missense	1543	Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	g.chr15:75014042A>T	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.842T>A	15.37:g.75014042A>T	ENSP00000369050:p.Ile281Asn					CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_Missense_Mutation_p.I17N|CYP1A1_uc010bjx.2_Missense_Mutation_p.I17N|CYP1A1_uc002ayq.3_Missense_Mutation_p.I281N|CYP1A1_uc010bjy.2_Missense_Mutation_p.I281N|CYP1A1_uc010bjz.1_Missense_Mutation_p.I17N	p.I281N	NM_000499	NP_000490	P04798	CP1A1_HUMAN			3	964	-			281					A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	ENST00000379727.3	37	c.842T>A	CCDS10268.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.148611	0.78001	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062	T;T;T	0.68624	-0.34;-0.34;-0.34	5.05	5.05	0.67936	.	0.142496	0.64402	D	0.000007	D	0.87505	0.6194	H	0.97103	3.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.988;0.995	D	0.91756	0.5416	10	0.87932	D	0	.	14.8743	0.70483	1.0:0.0:0.0:0.0	.	281;281	E7EMT5;P04798	.;CP1A1_HUMAN	N	281;281;281;253	ENSP00000369050:I281N;ENSP00000378488:I281N;ENSP00000378489:I281N	ENSP00000268062:I253N	I	-	2	0	CYP1A1	72801095	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.356000	0.79445	1.913000	0.55393	0.529000	0.55759	ATC		0.512	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499		25	118	0	0	0	0.004656	0	25	118				
C15orf26	161502	broad.mit.edu	37	15	81428997	81428997	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:81428997G>A	ENST00000286732.4	+	3	383	c.300G>A	c.(298-300)caG>caA	p.Q100Q		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	100								p.Q100Q(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						ATGAAATTCAGTCCCATCTGA	0.468																																							uc002bgb.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(298-300)CAG>CAA		hypothetical protein LOC161502							132.0	135.0	134.0					15																	81428997		2106	4223	6329	SO:0001819	synonymous_variant	161502							g.chr15:81428997G>A	AK095934	CCDS42068.1	15q25.1	2012-09-10			ENSG00000156206	ENSG00000156206			26782	protein-coding gene	gene with protein product						14702039	Standard	NM_173528		Approved	FLJ38615	uc002bgb.3	Q6P656	OTTHUMG00000172263	ENST00000286732.4:c.300G>A	15.37:g.81428997G>A						C15orf26_uc010blp.1_Silent_p.Q75Q	p.Q100Q	NM_173528	NP_775799	Q6P656	CO026_HUMAN			3	327	+			100					Q8N906	Silent	SNP	ENST00000286732.4	37	c.300G>A	CCDS42068.1																																																																																				0.468	C15orf26-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417587.1	NM_173528		26	110	0	0	0	0.005443	0	26	110				
IL16	3603	broad.mit.edu	37	15	81591951	81591951	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:81591951G>A	ENST00000302987.4	+	13	2284	c.2284G>A	c.(2284-2286)Gac>Aac	p.D762N	IL16_ENST00000394660.2_Missense_Mutation_p.D762N|IL16_ENST00000394652.2_Missense_Mutation_p.D61N|IL16_ENST00000560230.1_3'UTR			Q14005	IL16_HUMAN	interleukin 16	762					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D762N(2)|p.D716N(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						ACCAAAGCTGGACACCGCCAA	0.562																																							uc002bgh.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)|lung(1)|skin(1)	4						c.(2284-2286)GAC>AAC		interleukin 16 isoform 2							78.0	81.0	80.0					15																	81591951		2203	4300	6503	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81591951G>A	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.2284G>A	15.37:g.81591951G>A	ENSP00000302935:p.Asp762Asn					IL16_uc010blq.1_Missense_Mutation_p.D716N|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.D804N|IL16_uc002bgg.2_Missense_Mutation_p.D762N|IL16_uc002bgi.1_Missense_Mutation_p.D152N|IL16_uc002bgj.2_Missense_Mutation_p.D256N|IL16_uc002bgk.2_Missense_Mutation_p.D61N|IL16_uc002bgl.1_Missense_Mutation_p.D61N|IL16_uc010unq.1_Missense_Mutation_p.D61N	p.D762N	NM_172217	NP_757366	Q14005	IL16_HUMAN			14	2660	+			762					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.2284G>A	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	G	8.821	0.937627	0.18206	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842;ENST00000394653;ENST00000394652;ENST00000394656	T;T;T	0.13901	2.55;2.55;3.28	5.06	5.06	0.68205	.	0.275571	0.25668	N	0.029082	T	0.16085	0.0387	M	0.65975	2.015	0.09310	N	0.999994	B;B;B;P;B;B	0.39665	0.011;0.027;0.006;0.682;0.004;0.178	B;B;B;B;B;B	0.36534	0.015;0.008;0.003;0.227;0.005;0.157	T	0.18618	-1.0331	10	0.44086	T	0.13	.	11.1421	0.48408	0.0853:0.0:0.9147:0.0	.	594;256;299;152;762;762	F8W7Z5;Q6ZTT5;B7Z8M3;B3KY62;Q14005;Q14005-2	.;.;.;.;IL16_HUMAN;.	N	762;594;762;299;152;61;61	ENSP00000378155:D762N;ENSP00000302935:D762N;ENSP00000378147:D61N	ENSP00000302935:D762N	D	+	1	0	IL16	79379006	0.998000	0.40836	0.058000	0.19502	0.019000	0.09904	4.311000	0.59147	2.338000	0.79540	0.655000	0.94253	GAC		0.562	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		18	98	0	0	0	0.007413	0	18	98				
EFTUD1	79631	broad.mit.edu	37	15	82533698	82533698	+	Silent	SNP	C	C	A	rs370998689		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:82533698C>A	ENST00000268206.7	-	5	459	c.291G>T	c.(289-291)gtG>gtT	p.V97V	EFTUD1_ENST00000359445.3_Silent_p.V46V	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	97	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)	p.V97V(2)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						AGGAAAAGTCCACGTGTCCTG	0.423																																							uc002bgt.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(289-291)GTG>GTT		elongation factor Tu GTP binding domain							88.0	78.0	81.0					15																	82533698		1928	4132	6060	SO:0001819	synonymous_variant	79631				mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	g.chr15:82533698C>A	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.291G>T	15.37:g.82533698C>A						EFTUD1_uc002bgu.1_Silent_p.V46V	p.V97V	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN			5	460	-			97					A6NKY5|B7Z6I0|Q9H8Z6	Silent	SNP	ENST00000268206.7	37	c.291G>T	CCDS42071.1																																																																																				0.423	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580		14	55	1	0	4.3838e-07	0.016723	4.8407e-07	14	55				
ADAMTSL3	57188	broad.mit.edu	37	15	84611402	84611402	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:84611402G>T	ENST00000286744.5	+	18	2396	c.2172G>T	c.(2170-2172)caG>caT	p.Q724H	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.Q724H	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	724	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Q724H(2)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGGAATTCAGACCCGAGATG	0.532																																							uc002bjz.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(2170-2172)CAG>CAT		ADAMTS-like 3 precursor							97.0	98.0	97.0					15																	84611402		2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84611402G>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2172G>T	15.37:g.84611402G>T	ENSP00000286744:p.Gln724His					ADAMTSL3_uc010bmt.1_Missense_Mutation_p.Q724H|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.Q724H	p.Q724H	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		18	2396	+			724			TSP type-1 5.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.2172G>T	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856586	0.71834	.	.	ENSG00000156218	ENST00000286744	T	0.57752	0.38	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000005	T	0.75474	0.3854	M	0.88105	2.93	0.52501	D	0.99995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.78396	-0.2220	10	0.52906	T	0.07	.	12.7463	0.57283	0.0753:0.0:0.9247:0.0	.	724;724	P82987-2;P82987	.;ATL3_HUMAN	H	724	ENSP00000286744:Q724H	ENSP00000286744:Q724H	Q	+	3	2	ADAMTSL3	82402406	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.553000	0.67287	2.683000	0.91414	0.655000	0.94253	CAG		0.532	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		33	120	1	0	1.26612e-14	0.015359	1.54376e-14	33	120				
ADAMTSL3	57188	broad.mit.edu	37	15	84683293	84683294	+	Splice_Site	DNP	GG	GG	TT			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:84683293_84683294GG>TT	ENST00000286744.5	+	24	4197_4198	c.3973_3974GG>TT	c.(3973-3975)GGt>TTt	p.G1325F	ADAMTSL3_ENST00000567476.1_Splice_Site_p.G1325F	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1325	Ig-like C2-type 3.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.?(2)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGTTCCAAAGGTGTCCCTCAG	0.416																																							uc002bjz.3		NA																	2	Unknown(2)		lung(2)	ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.e24-1		ADAMTS-like 3 precursor																																				SO:0001630	splice_region_variant	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84683293_84683294GG>TT	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	Exception_encountered	15.37:g.84683293_84683294delinsTT						ADAMTSL3_uc010bmt.1_Splice_Site_p.G1325_splice|ADAMTSL3_uc010bmu.1_Splice_Site_p.G1325_splice	p.G1325_splice	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		24	4198	+								A1A566|A1A567|Q9ULI7	Splice_Site	DNP	ENST00000286744.5	37	c.3974_splice	CCDS10326.1																																																																																				0.416	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517	Missense_Mutation	32	138	0	0	0	0.004672	0	32	138				
NTRK3	4916	broad.mit.edu	37	15	88678465	88678465	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:88678465C>A	ENST00000360948.2	-	9	1232	c.1071G>T	c.(1069-1071)gaG>gaT	p.E357D	NTRK3_ENST00000557856.1_Missense_Mutation_p.E357D|NTRK3_ENST00000355254.2_Missense_Mutation_p.E357D|NTRK3_ENST00000317501.3_Missense_Mutation_p.E357D|NTRK3_ENST00000357724.2_Missense_Mutation_p.E357D|NTRK3_ENST00000540489.2_Missense_Mutation_p.E357D|NTRK3_ENST00000542733.2_Missense_Mutation_p.E259D|NTRK3_ENST00000558676.1_Missense_Mutation_p.E357D|NTRK3_ENST00000394480.2_Missense_Mutation_p.E357D	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	357	Ig-like C2-type 2.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E357D(6)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCTCGGAAATCTCTCCCTCTT	0.562			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																													uc002bme.1		NA		Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		congenital fibrosarcoma|Secretory breast 	ETV6/NTRK3(234)	6	Substitution - Missense(6)		lung(6)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281						c.(1069-1071)GAG>GAT		neurotrophic tyrosine kinase, receptor, type 3							212.0	198.0	203.0					15																	88678465		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88678465C>A	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1071G>T	15.37:g.88678465C>A	ENSP00000354207:p.Glu357Asp	TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Missense_Mutation_p.E357D|NTRK3_uc002bmf.1_Missense_Mutation_p.E357D|NTRK3_uc010upl.1_Missense_Mutation_p.E259D|NTRK3_uc010bnh.1_Missense_Mutation_p.E357D|NTRK3_uc002bmg.2_Missense_Mutation_p.E357D	p.E357D	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		9	1233	-			357			Ig-like C2-type 2.|Extracellular (Potential).		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.1071G>T	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.557494	0.27827	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	5.17	3.27	0.37495	Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.106118	0.64402	D	0.000004	T	0.46852	0.1414	N	0.16201	0.385	0.39019	D	0.959716	B;B;B;B;B;B	0.12013	0.0;0.005;0.0;0.0;0.004;0.0	B;B;B;B;B;B	0.15870	0.001;0.014;0.006;0.003;0.009;0.006	T	0.24333	-1.0163	10	0.26408	T	0.33	.	4.2024	0.10473	0.1608:0.5726:0.0:0.2667	.	259;357;357;357;357;357	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	D	357;357;357;357;259;357;357	ENSP00000377990:E357D;ENSP00000354207:E357D;ENSP00000350356:E357D;ENSP00000347397:E357D;ENSP00000437773:E259D;ENSP00000444673:E357D;ENSP00000318328:E357D	ENSP00000318328:E357D	E	-	3	2	NTRK3	86479469	0.997000	0.39634	0.721000	0.30653	0.883000	0.51084	0.280000	0.18790	0.551000	0.29008	-0.251000	0.11542	GAG		0.562	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				26	135	1	0	7.76418e-22	0.005443	1.00947e-21	26	135				
HAPLN3	145864	broad.mit.edu	37	15	89424754	89424754	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:89424754G>C	ENST00000359595.3	-	3	541	c.327C>G	c.(325-327)caC>caG	p.H109Q	HAPLN3_ENST00000562889.1_Missense_Mutation_p.H171Q	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	109	Ig-like V-type. {ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.H109Q(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	CAAAGGAGCGGTGCCTCAGCC	0.657																																							uc002bnc.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(325-327)CAC>CAG		hyaluronan and proteoglycan link protein 3							96.0	75.0	82.0					15																	89424754		2200	4299	6499	SO:0001583	missense	145864				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr15:89424754G>C	AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"""Immunoglobulin superfamily / V-set domain containing"""	21446	protein-coding gene	gene with protein product			"""extracellular link domain containing, 1"""	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.327C>G	15.37:g.89424754G>C	ENSP00000352606:p.His109Gln					HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Missense_Mutation_p.H171Q	p.H109Q	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN			3	455	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		109			Ig-like V-type.		A8K7P0	Missense_Mutation	SNP	ENST00000359595.3	37	c.327C>G	CCDS10346.1	.	.	.	.	.	.	.	.	.	.	G	3.593	-0.083176	0.07141	.	.	ENSG00000140511	ENST00000359595	T	0.02525	4.26	4.02	0.952	0.19584	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.296462	0.35291	N	0.003301	T	0.02119	0.0066	L	0.31420	0.93	0.42164	D	0.991615	B;B	0.12013	0.005;0.005	B;B	0.18263	0.021;0.021	T	0.52917	-0.8511	10	0.19147	T	0.46	-14.3249	6.0981	0.20031	0.2494:0.1362:0.6144:0.0	.	109;109	A8K7T8;Q96S86	.;HPLN3_HUMAN	Q	109	ENSP00000352606:H109Q	ENSP00000352606:H109Q	H	-	3	2	HAPLN3	87225758	1.000000	0.71417	0.902000	0.35471	0.124000	0.20399	1.464000	0.35288	0.176000	0.19873	-0.142000	0.14014	CAC		0.657	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232		25	96	0	0	0	0.01892	0	25	96				
PEX11A	8800	broad.mit.edu	37	15	90226986	90226986	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr15:90226986C>G	ENST00000300056.3	-	3	515	c.366G>C	c.(364-366)agG>agC	p.R122S	PEX11A_ENST00000561224.1_Intron|PEX11A_ENST00000559170.1_3'UTR|PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000561257.1_Missense_Mutation_p.R91S	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	122					brown fat cell differentiation (GO:0050873)|cellular lipid metabolic process (GO:0044255)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)	p.R122S(2)		endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			GGTGAGCAGCCCTCGTTCGCC	0.493																																							uc002boi.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(364-366)AGG>AGC		peroxisomal biogenesis factor 11 alpha							154.0	146.0	149.0					15																	90226986		2200	4299	6499	SO:0001583	missense	8800				cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane		g.chr15:90226986C>G	AF093668	CCDS10354.1, CCDS61751.1	15q	2008-08-26	2008-08-26		ENSG00000166821	ENSG00000166821			8852	protein-coding gene	gene with protein product		603866	"""peroxisomal biogenesis factor 11A"""			9792670	Standard	NM_003847		Approved	PEX11-ALPHA, MGC119947, MGC138534	uc002boi.4	O75192	OTTHUMG00000149809	ENST00000300056.3:c.366G>C	15.37:g.90226986C>G	ENSP00000300056:p.Arg122Ser					PEX11A_uc010upy.1_RNA	p.R122S	NM_003847	NP_003838	O75192	PX11A_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)		3	461	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		122			Lumenal (Potential).		B4DV88	Missense_Mutation	SNP	ENST00000300056.3	37	c.366G>C	CCDS10354.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.370044	0.42003	.	.	ENSG00000166821	ENST00000300056	T	0.43688	0.94	5.75	4.83	0.62350	.	0.371826	0.33732	N	0.004618	T	0.31009	0.0783	L	0.36672	1.1	0.80722	D	1	B	0.27625	0.183	B	0.27887	0.084	T	0.08472	-1.0720	10	0.22109	T	0.4	-0.0017	9.7509	0.40475	0.0:0.845:0.0:0.155	.	122	O75192	PX11A_HUMAN	S	122	ENSP00000300056:R122S	ENSP00000300056:R122S	R	-	3	2	PEX11A	88027990	1.000000	0.71417	0.991000	0.47740	0.643000	0.38383	1.493000	0.35605	1.430000	0.47334	0.655000	0.94253	AGG		0.493	PEX11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313420.1	NM_003847		21	178	0	0	0	0.008871	0	21	178				
WASH4P	374677	broad.mit.edu	37	16	66989	66989	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:66989A>C	ENST00000326592.9	-	5	1305	c.647T>G	c.(646-648)cTg>cGg	p.L216R	DDX11L10_ENST00000513886.1_RNA|Z84812.4_ENST00000568710.1_RNA			A8MWX3	WASH4_HUMAN	WAS protein family homolog 4 pseudogene	216					Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.L216R(1)									CTCTGCCCCCAGCATCACATG	0.582																																							uc002cfg.1		NA																	1	Substitution - Missense(1)		lung(1)		NA						c.(646-648)CTG>CGG		WAS protein family homolog 1																																				SO:0001583	missense	0							g.chr16:66989A>C			16p13.3	2014-08-28	2008-01-16	2008-01-16	ENSG00000234769	ENSG00000234769		"""WAS protein homologs"""	14126	other	unknown			"""family with sequence similarity 39, member C pseudogene"""	FAM39CP		9054936, 11701968, 18159949	Standard	NG_003159		Approved	FLJ31670		A8MWX3	OTTHUMG00000059914	ENST00000326592.9:c.647T>G	16.37:g.66989A>C	ENSP00000317542:p.Leu216Arg						p.L216R	NM_182905	NP_878908					5	1306	-									Missense_Mutation	SNP	ENST00000326592.9	37	c.647T>G		.	.	.	.	.	.	.	.	.	.	a	14.53	2.561482	0.45590	.	.	ENSG00000234769	ENST00000326592	.	.	.	0.379	0.379	0.16213	.	0.000000	0.64402	D	0.000001	T	0.40171	0.1106	.	.	.	0.48762	D	0.999706	.	.	.	.	.	.	T	0.06917	-1.0800	6	0.20519	T	0.43	-13.1895	5.0835	0.14668	0.9999:0.0:1.0E-4:0.0	.	.	.	.	R	216	.	ENSP00000317542:L216R	L	-	2	0	WASH4P	6989	1.000000	0.71417	0.987000	0.45799	0.470000	0.32858	6.422000	0.73357	0.369000	0.24510	0.155000	0.16302	CTG		0.582	WASH4P-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000133175.2	NG_003159		9	29	0	0	0	0.006214	0	9	29				
MSLNL	401827	broad.mit.edu	37	16	819450	819450	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:819450A>C	ENST00000442466.1	-	15	2086	c.2087T>G	c.(2086-2088)cTt>cGt	p.L696R	MIR662_ENST00000384847.1_RNA|MSLNL_ENST00000293892.3_Missense_Mutation_p.L1047R			Q96KJ4	MSLNL_HUMAN	mesothelin-like	696					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.L1047R(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CGTCAGCCCAAGTGGGCGTCC	0.627																																							uc002cjz.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)	4						c.(3139-3141)CTT>CGT		mesothelin-like							65.0	76.0	73.0					16																	819450		2033	4188	6221	SO:0001583	missense	401827				cell adhesion	integral to membrane		g.chr16:819450A>C			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.2087T>G	16.37:g.819450A>C	ENSP00000415767:p.Leu696Arg					MIR662_hsa-mir-662|MI0003670_5'Flank	p.L1047R	NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN			16	3140	-			696			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000442466.1	37	c.3140T>G		.	.	.	.	.	.	.	.	.	.	A	9.831	1.188456	0.21954	.	.	ENSG00000162006	ENST00000543963;ENST00000442466;ENST00000293892	T;T;T	0.21361	2.01;2.43;2.03	2.98	0.515	0.17013	.	.	.	.	.	T	0.16300	0.0392	.	.	.	0.09310	N	1	P	0.49961	0.93	B	0.41299	0.353	T	0.14364	-1.0475	8	0.87932	D	0	-0.9804	5.5307	0.16983	0.3686:0.0:0.6314:0.0	.	696	Q96KJ4	MSLNL_HUMAN	R	746;696;1047	ENSP00000441381:L746R;ENSP00000415767:L696R;ENSP00000293892:L1047R	ENSP00000293892:L1047R	L	-	2	0	MSLNL	759451	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.229000	0.17833	-0.020000	0.14032	0.334000	0.21626	CTT		0.627	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		17	91	0	0	0	0.00499	0	17	91				
SSTR5	6755	broad.mit.edu	37	16	1129358	1129358	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:1129358T>A	ENST00000293897.4	+	1	578	c.490T>A	c.(490-492)Tgg>Agg	p.W164R	SSTR5-AS1_ENST00000569832.1_RNA|SSTR5_ENST00000562758.1_Missense_Mutation_p.W164R|SSTR5_ENST00000397547.2_Missense_Mutation_p.W164R	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	164					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	CGCCGCGGCCTGGGTCCTGTC	0.721																																							uc002ckq.2		NA																	0				lung(1)	1						c.(490-492)TGG>AGG		somatostatin receptor 5	Octreotide(DB00104)						12.0	15.0	14.0					16																	1129358		2156	4185	6341	SO:0001583	missense	6755				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129358T>A	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"""GPCR / Class A : Somatostatin receptors"""	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.490T>A	16.37:g.1129358T>A	ENSP00000293897:p.Trp164Arg					LOC146336_uc002cko.2_5'Flank|LOC146336_uc002ckp.1_5'Flank	p.W164R	NM_001053	NP_001044	P35346	SSR5_HUMAN			1	578	+		Hepatocellular(780;0.00369)	164			Helical; Name=4; (Potential).		P34988|Q541E0|Q9UJI5	Missense_Mutation	SNP	ENST00000293897.4	37	c.490T>A	CCDS10429.1	.	.	.	.	.	.	.	.	.	.	T	14.17	2.456086	0.43634	.	.	ENSG00000162009	ENST00000397547;ENST00000293897;ENST00000539762	D;D	0.88896	-2.44;-2.44	4.87	4.87	0.63330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.96889	0.8984	H	0.99357	4.53	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.98158	1.0445	10	0.87932	D	0	.	13.6381	0.62233	0.0:0.0:0.0:1.0	.	164	P35346	SSR5_HUMAN	R	164	ENSP00000380680:W164R;ENSP00000293897:W164R	ENSP00000293897:W164R	W	+	1	0	SSTR5	1069359	1.000000	0.71417	0.991000	0.47740	0.136000	0.21042	4.922000	0.63404	1.833000	0.53350	0.459000	0.35465	TGG		0.721	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			3	9	0	0	0	0.006214	0	3	9				
MKL2	57496	broad.mit.edu	37	16	14340513	14340513	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:14340513C>T	ENST00000341243.5	+	10	1363	c.1363C>T	c.(1363-1365)Ccg>Tcg	p.P455S	MKL2_ENST00000571589.1_Missense_Mutation_p.P466S|MKL2_ENST00000574045.1_Missense_Mutation_p.P466S|MKL2_ENST00000318282.5_Missense_Mutation_p.P466S			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	455					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGTGGCCTTGCCGGTTACAAC	0.532																																							uc010uza.1		NA																	0				ovary(3)|kidney(1)|pancreas(1)	5						c.(1396-1398)CCG>TCG		megakaryoblastic leukemia 2 protein							177.0	155.0	163.0					16																	14340513		2197	4300	6497	SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14340513C>T	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.1363C>T	16.37:g.14340513C>T	ENSP00000345841:p.Pro455Ser					MKL2_uc002dcg.2_Missense_Mutation_p.P466S|MKL2_uc002dcj.2_5'Flank	p.P466S	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN			12	1551	+			455					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37	c.1396C>T		.	.	.	.	.	.	.	.	.	.	C	10.93	1.489426	0.26686	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.75	5.75	0.90469	.	0.231564	0.43919	D	0.000516	T	0.77082	0.4078	M	0.74881	2.28	0.37841	D	0.929052	B;D	0.89917	0.172;1.0	B;D	0.87578	0.023;0.998	T	0.78957	-0.1999	9	0.42905	T	0.14	-20.986	12.2586	0.54636	0.0:0.9229:0.0:0.0771	.	466;466	B4DGT8;Q9ULH7-4	.;.	S	466;455	.	ENSP00000339086:P466S	P	+	1	0	MKL2	14248014	1.000000	0.71417	0.950000	0.38849	0.246000	0.25737	2.320000	0.43797	2.712000	0.92718	0.655000	0.94253	CCG		0.532	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		4	193	0	0	0	0.009096	0	4	193				
MYH11	4629	broad.mit.edu	37	16	15917231	15917231	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:15917231T>C	ENST00000300036.5	-	3	492	c.383A>G	c.(382-384)tAt>tGt	p.Y128C	MYH11_ENST00000396324.3_Missense_Mutation_p.Y128C|MYH11_ENST00000576790.2_Missense_Mutation_p.Y128C|MYH11_ENST00000452625.2_Missense_Mutation_p.Y128C	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	128	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.Y128C(4)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CAGGTGTTTATAGGGGTTGAC	0.557			T	CBFB	AML																																		uc002ddy.2		NA		Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		4	Substitution - Missense(4)		lung(4)	ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(382-384)TAT>TGT		smooth muscle myosin heavy chain 11 isoform							189.0	143.0	159.0					16																	15917231		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15917231T>C	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.383A>G	16.37:g.15917231T>C	ENSP00000300036:p.Tyr128Cys					MYH11_uc002ddv.2_Missense_Mutation_p.Y128C|MYH11_uc002ddw.2_Missense_Mutation_p.Y128C|MYH11_uc002ddx.2_Missense_Mutation_p.Y128C|MYH11_uc010bvg.2_5'UTR|MYH11_uc002deb.3_Missense_Mutation_p.Y128C	p.Y128C	NM_002474	NP_002465	P35749	MYH11_HUMAN			3	490	-			128			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.383A>G	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.455809	0.84209	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92	5.58	5.58	0.84498	Myosin head, motor domain (3);	0.000000	0.64402	D	0.000001	D	0.97551	0.9198	H	0.97635	4.045	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	0.91635	0.999;0.994;0.994;0.99;0.99	D	0.98911	1.0780	10	0.87932	D	0	.	14.9298	0.70906	0.0:0.0:0.0:1.0	.	128;128;128;128;128	Q4G140;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	C	128	ENSP00000300036:Y128C;ENSP00000345136:Y128C;ENSP00000379616:Y128C;ENSP00000407821:Y128C	ENSP00000300036:Y128C	Y	-	2	0	MYH11	15824732	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.948000	0.87774	2.122000	0.65172	0.533000	0.62120	TAT		0.557	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		75	158	0	0	0	0.01441	0	75	158				
PDILT	204474	broad.mit.edu	37	16	20410590	20410590	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:20410590C>T	ENST00000302451.4	-	2	281	c.33G>A	c.(31-33)gtG>gtA	p.V11V		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	11					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.V11V(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CACAAGCGGCCACCAGCAGCA	0.587																																							uc002dhc.1		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(1)	1						c.(31-33)GTG>GTA		protein disulfide isomerase-like, testis							98.0	93.0	94.0					16																	20410590		2203	4300	6503	SO:0001819	synonymous_variant	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20410590C>T		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.33G>A	16.37:g.20410590C>T							p.V11V	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			2	256	-			11					Q8IVQ5	Silent	SNP	ENST00000302451.4	37	c.33G>A	CCDS10584.1																																																																																				0.587	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		37	175	0	0	0	0.009718	0	37	175				
ACSM1	116285	broad.mit.edu	37	16	20636757	20636757	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:20636757C>A	ENST00000307493.4	-	11	1582	c.1515G>T	c.(1513-1515)ccG>ccT	p.P505P	ACSM1_ENST00000219151.4_Silent_p.P156P|ACSM1_ENST00000520010.1_Silent_p.P505P	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	505					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.P505P(2)|p.P156P(2)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CCCCTCGAATCGGGTCTGGGC	0.602																																							uc002dhm.1		NA																	4	Substitution - coding silent(4)		lung(4)	central_nervous_system(1)|skin(1)	2						c.(1513-1515)CCG>CCT		acyl-CoA synthetase medium-chain family member							62.0	51.0	55.0					16																	20636757		2201	4300	6501	SO:0001819	synonymous_variant	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20636757C>A	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.1515G>T	16.37:g.20636757C>A						ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Silent_p.P505P	p.P505P	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN			11	1583	-			505					Q08AH2|Q96A20	Silent	SNP	ENST00000307493.4	37	c.1515G>T	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	c	0.287	-0.982490	0.02180	.	.	ENSG00000166743	ENST00000524149	.	.	.	4.57	-5.85	0.02311	.	.	.	.	.	T	0.21062	0.0507	.	.	.	0.30247	N	0.794485	.	.	.	.	.	.	T	0.33189	-0.9878	4	.	.	.	.	1.6202	0.02712	0.1937:0.1386:0.3885:0.2792	.	.	.	.	L	177	.	.	R	-	2	0	ACSM1	20544258	0.000000	0.05858	0.000000	0.03702	0.196000	0.23810	-5.000000	0.00161	-0.741000	0.04797	-0.182000	0.12963	CGA		0.602	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		25	52	1	0	1.12875e-08	0.00632	1.27697e-08	25	52				
OTOA	146183	broad.mit.edu	37	16	21739597	21739597	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:21739597C>T	ENST00000286149.4	+	19	2095	c.2094C>T	c.(2092-2094)atC>atT	p.I698I	OTOA_ENST00000388956.4_Silent_p.I605I|OTOA_ENST00000388957.3_Silent_p.I360I|OTOA_ENST00000388958.3_Silent_p.I684I			Q7RTW8	OTOAN_HUMAN	otoancorin	698					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)		p.I684I(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CTGTGGACATCATGGGGAACC	0.557																																							uc002djh.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2050-2052)ATC>ATT		otoancorin isoform 1							112.0	92.0	99.0					16																	21739597		2198	4300	6498	SO:0001819	synonymous_variant	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21739597C>T	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.2094C>T	16.37:g.21739597C>T						uc002diq.3_Intron|OTOA_uc010vbj.1_Silent_p.I605I|OTOA_uc002dji.2_Silent_p.I360I|OTOA_uc010vbk.1_Silent_p.I332I	p.I684I	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	19	2053	+			698					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Silent	SNP	ENST00000286149.4	37	c.2052C>T																																																																																					0.557	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			57	135	0	0	0	0.01441	0	57	135				
IL21R	50615	broad.mit.edu	37	16	27456538	27456538	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:27456538C>G	ENST00000337929.3	+	7	1199	c.726C>G	c.(724-726)ctC>ctG	p.L242L	IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564089.1_Silent_p.L242L|IL21R_ENST00000395755.1_Silent_p.L242L|IL21R_ENST00000395754.4_Silent_p.L242L|IL21R_ENST00000564583.1_3'UTR	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	242					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)	p.L242L(2)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TGCTTCTCCTCCTGCTTGTCA	0.542			T	BCL6	NHL																																		uc002doq.1		NA		Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		2	Substitution - coding silent(2)		lung(2)	ovary(2)|lung(1)|breast(1)	4						c.(724-726)CTC>CTG		interleukin 21 receptor precursor							134.0	100.0	111.0					16																	27456538		2197	4300	6497	SO:0001819	synonymous_variant	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27456538C>G	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.726C>G	16.37:g.27456538C>G						IL21R_uc002dor.1_Silent_p.L242L|IL21R_uc002dos.1_Silent_p.L242L	p.L242L	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN			7	959	+			242			Helical; (Potential).		A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Silent	SNP	ENST00000337929.3	37	c.726C>G	CCDS10630.1																																																																																				0.542	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		28	69	0	0	0	0.007291	0	28	69				
SPN	6693	broad.mit.edu	37	16	29675057	29675057	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:29675057C>T	ENST00000360121.3	+	2	100	c.8C>T	c.(7-9)aCg>aTg	p.T3M	SPN_ENST00000395389.2_Missense_Mutation_p.T3M	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	O75398	DEAF1_HUMAN	sialophorin	0	Ala-rich.				anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						GAAATGGCCACGCTTCTCCTT	0.632																																							uc002dtm.2		NA																	0				central_nervous_system(2)	2						c.(7-9)ACG>ATG		sialophorin precursor							118.0	129.0	125.0					16																	29675057		2197	4300	6497	SO:0001583	missense	6693				blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity	g.chr16:29675057C>T	J04536	CCDS10650.1	16p11.2	2008-07-31	2008-07-31		ENSG00000197471	ENSG00000197471		"""CD molecules"""	11249	protein-coding gene	gene with protein product	"""leukosialin"""	182160	"""sialophorin (gpL115, leukosialin, CD43)"""			2784859, 2521952	Standard	NM_001030288		Approved	LSN, CD43, GPL115	uc002dtm.4	P16150	OTTHUMG00000097765	ENST00000360121.3:c.8C>T	16.37:g.29675057C>T	ENSP00000353238:p.Thr3Met					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SPN_uc002dtn.2_Missense_Mutation_p.T3M|SPN_uc010bzd.2_RNA	p.T3M	NM_001030288	NP_001025459	P16150	LEUK_HUMAN			2	144	+			3					A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000360121.3	37	c.8C>T	CCDS10650.1	.	.	.	.	.	.	.	.	.	.	.	9.054	0.992699	0.18966	.	.	ENSG00000197471	ENST00000395389;ENST00000436527;ENST00000360121	T;T;T	0.31769	1.48;1.48;1.48	4.51	1.1	0.20463	.	2.276340	0.02812	N	0.124479	T	0.17874	0.0429	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.22208	-1.0223	10	0.51188	T	0.08	1.0E-4	5.7104	0.17931	0.0:0.3389:0.0:0.6611	.	3	P16150	LEUK_HUMAN	M	3	ENSP00000378787:T3M;ENSP00000412907:T3M;ENSP00000353238:T3M	ENSP00000353238:T3M	T	+	2	0	SPN	29582558	0.001000	0.12720	0.096000	0.21009	0.007000	0.05969	0.333000	0.19768	0.335000	0.23614	-0.340000	0.08031	ACG		0.632	SPN-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215001.2			8	448	0	0	0	0.004482	0	8	448				
SRCAP	10847	broad.mit.edu	37	16	30721220	30721220	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:30721220C>T	ENST00000262518.4	+	8	1290	c.905C>T	c.(904-906)aCg>aTg	p.T302M	SRCAP_ENST00000344771.4_Missense_Mutation_p.T302M|SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000395059.2_Missense_Mutation_p.T302M	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	302	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.T302M(2)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GATGAGGAAACGATTGAAGTT	0.532																																							uc002dze.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(1)	4						c.(904-906)ACG>ATG		Snf2-related CBP activator protein							106.0	80.0	89.0					16																	30721220		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30721220C>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.905C>T	16.37:g.30721220C>T	ENSP00000262518:p.Thr302Met					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.T159M|SRCAP_uc010bzz.1_Translation_Start_Site|SNORA30_uc002dzh.1_5'Flank	p.T302M	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		8	1290	+			302			Glu-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.905C>T	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	14.51	2.555514	0.45487	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.93076	-3.16;-3.12;-3.13	5.27	5.27	0.74061	.	0.100101	0.44902	D	0.000406	D	0.96284	0.8788	M	0.72894	2.215	0.53688	D	0.99997	D;D	0.89917	1.0;1.0	D;D	0.72982	0.979;0.92	D	0.96400	0.9296	10	0.72032	D	0.01	-8.9704	17.8331	0.88688	0.0:1.0:0.0:0.0	.	302;302	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	M	302	ENSP00000262518:T302M;ENSP00000378499:T302M;ENSP00000343042:T302M	ENSP00000262518:T302M	T	+	2	0	SRCAP	30628721	1.000000	0.71417	0.987000	0.45799	0.988000	0.76386	7.112000	0.77086	2.752000	0.94435	0.655000	0.94253	ACG		0.532	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		11	105	0	0	0	0.010729	0	11	105				
CNOT1	23019	broad.mit.edu	37	16	58580244	58580244	+	Silent	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:58580244G>C	ENST00000317147.5	-	29	4319	c.3987C>G	c.(3985-3987)ctC>ctG	p.L1329L	CNOT1_ENST00000569240.1_Silent_p.L1324L|CNOT1_ENST00000441024.2_Silent_p.L1329L|CNOT1_ENST00000245138.4_Silent_p.L180L|SNORA46_ENST00000384762.1_RNA	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1329	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.L1329L(4)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGATGGGAGGGAGTTCTTCTG	0.413																																							uc002env.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(4)|central_nervous_system(2)	6						c.(3985-3987)CTC>CTG		CCR4-NOT transcription complex, subunit 1							159.0	141.0	147.0					16																	58580244		2198	4300	6498	SO:0001819	synonymous_variant	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58580244G>C	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.3987C>G	16.37:g.58580244G>C						CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Silent_p.L1324L|CNOT1_uc002enx.2_Silent_p.L1329L|CNOT1_uc010vik.1_Silent_p.L286L	p.L1329L	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	29	4280	-			1329					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Silent	SNP	ENST00000317147.5	37	c.3987C>G	CCDS10799.1																																																																																				0.413	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		22	118	0	0	0	0.01892	0	22	118				
CDH11	1009	broad.mit.edu	37	16	64981591	64981591	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:64981591T>C	ENST00000268603.4	-	13	2921	c.2306A>G	c.(2305-2307)tAt>tGt	p.Y769C	CDH11_ENST00000566827.1_Missense_Mutation_p.Y643C|CDH11_ENST00000394156.3_3'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	769					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y769C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TAGATAATCATAGTCCAAGTC	0.448			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																													uc002eoi.2		NA		Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		2	Substitution - Missense(2)		lung(2)	lung(10)|ovary(3)|skin(1)	14						c.(2305-2307)TAT>TGT		cadherin 11, type 2 preproprotein							78.0	81.0	80.0					16																	64981591		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:64981591T>C	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.2306A>G	16.37:g.64981591T>C	ENSP00000268603:p.Tyr769Cys	TSP Lung(24;0.17)				CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_3'UTR|CDH11_uc010vin.1_Missense_Mutation_p.Y643C	p.Y769C	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	13	2740	-		Ovarian(137;0.0973)	769			Cytoplasmic (Potential).		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.2306A>G	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	T	17.97	3.519301	0.64634	.	.	ENSG00000140937	ENST00000268603;ENST00000538390	T	0.79940	-1.32	6.17	6.17	0.99709	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.91446	0.7300	M	0.91561	3.22	0.80722	D	1	D	0.67145	0.996	D	0.67231	0.95	D	0.93075	0.6486	10	0.87932	D	0	.	16.0034	0.80327	0.0:0.0:0.0:1.0	.	769	P55287	CAD11_HUMAN	C	769;752	ENSP00000268603:Y769C	ENSP00000268603:Y769C	Y	-	2	0	CDH11	63539092	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	TAT		0.448	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		68	135	0	0	0	0.01441	0	68	135				
DPEP2	64174	broad.mit.edu	37	16	68026508	68026508	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:68026508C>A	ENST00000572888.1	-	2	945	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	DPEP2_ENST00000393847.1_Missense_Mutation_p.V99F|DPEP2_ENST00000412757.2_Missense_Mutation_p.V99F			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	99					arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)	p.V99F(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TTCTGGTAAACCTGCCTTAGG	0.582																																							uc010cey.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(295-297)GTT>TTT		dipeptidase 2 precursor							107.0	96.0	100.0					16																	68026508		2198	4300	6498	SO:0001583	missense	64174				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68026508C>A	AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.295G>T	16.37:g.68026508C>A	ENSP00000458977:p.Val99Phe					DPEP2_uc002evd.3_Missense_Mutation_p.V99F|DPEP2_uc002eve.2_Missense_Mutation_p.V99F|DPEP2_uc002evf.2_RNA|DPEP2_uc002evg.2_Intron	p.V99F	NM_022355	NP_071750	Q9H4A9	DPEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)	2	459	-		Ovarian(137;0.192)	99					B2RCF8|Q6UX92|Q8TC95	Missense_Mutation	SNP	ENST00000572888.1	37	c.295G>T	CCDS10857.1	.	.	.	.	.	.	.	.	.	.	C	2.957	-0.215493	0.06101	.	.	ENSG00000167261	ENST00000393847;ENST00000412757	T;T	0.21932	1.98;1.98	3.69	-1.29	0.09288	.	0.491185	0.22515	N	0.059052	T	0.02848	0.0085	N	0.00419	-1.52	0.09310	N	0.999996	B	0.02656	0.0	B	0.06405	0.002	T	0.32613	-0.9900	10	0.02654	T	1	-1.1493	0.9048	0.01282	0.3374:0.1856:0.3131:0.164	.	99	Q9H4A9	DPEP2_HUMAN	F	99	ENSP00000377430:V99F;ENSP00000412549:V99F	ENSP00000377430:V99F	V	-	1	0	DPEP2	66584009	0.000000	0.05858	0.007000	0.13788	0.636000	0.38137	-0.070000	0.11523	-0.274000	0.09232	-0.397000	0.06425	GTT		0.582	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437026.1	NM_022355		41	130	1	0	1.48734e-19	0.013114	1.91473e-19	41	130				
NFATC3	4775	broad.mit.edu	37	16	68225604	68225604	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:68225604G>A	ENST00000346183.3	+	9	3056	c.3032G>A	c.(3031-3033)aGc>aAc	p.S1011N	NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Missense_Mutation_p.S1011N|SNORA48_ENST00000391143.1_RNA|NFATC3_ENST00000329524.4_Missense_Mutation_p.S1011N|NFATC3_ENST00000349223.5_Missense_Mutation_p.S1011N	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	1011					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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.S1011N(4)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GCAACTGTGAGCATTAAACCT	0.463																																							uc002evo.1		NA																	4	Substitution - Missense(4)		lung(4)	upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	3						c.(3031-3033)AGC>AAC		nuclear factor of activated T-cells,							193.0	183.0	187.0					16																	68225604		2198	4300	6498	SO:0001583	missense	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68225604G>A	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.3032G>A	16.37:g.68225604G>A	ENSP00000300659:p.Ser1011Asn					NFATC3_uc010vkl.1_Missense_Mutation_p.S532N|NFATC3_uc010vkm.1_Missense_Mutation_p.S532N|NFATC3_uc010vkn.1_Missense_Mutation_p.S532N|NFATC3_uc010vko.1_Missense_Mutation_p.S532N|NFATC3_uc010vkp.1_Missense_Mutation_p.S532N|NFATC3_uc010vkq.1_Missense_Mutation_p.S532N|NFATC3_uc002evl.2_Missense_Mutation_p.S532N|NFATC3_uc002evk.2_Missense_Mutation_p.S1011N|NFATC3_uc002evm.1_Missense_Mutation_p.S1011N|NFATC3_uc002evn.1_Missense_Mutation_p.S1011N|NFATC3_uc010vkr.1_Missense_Mutation_p.S532N|NFATC3_uc010vks.1_Missense_Mutation_p.S532N|NFATC3_uc010vkt.1_Missense_Mutation_p.S532N|NFATC3_uc010vku.1_Missense_Mutation_p.S532N|NFATC3_uc010vkv.1_Missense_Mutation_p.S532N|NFATC3_uc010vkw.1_Missense_Mutation_p.S532N|NFATC3_uc010vkx.1_Missense_Mutation_p.S532N|NFATC3_uc010vky.1_Missense_Mutation_p.S532N|NFATC3_uc010vkz.1_Missense_Mutation_p.S532N|NFATC3_uc010vla.1_Missense_Mutation_p.S532N|NFATC3_uc010vlb.1_Missense_Mutation_p.S532N|NFATC3_uc010vlc.1_Missense_Mutation_p.S532N	p.S1011N	NM_173165	NP_775188	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	9	3242	+		Ovarian(137;0.0563)	1011					O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	37	c.3032G>A	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	G	1.545	-0.540685	0.04053	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524;ENST00000535127	T;T;T	0.06687	3.27;3.31;3.34	5.59	2.06	0.26882	.	0.198303	0.51477	N	0.000081	T	0.02230	0.0069	N	0.01874	-0.695	0.32118	N	0.588435	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.43180	-0.9407	10	0.02654	T	1	-0.2835	6.86	0.24062	0.6589:0.0:0.3411:0.0	.	1011;1011;1011;1011	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	N	1011;1011;1011;532	ENSP00000264008:S1011N;ENSP00000300659:S1011N;ENSP00000331324:S1011N	ENSP00000331324:S1011N	S	+	2	0	NFATC3	66783105	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.227000	0.42972	0.581000	0.29539	0.555000	0.69702	AGC		0.463	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		137	203	0	0	0	0.01441	0	137	203				
IST1	9798	broad.mit.edu	37	16	71955338	71955338	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:71955338A>T	ENST00000378799.6	+	6	890	c.534A>T	c.(532-534)gaA>gaT	p.E178D	IST1_ENST00000538565.1_3'UTR|IST1_ENST00000378798.5_Missense_Mutation_p.E178D|IST1_ENST00000541571.2_Missense_Mutation_p.E178D|IST1_ENST00000606369.1_Missense_Mutation_p.E30D|IST1_ENST00000535424.1_Missense_Mutation_p.E191D|IST1_ENST00000538850.1_Missense_Mutation_p.E30D|RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000544564.1_Missense_Mutation_p.E178D|IST1_ENST00000329908.8_Missense_Mutation_p.E178D			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	178	Interaction with VPS37B.				abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of proteolysis (GO:0045862)|protein localization (GO:0008104)|viral capsid secondary envelopment (GO:0046745)|viral release from host cell (GO:0019076)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|midbody (GO:0030496)	MIT domain binding (GO:0090541)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)	p.E178D(2)									TACCCTATGAACCTGACTCTG	0.393																																							uc002fbj.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(571-573)GAA>GAT		SubName: Full=cDNA FLJ32696 fis, clone TESTI2000358; SubName: Full=cDNA FLJ77725;							87.0	83.0	84.0					16																	71955338		2198	4300	6498	SO:0001583	missense	9798				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding	g.chr16:71955338A>T	BC004359	CCDS10905.1, CCDS59271.1, CCDS59272.1, CCDS59273.1, CCDS59274.1	16q22.2	2011-08-18	2011-08-18	2011-08-18	ENSG00000182149	ENSG00000182149			28977	protein-coding gene	gene with protein product			"""KIAA0174"""	KIAA0174		8724849, 19129480	Standard	NM_001270975		Approved		uc002fbm.2	P53990	OTTHUMG00000137597	ENST00000378799.6:c.534A>T	16.37:g.71955338A>T	ENSP00000368076:p.Glu178Asp					KIAA0174_uc010cgh.1_Missense_Mutation_p.E191D|KIAA0174_uc002fbk.1_Missense_Mutation_p.E178D|KIAA0174_uc002fbm.1_Missense_Mutation_p.E178D|KIAA0174_uc002fbl.1_Missense_Mutation_p.E178D|KIAA0174_uc002fbn.1_Missense_Mutation_p.E30D|KIAA0174_uc010cgi.1_Intron|KIAA0174_uc010cgj.1_Missense_Mutation_p.E110D|KIAA0174_uc010vml.1_5'Flank|KIAA0174_uc010vmk.1_Missense_Mutation_p.E30D	p.E191D			P53990	IST1_HUMAN			8	856	+			178			Interaction with VPS37B.		A8KAH5|J3QLU7|Q3SYM4|Q9BQ81|Q9BWN2	Missense_Mutation	SNP	ENST00000378799.6	37	c.573A>T	CCDS59272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.5|22.5	4.292325|4.292325	0.80914|0.80914	.|.	.|.	ENSG00000182149|ENSG00000182149	ENST00000535424;ENST00000378799;ENST00000538963;ENST00000329908;ENST00000538850;ENST00000378798;ENST00000456820|ENST00000541848	.|.	.|.	.|.	5.96|5.96	0.851|0.851	0.18989|0.18989	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68016|0.68016	0.2955|0.2955	M|M	0.69523|0.69523	2.12|2.12	0.58432|0.58432	D|D	0.99999|0.99999	P;P;P;P|.	0.51537|.	0.946;0.896;0.543;0.946|.	P;P;B;P|.	0.49528|.	0.494;0.5;0.425;0.614|.	T|T	0.65656|0.65656	-0.6115|-0.6115	9|5	0.28530|.	T|.	0.3|.	-23.437|-23.437	10.9685|10.9685	0.47426|0.47426	0.5005:0.0:0.4995:0.0|0.5005:0.0:0.4995:0.0	.|.	178;178;178;191|.	P53990;P53990-2;P53990-3;A8KAH5|.	IST1_HUMAN;.;.;.|.	D|I	191;178;167;178;30;178;116|65	.|.	ENSP00000330408:E178D|.	E|N	+|+	3|2	2|0	KIAA0174|KIAA0174	70512839|70512839	0.988000|0.988000	0.35896|0.35896	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.252000|0.252000	0.18278|0.18278	0.324000|0.324000	0.23333|0.23333	-0.182000|-0.182000	0.12963|0.12963	GAA|AAC		0.393	IST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269005.2	NM_014761		12	83	0	0	0	0.013537	0	12	83				
ZC3H18	124245	broad.mit.edu	37	16	88653008	88653008	+	Splice_Site	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:88653008G>T	ENST00000301011.5	+	3	804	c.604G>T	c.(604-606)Gat>Tat	p.D202Y	ZC3H18_ENST00000452588.2_Splice_Site_p.D202Y	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	202	Poly-Asp.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.D202Y(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TCTGTTTCAGGATGATGACCT	0.537																																					Ovarian(121;375 2276 20373 38669)	Ovarian(121;375 2276 20373 38669)	uc002fky.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(604-606)GAT>TAT		zinc finger CCCH-type containing 18							123.0	96.0	105.0					16																	88653008		2198	4300	6498	SO:0001630	splice_region_variant	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88653008G>T	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.604-1G>T	16.37:g.88653008G>T						ZC3H18_uc010voy.1_Missense_Mutation_p.D85Y|ZC3H18_uc010voz.1_Missense_Mutation_p.D202Y|ZC3H18_uc010vpa.1_Missense_Mutation_p.D202Y	p.D202Y	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	3	804	+			202			Poly-Asp.		Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	c.604G>T	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.401477	0.62288	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588;ENST00000545404	T;T	0.43294	1.03;0.95	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.62011	0.2393	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.60596	-0.7232	9	.	.	.	-23.9592	18.3833	0.90457	0.0:0.0:1.0:0.0	.	202;202;202	E7ERS3;B4DTK7;Q86VM9	.;.;ZCH18_HUMAN	Y	202;202;202;85	ENSP00000301011:D202Y;ENSP00000416951:D202Y	.	D	+	1	0	ZC3H18	87180509	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	9.161000	0.94739	2.350000	0.79820	0.462000	0.41574	GAT		0.537	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604	Missense_Mutation	23	76	1	0	2.32416e-17	0.014323	2.91077e-17	23	76				
ATP2A3	489	broad.mit.edu	37	17	3844532	3844532	+	Missense_Mutation	SNP	G	G	C	rs140617781		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:3844532G>C	ENST00000352011.3	-	14	1887	c.1833C>G	c.(1831-1833)atC>atG	p.I611M	ATP2A3_ENST00000397043.3_Missense_Mutation_p.I611M|ATP2A3_ENST00000397039.1_De_novo_Start_InFrame|ATP2A3_ENST00000309890.7_Missense_Mutation_p.I611M|ATP2A3_ENST00000397035.3_Missense_Mutation_p.I611M|ATP2A3_ENST00000359983.3_Missense_Mutation_p.I611M|ATP2A3_ENST00000397041.3_Missense_Mutation_p.I611M			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	611					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.I611M(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		AGCAGCGTGTGATGCAGGCAG	0.647																																					GBM(32;29 774 15719 37967)	GBM(32;29 774 15719 37967)	uc002fxb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)	5						c.(1831-1833)ATC>ATG		ATPase, Ca++ transporting, ubiquitous isoform b							66.0	60.0	62.0					17																	3844532		2203	4299	6502	SO:0001583	missense	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3844532G>C		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.1833C>G	17.37:g.3844532G>C	ENSP00000301387:p.Ile611Met					ATP2A3_uc002fwx.1_Missense_Mutation_p.I611M|ATP2A3_uc002fwy.1_Missense_Mutation_p.I611M|ATP2A3_uc002fwz.1_Missense_Mutation_p.I611M|ATP2A3_uc002fxa.1_Missense_Mutation_p.I611M|ATP2A3_uc002fxc.1_Missense_Mutation_p.I611M|ATP2A3_uc002fxd.1_Missense_Mutation_p.I611M	p.I611M	NM_174955	NP_777615	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	14	1984	-			611			Cytoplasmic (By similarity).		A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	ENST00000352011.3	37	c.1833C>G	CCDS11041.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.991189	0.35131	.	.	ENSG00000074370	ENST00000397043;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D	0.99418	-5.87;-5.87;-5.87;-5.87;-5.87;-5.87	4.16	-4.05	0.03998	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.066999	0.64402	D	0.000008	D	0.99263	0.9743	M	0.90483	3.12	0.38617	D	0.951051	P;P;P;P;P;P	0.46395	0.86;0.72;0.763;0.877;0.72;0.877	P;P;P;P;P;P	0.61658	0.747;0.764;0.892;0.827;0.827;0.827	D	0.99647	1.0990	10	0.54805	T	0.06	.	8.409	0.32632	0.5726:0.0:0.3223:0.1051	.	611;611;611;611;611;611	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	M	611	ENSP00000380236:I611M;ENSP00000301387:I611M;ENSP00000353072:I611M;ENSP00000380234:I611M;ENSP00000312577:I611M;ENSP00000380229:I611M	ENSP00000312577:I611M	I	-	3	3	ATP2A3	3791281	0.000000	0.05858	0.000000	0.03702	0.477000	0.33069	-0.390000	0.07332	-0.816000	0.04340	-0.254000	0.11334	ATC		0.647	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		3	107	0	0	0	0.009096	0	3	107				
TP53	7157	broad.mit.edu	37	17	7577551	7577551	+	Missense_Mutation	SNP	C	C	A	rs397516437		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:7577551C>A	ENST00000269305.4	-	7	919	c.730G>T	c.(730-732)Ggc>Tgc	p.G244C	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G244C|TP53_ENST00000420246.2_Missense_Mutation_p.G244C|TP53_ENST00000413465.2_Missense_Mutation_p.G244C|TP53_ENST00000359597.4_Missense_Mutation_p.G244C|TP53_ENST00000445888.2_Missense_Mutation_p.G244C	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	244	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).		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.G244C(45)|p.G244S(38)|p.0?(8)|p.G244R(6)|p.?(5)|p.G244fs*3(4)|p.G151C(4)|p.G244fs*4(3)|p.M243_G244>IC(1)|p.G244fs*19(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151S(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.G151R(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)	TTCATGCCGCCCATGCAGGAA	0.582		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		125	Substitution - Missense(95)|Deletion - Frameshift(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(4)|Deletion - In frame(3)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.G244C(36)|p.G244S(35)|p.G244D(32)|p.G244V(14)|p.G244G(13)|p.G244A(9)|p.0?(7)|p.G244fs*3(5)|p.G244R(3)|p.M243_G244>IC(1)|p.G244E(1)|p.G244fs*19(1)|p.G151C(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.C238_M246delCNSSCMGGM(1)	lung(23)|upper_aerodigestive_tract(11)|large_intestine(10)|liver(10)|stomach(9)|endometrium(8)|oesophagus(8)|kidney(7)|breast(7)|biliary_tract(6)|urinary_tract(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|bone(4)|central_nervous_system(3)|skin(2)|adrenal_gland(1)|soft_tissue(1)|pancreas(1)|prostate(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.(730-732)GGC>TGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							147.0	111.0	123.0					17																	7577551		2203	4300	6503	SO:0001583	missense	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.chr17:7577551C>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.730G>T	17.37:g.7577551C>A	ENSP00000269305:p.Gly244Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.G244C|TP53_uc002gih.2_Missense_Mutation_p.G244C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G112C|TP53_uc010cng.1_Missense_Mutation_p.G112C|TP53_uc002gii.1_Missense_Mutation_p.G112C|TP53_uc010cnh.1_Missense_Mutation_p.G244C|TP53_uc010cni.1_Missense_Mutation_p.G244C|TP53_uc002gij.2_Missense_Mutation_p.G244C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G151C|TP53_uc002gio.2_Missense_Mutation_p.G112C	p.G244C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	924	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	244		G -> A (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.730G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604756	0.87157	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99901	-7.65;-7.65;-7.65;-7.65;-7.65;-7.65;-7.65;-7.65	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99894	0.9949	M	0.90759	3.145	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.96044	0.9026	10	0.87932	D	0	-29.0146	15.3618	0.74483	0.0:1.0:0.0:0.0	.	244;244;151;244;244;244	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	244;244;244;244;244;244;233;151;112;151	ENSP00000410739:G244C;ENSP00000352610:G244C;ENSP00000269305:G244C;ENSP00000398846:G244C;ENSP00000391127:G244C;ENSP00000391478:G244C;ENSP00000425104:G112C;ENSP00000423862:G151C	ENSP00000269305:G244C	G	-	1	0	TP53	7518276	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		27	21	1	0	4.15321e-07	0.009535	4.59904e-07	27	21				
PIK3R5	23533	broad.mit.edu	37	17	8784284	8784284	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:8784284G>A	ENST00000447110.1	-	18	2557	c.2433C>T	c.(2431-2433)aaC>aaT	p.N811N	PIK3R5_ENST00000581552.1_Silent_p.N811N|PIK3R5_ENST00000584803.1_Silent_p.N810N	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	811					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)	p.N811N(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						AGGGGCAGCTGTTGGAGCCGA	0.562																																					NSCLC(18;589 615 7696 20311 50332)	NSCLC(18;589 615 7696 20311 50332)	uc002glt.2		NA																	2	Substitution - coding silent(2)		lung(2)	breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(2431-2433)AAC>AAT		phosphoinositide-3-kinase, regulatory subunit 5							119.0	106.0	111.0					17																	8784284		2203	4300	6503	SO:0001819	synonymous_variant	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8784284G>A	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.2433C>T	17.37:g.8784284G>A						PIK3R5_uc010vuz.1_Silent_p.N811N|PIK3R5_uc002glu.3_Silent_p.N425N	p.N811N	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN			18	2500	-			811					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Silent	SNP	ENST00000447110.1	37	c.2433C>T	CCDS11147.1																																																																																				0.562	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		38	83	0	0	0	0.011902	0	38	83				
WDR16	146845	broad.mit.edu	37	17	9532031	9532031	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:9532031C>G	ENST00000352665.5	+	9	1137	c.1068C>G	c.(1066-1068)atC>atG	p.I356M	WDR16_ENST00000299764.5_Missense_Mutation_p.I366M|WDR16_ENST00000396219.3_Missense_Mutation_p.I288M	NM_145054.4	NP_659491.4			WD repeat domain 16									p.I356M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						AGAAGGATATCAGGGTGTGGC	0.517																																							uc002gly.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1066-1068)ATC>ATG		WD40-repeat protein upregulated in HCC isoform							113.0	79.0	91.0					17																	9532031		2203	4300	6503	SO:0001583	missense	146845					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr17:9532031C>G	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"""WD repeat domain containing"""	16053	protein-coding gene	gene with protein product	"""WD40-repeat protein upregulated in HCC"""	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.1068C>G	17.37:g.9532031C>G	ENSP00000339449:p.Ile356Met					WDR16_uc002glz.2_Missense_Mutation_p.I288M|WDR16_uc010coc.2_Missense_Mutation_p.I366M	p.I356M	NM_145054	NP_659491	Q8N1V2	WDR16_HUMAN			9	1137	+			356			WD 5.			Missense_Mutation	SNP	ENST00000352665.5	37	c.1068C>G	CCDS11149.2	.	.	.	.	.	.	.	.	.	.	C	17.13	3.312000	0.60414	.	.	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	T;D;T	0.92647	0.72;-3.08;1.75	5.64	3.66	0.41972	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.96241	0.8774	M	0.92691	3.335	0.52099	D	0.999947	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.992;0.981	D	0.95357	0.8452	10	0.87932	D	0	-28.7027	8.6163	0.33833	0.0:0.7637:0.0:0.2363	.	366;288;356	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	M	356;288;366	ENSP00000339449:I356M;ENSP00000379521:I288M;ENSP00000299764:I366M	ENSP00000299764:I366M	I	+	3	3	WDR16	9472756	0.998000	0.40836	0.995000	0.50966	0.989000	0.77384	0.913000	0.28611	0.736000	0.32559	0.563000	0.77884	ATC		0.517	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316569.2	NM_145054		5	87	0	0	0	0.014758	0	5	87				
MYH4	4622	broad.mit.edu	37	17	10369629	10369629	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:10369629C>T	ENST00000255381.2	-	4	419	c.309G>A	c.(307-309)ctG>ctA	p.L103L	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	103	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.L103L(2)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGAGGTTATACAGCACAGCAG	0.458																																							uc002gmn.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.(307-309)CTG>CTA		myosin, heavy polypeptide 4, skeletal muscle							276.0	231.0	246.0					17																	10369629		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10369629C>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.309G>A	17.37:g.10369629C>T						uc002gml.1_Intron	p.L103L	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			4	420	-			103			Myosin head-like.			Silent	SNP	ENST00000255381.2	37	c.309G>A	CCDS11154.1																																																																																				0.458	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		50	73	0	0	0	0.01441	0	50	73				
MYH3	4621	broad.mit.edu	37	17	10535936	10535936	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:10535936C>A	ENST00000583535.1	-	34	4900	c.4813G>T	c.(4813-4815)Gag>Tag	p.E1605*	MYH3_ENST00000226209.7_Nonsense_Mutation_p.E1605*	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1605					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTCCGCACCTCGGCGTCCAGG	0.557																																							uc002gmq.1		NA																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(4813-4815)GAG>TAG		myosin, heavy chain 3, skeletal muscle,							248.0	242.0	244.0					17																	10535936		2203	4300	6503	SO:0001587	stop_gained	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10535936C>A		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.4813G>T	17.37:g.10535936C>A	ENSP00000464317:p.Glu1605*						p.E1605*	NM_002470	NP_002461	P11055	MYH3_HUMAN			33	4890	-			1605			Potential.		Q15492	Nonsense_Mutation	SNP	ENST00000583535.1	37	c.4813G>T	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	45	11.967972	0.99622	.	.	ENSG00000109063	ENST00000226209	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	.	.	.	X	1605	.	ENSP00000226209:E1605X	E	-	1	0	MYH3	10476661	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	7.807000	0.86032	2.885000	0.99019	0.655000	0.94253	GAG		0.557	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		10	517	1	0	1.61879e-10	0.013537	1.87742e-10	10	517				
KCNJ12	3768	broad.mit.edu	37	17	21318672	21318672	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:21318672G>T	ENST00000583088.1	+	3	913	c.18G>T	c.(16-18)cgG>cgT	p.R6R	KCNJ12_ENST00000331718.5_Silent_p.R6R	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	6			R -> Q (in dbSNP:rs3752032).		muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CGGCCAGCCGGGCCAACCCCT	0.697										Prostate(3;0.18)																													uc002gyv.1		NA																	0				ovary(3)|skin(1)	4						c.(16-18)CGG>CGT		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)						41.0	40.0	40.0					17																	21318672		2202	4299	6501	SO:0001819	synonymous_variant	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21318672G>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.18G>T	17.37:g.21318672G>T		Prostate(3;0.18)					p.R6R	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	723	+			6			Cytoplasmic (By similarity).		O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	c.18G>T	CCDS11219.1																																																																																				0.697	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		4	40	1	0	1.23904e-05	0.014758	1.32887e-05	4	40				
NF1	4763	broad.mit.edu	37	17	29657349	29657349	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:29657349G>A	ENST00000358273.4	+	39	6028	c.5645G>A	c.(5644-5646)tGt>tAt	p.C1882Y	NF1_ENST00000356175.3_Missense_Mutation_p.C1861Y|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1882					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.C1882Y(4)|p.?(3)|p.C1882F(1)	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)		GCCTTAACTTGTACCTTTAAT	0.353			"""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		16	Whole gene deletion(8)|Substitution - Missense(5)|Unknown(3)	p.C1882F(1)	soft_tissue(7)|lung(6)|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						c.(5644-5646)TGT>TAT		neurofibromin isoform 1							96.0	93.0	94.0					17																	29657349		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.chr17:29657349G>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.5645G>A	17.37:g.29657349G>A	ENSP00000351015:p.Cys1882Tyr	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Missense_Mutation_p.C1861Y|NF1_uc002hgi.1_Missense_Mutation_p.C894Y|NF1_uc010cso.2_Missense_Mutation_p.C70Y	p.C1882Y	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	5978	+		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)	1882					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.5645G>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100086	0.76983	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.32023	1.47;1.47;1.47	5.6	5.6	0.85130	Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	T	0.36908	0.0984	N	0.08118	0	0.80722	D	1	P;D;P	0.60575	0.475;0.988;0.741	B;D;B	0.77004	0.022;0.989;0.127	T	0.38908	-0.9639	10	0.33141	T	0.24	.	18.6083	0.91275	0.0:0.0:1.0:0.0	.	911;1861;1882	Q59FX3;P21359-2;P21359	.;.;NF1_HUMAN	Y	1882;1861;1527	ENSP00000351015:C1882Y;ENSP00000348498:C1861Y;ENSP00000389907:C1527Y	ENSP00000348498:C1861Y	C	+	2	0	NF1	26681475	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.434000	0.97515	2.627000	0.88993	0.650000	0.86243	TGT		0.353	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		49	78	0	0	0	0.01441	0	49	78				
LRRC37B	114659	broad.mit.edu	37	17	30349570	30349570	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:30349570A>G	ENST00000341671.7	+	1	1410	c.1405A>G	c.(1405-1407)Aag>Gag	p.K469E	LRRC37B_ENST00000394713.3_Missense_Mutation_p.K469E|LRRC37B_ENST00000327564.7_Missense_Mutation_p.K496E|LRRC37B_ENST00000543378.2_Missense_Mutation_p.K387E|LRRC37B_ENST00000584368.1_Missense_Mutation_p.K481E|LRRC37B_ENST00000581786.1_3'UTR	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	469				K -> E (in Ref. 2; AAR28082). {ECO:0000305}.		cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.K469E(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				AGCCCTGGAGAAGACTAGAGC	0.527																																							uc002hgu.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1405-1407)AAG>GAG		leucine rich repeat containing 37B precursor							75.0	82.0	79.0					17																	30349570		2203	4300	6503	SO:0001583	missense	114659					integral to membrane		g.chr17:30349570A>G	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.1405A>G	17.37:g.30349570A>G	ENSP00000340519:p.Lys469Glu					LRRC37B_uc010wbx.1_Missense_Mutation_p.K387E|LRRC37B_uc010csu.2_Missense_Mutation_p.K469E	p.K469E	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN			1	1416	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	469	K -> E (in Ref. 2; AAR28082).		Extracellular (Potential).		Q17RC9|Q5YKG6	Missense_Mutation	SNP	ENST00000341671.7	37	c.1405A>G	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	N	1.889	-0.455977	0.04540	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	T;T;T;T	0.65364	-0.06;-0.15;0.99;-0.13	0.698	0.698	0.18087	.	.	.	.	.	T	0.43700	0.1259	L	0.37850	1.14	0.09310	N	1	B;B	0.28850	0.007;0.225	B;B	0.17433	0.006;0.018	T	0.18209	-1.0344	8	0.18276	T	0.48	.	.	.	.	.	469;469	Q17RC9;Q96QE4	.;LR37B_HUMAN	E	387;496;469;469	ENSP00000443345:K387E;ENSP00000332536:K496E;ENSP00000378202:K469E;ENSP00000340519:K469E	ENSP00000332536:K496E	K	+	1	0	LRRC37B	27373683	0.000000	0.05858	0.003000	0.11579	0.032000	0.12392	-1.972000	0.01502	0.551000	0.29008	0.156000	0.16432	AAG		0.527	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		55	114	0	0	0	0.01441	0	55	114				
MED1	5469	broad.mit.edu	37	17	37565297	37565297	+	Silent	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:37565297G>C	ENST00000300651.6	-	17	3400	c.3177C>G	c.(3175-3177)ccC>ccG	p.P1059P	CTB-131K11.1_ENST00000582842.1_RNA|MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.P1059P(2)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TTTTGGGAATGGGTGGTGTGG	0.507										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	Pancreas(21;279 768 2492 4877 24026)	uc002hrv.3		NA																	2	Substitution - coding silent(2)		lung(2)	lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8						c.(3175-3177)CCC>CCG		mediator complex subunit 1							109.0	106.0	107.0					17																	37565297		2203	4300	6503	SO:0001819	synonymous_variant	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37565297G>C	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.3177C>G	17.37:g.37565297G>C		HNSCC(31;0.082)				MED1_uc010wee.1_Silent_p.P887P|MED1_uc002hru.2_Intron	p.P1059P	NM_004774	NP_004765	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	3389	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1059			Interaction with ESR1.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Silent	SNP	ENST00000300651.6	37	c.3177C>G	CCDS11336.1																																																																																				0.507	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		306	187	0	0	0	0.01441	0	306	187				
ZPBP2	124626	broad.mit.edu	37	17	38031516	38031516	+	Nonsense_Mutation	SNP	C	C	T	rs373121425		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:38031516C>T	ENST00000348931.4	+	7	909	c.718C>T	c.(718-720)Cga>Tga	p.R240*	ZPBP2_ENST00000584588.1_Nonsense_Mutation_p.R167*|ZPBP2_ENST00000377940.3_Nonsense_Mutation_p.R218*	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	240					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)		p.R240*(2)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGCAAGAGATCGAATAGAAGA	0.358																																							uc002hte.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(718-720)CGA>TGA		zona pellucida binding protein 2 isoform 2							75.0	75.0	75.0					17																	38031516		2203	4299	6502	SO:0001587	stop_gained	124626				binding of sperm to zona pellucida	extracellular region		g.chr17:38031516C>T	BC043152	CCDS11352.1, CCDS11353.2	17q21.1	2013-01-11			ENSG00000186075	ENSG00000186075		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	20678	protein-coding gene	gene with protein product		608499					Standard	XM_005257031		Approved	ZPBPL, MGC41930	uc002hte.3	Q6X784	OTTHUMG00000133022	ENST00000348931.4:c.718C>T	17.37:g.38031516C>T	ENSP00000335384:p.Arg240*					ZPBP2_uc002htf.2_Nonsense_Mutation_p.R218*	p.R240*	NM_199321	NP_955353	Q6X784	ZPBP2_HUMAN	Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)		7	871	+	Colorectal(19;0.000442)		240					A8K8L8|Q6X783|Q86XL5	Nonsense_Mutation	SNP	ENST00000348931.4	37	c.718C>T	CCDS11352.1	.	.	.	.	.	.	.	.	.	.	C	32	5.139407	0.94560	.	.	ENSG00000186075	ENST00000348931;ENST00000377940	.	.	.	5.55	5.55	0.83447	.	0.112663	0.39615	N	0.001305	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-9.2186	17.2826	0.87132	0.0:1.0:0.0:0.0	.	.	.	.	X	240;218	.	ENSP00000335384:R240X	R	+	1	2	ZPBP2	35285042	0.998000	0.40836	1.000000	0.80357	0.912000	0.54170	2.982000	0.49337	2.609000	0.88269	0.460000	0.39030	CGA		0.358	ZPBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256609.2	NM_198844		16	162	0	0	0	0.00499	0	16	162				
ZPBP2	124626	broad.mit.edu	37	17	38031554	38031554	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:38031554C>T	ENST00000348931.4	+	7	947	c.756C>T	c.(754-756)ttC>ttT	p.F252F	ZPBP2_ENST00000584588.1_Silent_p.F179F|ZPBP2_ENST00000377940.3_Silent_p.F230F	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	252					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)		p.F252F(2)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			CATATATTTTCTACCATAACT	0.373																																							uc002hte.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(754-756)TTC>TTT		zona pellucida binding protein 2 isoform 2							84.0	83.0	84.0					17																	38031554		2203	4300	6503	SO:0001819	synonymous_variant	124626				binding of sperm to zona pellucida	extracellular region		g.chr17:38031554C>T	BC043152	CCDS11352.1, CCDS11353.2	17q21.1	2013-01-11			ENSG00000186075	ENSG00000186075		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	20678	protein-coding gene	gene with protein product		608499					Standard	XM_005257031		Approved	ZPBPL, MGC41930	uc002hte.3	Q6X784	OTTHUMG00000133022	ENST00000348931.4:c.756C>T	17.37:g.38031554C>T						ZPBP2_uc002htf.2_Silent_p.F230F	p.F252F	NM_199321	NP_955353	Q6X784	ZPBP2_HUMAN	Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)		7	909	+	Colorectal(19;0.000442)		252					A8K8L8|Q6X783|Q86XL5	Silent	SNP	ENST00000348931.4	37	c.756C>T	CCDS11352.1																																																																																				0.373	ZPBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256609.2	NM_198844		20	160	0	0	0	0.008871	0	20	160				
TOP2A	7153	broad.mit.edu	37	17	38545891	38545891	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:38545891C>T	ENST00000423485.1	-	35	4634	c.4476G>A	c.(4474-4476)aaG>aaA	p.K1492K	Y_RNA_ENST00000410949.1_RNA	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1492					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CACTCTCCCCCTTGGATTTCT	0.398																																							uc002huq.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(4474-4476)AAG>AAA		DNA topoisomerase II, alpha isozyme	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)																																			SO:0001819	synonymous_variant	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38545891C>T		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.4476G>A	17.37:g.38545891C>T							p.K1492K	NM_001067	NP_001058	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		35	4602	-		Breast(137;0.00328)	1492					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Silent	SNP	ENST00000423485.1	37	c.4476G>A	CCDS45672.1																																																																																				0.398	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			3	38	0	0	0	0.009096	0	3	38				
TOP2A	7153	broad.mit.edu	37	17	38546301	38546301	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:38546301C>T	ENST00000423485.1	-	34	4541	c.4383G>A	c.(4381-4383)aaG>aaA	p.K1461K	Y_RNA_ENST00000410949.1_RNA	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1461					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TGCGGCGATTCTTGGTTTTGG	0.448																																							uc002huq.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(4381-4383)AAG>AAA		DNA topoisomerase II, alpha isozyme	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)						75.0	69.0	71.0					17																	38546301		1886	4108	5994	SO:0001819	synonymous_variant	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38546301C>T		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.4383G>A	17.37:g.38546301C>T							p.K1461K	NM_001067	NP_001058	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		34	4509	-		Breast(137;0.00328)	1461					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Silent	SNP	ENST00000423485.1	37	c.4383G>A	CCDS45672.1																																																																																				0.448	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			5	63	0	0	0	0.014758	0	5	63				
TUBG2	27175	broad.mit.edu	37	17	40818442	40818442	+	Silent	SNP	C	C	T	rs535157594		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:40818442C>T	ENST00000251412.7	+	10	1297	c.1098C>T	c.(1096-1098)taC>taT	p.Y366Y	PLEKHH3_ENST00000456950.2_5'Flank	NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	366					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|pericentriolar material (GO:0000242)|spindle microtubule (GO:0005876)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)	p.Y366Y(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		AGTCTCCCTACCTGCCCTCGG	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		19035	0.0		0.0	False		,,,				2504	0.001						uc010wgr.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1096-1098)TAC>TAT		tubulin, gamma 2							70.0	72.0	71.0					17																	40818442		2203	4296	6499	SO:0001819	synonymous_variant	27175				G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity	g.chr17:40818442C>T	AF225971	CCDS32658.1	17q21.2	2014-09-04			ENSG00000037042	ENSG00000037042		"""Tubulins"""	12419	protein-coding gene	gene with protein product		605785					Standard	NM_016437		Approved		uc010wgr.2	Q9NRH3	OTTHUMG00000180640	ENST00000251412.7:c.1098C>T	17.37:g.40818442C>T						TUBG2_uc002iaq.2_Silent_p.Y208Y|TUBG2_uc002iar.2_Silent_p.Y213Y|TUBG2_uc002ias.2_Silent_p.Y208Y|TUBG2_uc002iap.2_Silent_p.Y213Y	p.Y366Y	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.141)	10	1354	+		Breast(137;0.00116)	366					A6NDI4|Q32NB2	Silent	SNP	ENST00000251412.7	37	c.1098C>T	CCDS32658.1																																																																																				0.602	TUBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452326.1	NM_016437		28	230	0	0	0	0.007291	0	28	230				
AOC2	314	broad.mit.edu	37	17	40996773	40996773	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:40996773G>A	ENST00000253799.3	+	1	157	c.130G>A	c.(130-132)Gcc>Acc	p.A44T	AOC2_ENST00000452774.2_Missense_Mutation_p.A44T	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	44					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)	p.A44T(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		ATCCCATAGGGCCCAGCCCTG	0.627																																							uc002ibu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(130-132)GCC>ACC		amine oxidase, copper containing 2 isoform b							136.0	145.0	142.0					17																	40996773		2203	4300	6503	SO:0001583	missense	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:40996773G>A	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.130G>A	17.37:g.40996773G>A	ENSP00000253799:p.Ala44Thr					AOC2_uc002ibt.2_Missense_Mutation_p.A44T	p.A44T	NM_009590	NP_033720	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	165	+		Breast(137;0.000143)	44					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	ENST00000253799.3	37	c.130G>A	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	G	6.850	0.526186	0.13066	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.29397	1.57;1.57	4.7	0.136	0.14780	Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);	0.827515	0.11068	N	0.603291	T	0.11623	0.0283	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.12837	0.003;0.008	T	0.27571	-1.0070	10	0.25106	T	0.35	-22.5721	0.5301	0.00627	0.3948:0.1806:0.2413:0.1832	.	44;44	O75106;O75106-2	AOC2_HUMAN;.	T	44	ENSP00000253799:A44T;ENSP00000406134:A44T	ENSP00000253799:A44T	A	+	1	0	AOC2	38250299	0.035000	0.19736	0.221000	0.23827	0.415000	0.31203	0.361000	0.20267	0.203000	0.20529	-0.165000	0.13383	GCC		0.627	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		63	485	0	0	0	0.01441	0	63	485				
PPY	5539	broad.mit.edu	37	17	42018943	42018943	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:42018943G>A	ENST00000591228.1	-	2	167	c.80C>T	c.(79-81)gCc>gTc	p.A27V	PPY_ENST00000587006.1_Missense_Mutation_p.A27V|PPY_ENST00000225992.3_Missense_Mutation_p.A27V			P01298	PAHO_HUMAN	pancreatic polypeptide	27					digestion (GO:0007586)|protein secretion (GO:0009306)	extracellular region (GO:0005576)	hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.A27V(1)		large_intestine(2)|lung(1)|skin(1)	4		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GGCTCCCTGGGCACCCAGCAG	0.612																																							uc002iep.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(79-81)GCC>GTC		pancreatic polypeptide preproprotein							84.0	79.0	81.0					17																	42018943		2203	4300	6503	SO:0001583	missense	5539				digestion|protein secretion	extracellular region	hormone activity	g.chr17:42018943G>A		CCDS11472.1	17q21.31	2013-02-28			ENSG00000108849	ENSG00000108849		"""Endogenous ligands"""	9327	protein-coding gene	gene with protein product	"""pancreatic polypeptide Y"", ""prepro-PP (prepropancreatic polypeptide)"""	167780				3753985	Standard	NM_002722		Approved	PNP	uc002iep.3	P01298		ENST00000591228.1:c.80C>T	17.37:g.42018943G>A	ENSP00000466009:p.Ala27Val						p.A27V	NM_002722	NP_002713	P01298	PAHO_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	2	125	-		Breast(137;0.00314)|Prostate(33;0.0724)	27						Missense_Mutation	SNP	ENST00000591228.1	37	c.80C>T	CCDS11472.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141837	0.37825	.	.	ENSG00000108849	ENST00000225992	T	0.25414	1.8	4.47	2.44	0.29823	.	0.217688	0.37669	N	0.001993	T	0.14141	0.0342	.	.	.	0.09310	N	1	B	0.34103	0.437	B	0.20955	0.032	T	0.18871	-1.0323	9	0.87932	D	0	-0.3675	5.4919	0.16781	0.1029:0.0:0.7004:0.1967	.	27	P01298	PAHO_HUMAN	V	27	ENSP00000225992:A27V	ENSP00000225992:A27V	A	-	2	0	PPY	39374469	0.055000	0.20627	0.023000	0.16930	0.929000	0.56500	1.328000	0.33758	0.604000	0.29930	0.561000	0.74099	GCC		0.612	PPY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457656.1	NM_002722		13	69	0	0	0	0.020292	0	13	69				
UBTF	7343	broad.mit.edu	37	17	42286812	42286812	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:42286812G>A	ENST00000302904.4	-	17	2305	c.1813C>T	c.(1813-1815)Cag>Tag	p.Q605*	UBTF_ENST00000526094.1_Nonsense_Mutation_p.Q568*|UBTF_ENST00000527034.1_Nonsense_Mutation_p.Q568*|UBTF_ENST00000529383.1_Nonsense_Mutation_p.Q605*|UBTF_ENST00000533177.1_Nonsense_Mutation_p.Q568*|UBTF_ENST00000436088.1_Nonsense_Mutation_p.Q605*|UBTF_ENST00000343638.5_Nonsense_Mutation_p.Q568*|UBTF_ENST00000393606.3_Nonsense_Mutation_p.Q568*|CTB-175E5.7_ENST00000586560.1_RNA			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	605					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.Q605*(2)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GAGATGCGCTGCCAGCGACTG	0.587																																							uc002igb.2		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(1813-1815)CAG>TAG		upstream binding transcription factor, RNA							76.0	65.0	69.0					17																	42286812		2203	4300	6503	SO:0001587	stop_gained	7343				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	g.chr17:42286812G>A	BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.1813C>T	17.37:g.42286812G>A	ENSP00000302640:p.Gln605*					UBTF_uc002igc.2_Nonsense_Mutation_p.Q568*|UBTF_uc010czs.2_Nonsense_Mutation_p.Q605*|UBTF_uc002igd.2_Nonsense_Mutation_p.Q568*|UBTF_uc010czt.2_Nonsense_Mutation_p.Q605*|UBTF_uc002ige.2_Nonsense_Mutation_p.Q568*	p.Q605*	NM_014233	NP_055048	P17480	UBF1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	16	1880	-		Breast(137;0.00765)|Prostate(33;0.0181)	605			HMG box 6.		A8K6R8	Nonsense_Mutation	SNP	ENST00000302904.4	37	c.1813C>T	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	G	32	5.109879	0.94292	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383;ENST00000529373	.	.	.	5.16	5.16	0.70880	.	0.123452	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-24.2525	18.2838	0.90107	0.0:0.0:1.0:0.0	.	.	.	.	X	568;605;568;568;605;568;568;605;192	.	ENSP00000302640:Q605X	Q	-	1	0	UBTF	39642338	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	9.522000	0.98032	2.409000	0.81822	0.462000	0.41574	CAG		0.587	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		22	63	0	0	0	0.016522	0	22	63				
ACBD4	79777	broad.mit.edu	37	17	43215142	43215142	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:43215142G>A	ENST00000376955.4	+	7	815	c.518G>A	c.(517-519)aGg>aAg	p.R173K	ACBD4_ENST00000586346.1_Missense_Mutation_p.G186R|ACBD4_ENST00000321854.8_Missense_Mutation_p.R173K|ACBD4_ENST00000591136.1_3'UTR|ACBD4_ENST00000591859.1_Missense_Mutation_p.G186R|ACBD4_ENST00000592162.1_Missense_Mutation_p.R173K|ACBD4_ENST00000431281.1_Missense_Mutation_p.G186R|ACBD4_ENST00000398322.3_Missense_Mutation_p.R173K	NM_001135707.1	NP_001129179.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	173							fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)	p.R173K(2)|p.G186R(2)		kidney(1)|lung(3)|ovary(1)	5						CATTCACCCAGGGACCTGGAC	0.597																																							uc002iid.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)|kidney(1)	2						c.(517-519)AGG>AAG		acyl-Coenzyme A binding domain containing 4							112.0	121.0	118.0					17																	43215142		2037	4190	6227	SO:0001583	missense	79777						fatty-acyl-CoA binding	g.chr17:43215142G>A	BC029164	CCDS42348.1, CCDS45710.1, CCDS45711.1	17q21.31	2012-10-02	2010-04-30		ENSG00000181513	ENSG00000181513			23337	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 4"""				Standard	NM_001135704		Approved	FLJ13322	uc002iie.3	Q8NC06	OTTHUMG00000180111	ENST00000376955.4:c.518G>A	17.37:g.43215142G>A	ENSP00000366154:p.Arg173Lys					ACBD4_uc010wjj.1_Missense_Mutation_p.G186R|ACBD4_uc002iie.2_Missense_Mutation_p.G186R|ACBD4_uc002iif.2_Missense_Mutation_p.R173K|ACBD4_uc002iic.2_Missense_Mutation_p.R173K|ACBD4_uc010dae.2_Missense_Mutation_p.G108R	p.R173K	NM_001135707	NP_001129179	Q8NC06	ACBD4_HUMAN			7	862	+			173					D3DX64|Q8IUT1|Q9H8Q4	Missense_Mutation	SNP	ENST00000376955.4	37	c.518G>A	CCDS45711.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.44|11.44	1.638166|1.638166	0.29157|0.29157	.|.	.|.	ENSG00000181513|ENSG00000181513	ENST00000431281;ENST00000321854|ENST00000398322;ENST00000376955	T|T;T	0.20881|0.14640	2.04|2.78;2.49	4.71|4.71	2.66|2.66	0.31614|0.31614	.|.	2.364680|.	0.01509|.	N|.	0.017858|.	T|T	0.13372|0.13372	0.0324|0.0324	M|M	0.63428|0.63428	1.95|1.95	0.09310|0.09310	N|N	1|1	B|B;P	0.24368|0.37663	0.102|0.189;0.604	B|B;B	0.21917|0.37550	0.037|0.024;0.253	T|T	0.20638|0.20638	-1.0269|-1.0269	10|9	0.20046|0.15066	T|T	0.44|0.55	.|.	6.8795|6.8795	0.24164|0.24164	0.0948:0.0:0.7304:0.1748|0.0948:0.0:0.7304:0.1748	.|.	186|173;173	Q8NC06-3|Q8NC06;Q8NC06-2	.|ACBD4_HUMAN;.	R|K	186|173	ENSP00000405969:G186R|ENSP00000381367:R173K;ENSP00000366154:R173K	ENSP00000314440:G186R|ENSP00000366154:R173K	G|R	+|+	1|2	0|0	ACBD4|ACBD4	40570668|40570668	0.921000|0.921000	0.31238|0.31238	0.019000|0.019000	0.16419|0.16419	0.160000|0.160000	0.22226|0.22226	1.120000|1.120000	0.31271|0.31271	0.383000|0.383000	0.24910|0.24910	0.555000|0.555000	0.69702|0.69702	GGG|AGG		0.597	ACBD4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000449816.1	NM_024722		115	336	0	0	0	0.01441	0	115	336				
KANSL1	284058	broad.mit.edu	37	17	44249381	44249381	+	Silent	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:44249381A>C	ENST00000262419.6	-	2	599	c.129T>G	c.(127-129)ctT>ctG	p.L43L	KANSL1_ENST00000576248.1_5'Flank|KANSL1_ENST00000572904.1_Silent_p.L43L|KANSL1_ENST00000575318.1_Silent_p.L43L|KANSL1_ENST00000432791.1_Silent_p.L43L|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Silent_p.L43L	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	43					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TGGCAGCAATAAGGATGTTGG	0.512																																							uc002ikb.2		NA																	0				skin(2)	2						c.(127-129)CTT>CTG		hypothetical protein LOC284058							131.0	157.0	149.0					17																	44249381		2203	4300	6503	SO:0001819	synonymous_variant	284058					MLL1 complex	protein binding	g.chr17:44249381A>C	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.129T>G	17.37:g.44249381A>C						KIAA1267_uc002ikc.2_Silent_p.L43L|KIAA1267_uc002ikd.2_Silent_p.L43L|KIAA1267_uc010dav.2_Silent_p.L43L	p.L43L	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN			1	214	-		Melanoma(429;0.211)	43					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Silent	SNP	ENST00000262419.6	37	c.129T>G	CCDS11503.1																																																																																				0.512	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		4	468	0	0	0	0.014758	0	4	468				
NSF	4905	broad.mit.edu	37	17	44782158	44782158	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:44782158G>A	ENST00000398238.4	+	13	1515	c.1408G>A	c.(1408-1410)Gca>Aca	p.A470T	NSF_ENST00000575068.1_Missense_Mutation_p.A465T|NSF_ENST00000225282.8_Missense_Mutation_p.A376T	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	470					exocytosis (GO:0006887)|plasma membrane fusion (GO:0045026)|positive regulation of receptor recycling (GO:0001921)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|syntaxin-1 binding (GO:0017075)	p.A470T(2)		kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		CATGGAGAAAGCAGAAAGCCT	0.378																																					Ovarian(25;472 742 1472 36813 50223)	Ovarian(25;472 742 1472 36813 50223)	uc002iku.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1408-1410)GCA>ACA		vesicle-fusing ATPase							116.0	129.0	125.0					17																	44782158		1874	4114	5988	SO:0001583	missense	4905				protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding	g.chr17:44782158G>A		CCDS42354.1	17q21	2010-04-21			ENSG00000073969	ENSG00000073969		"""ATPases / AAA-type"""	8016	protein-coding gene	gene with protein product	"""N-ethylmaleimide-sensitive factor-like protein"""	601633				1315316, 8875895	Standard	NM_006178		Approved	SKD2	uc002iku.3	P46459	OTTHUMG00000134315	ENST00000398238.4:c.1408G>A	17.37:g.44782158G>A	ENSP00000381293:p.Ala470Thr					NSF_uc010wke.1_Missense_Mutation_p.A376T|NSF_uc010wkf.1_Missense_Mutation_p.A376T|NSF_uc010wkg.1_Missense_Mutation_p.A465T	p.A470T	NM_006178	NP_006169	P46459	NSF_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)	13	1512	+		Melanoma(429;0.203)	470					A8K2D9|B4DFA2|Q8N6D7|Q9UKZ2	Missense_Mutation	SNP	ENST00000398238.4	37	c.1408G>A	CCDS42354.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965642	0.74131	.	.	ENSG00000073969	ENST00000398238;ENST00000225282	T;T	0.47177	0.85;0.85	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.44201	0.1282	L	0.58969	1.84	0.80722	D	1	P	0.39022	0.655	B	0.32533	0.147	T	0.43686	-0.9376	10	0.30854	T	0.27	-8.8229	18.5628	0.91107	0.0:0.0:1.0:0.0	.	470	P46459	NSF_HUMAN	T	470;376	ENSP00000381293:A470T;ENSP00000225282:A376T	ENSP00000225282:A376T	A	+	1	0	NSF	42137340	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.568000	0.98166	2.451000	0.82905	0.467000	0.42956	GCA		0.378	NSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259348.2	NM_006178		17	138	0	0	0	0.010504	0	17	138				
HOXB1	3211	broad.mit.edu	37	17	46607116	46607116	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:46607116C>A	ENST00000239174.6	-	2	791	c.699G>T	c.(697-699)agG>agT	p.R233S	HOXB1_ENST00000577092.1_3'UTR	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	233					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)	p.R233S(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAATCTCCACCCTCCGGGCCC	0.567																																							uc002ink.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(697-699)AGG>AGT		homeobox B1							144.0	151.0	149.0					17																	46607116		2203	4300	6503	SO:0001583	missense	3211					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr17:46607116C>A		CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"""Homeoboxes / ANTP class : HOXL subclass"""	5111	protein-coding gene	gene with protein product		142968	"""homeo box B1"""	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.699G>T	17.37:g.46607116C>A	ENSP00000355140:p.Arg233Ser						p.R233S	NM_002144	NP_002135	P14653	HXB1_HUMAN			2	705	-			233			Homeobox.		Q4VB03	Missense_Mutation	SNP	ENST00000239174.6	37	c.699G>T	CCDS32675.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980409	0.74474	.	.	ENSG00000120094	ENST00000239174	D	0.97430	-4.38	5.3	5.3	0.74995	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.53938	D	0.000048	D	0.99111	0.9694	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98559	1.0640	10	0.87932	D	0	.	12.1234	0.53903	0.0:0.9216:0.0:0.0783	.	233	P14653	HXB1_HUMAN	S	233	ENSP00000355140:R233S	ENSP00000355140:R233S	R	-	3	2	HOXB1	43962115	0.983000	0.35010	1.000000	0.80357	0.996000	0.88848	0.150000	0.16263	2.769000	0.95229	0.655000	0.94253	AGG		0.567	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3			49	298	1	0	6.03219e-31	0.01441	8.12584e-31	49	298				
DLX3	1747	broad.mit.edu	37	17	48072147	48072147	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:48072147A>T	ENST00000434704.2	-	1	441	c.216T>A	c.(214-216)aaT>aaA	p.N72K	DLX3_ENST00000512495.2_5'Flank|RP11-1094H24.3_ENST00000511867.1_lincRNA	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	72					blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N72K(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						CTGCAAGCCCATTGAGATTGA	0.612																																							uc002ipy.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(214-216)AAT>AAA		distal-less homeobox 3							100.0	104.0	103.0					17																	48072147		2203	4300	6503	SO:0001583	missense	1747					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:48072147A>T		CCDS11556.1	17q21.33	2011-06-20	2005-12-22			ENSG00000064195		"""Homeoboxes / ANTP class : NKL subclass"""	2916	protein-coding gene	gene with protein product		600525	"""distal-less homeo box 3"""			7613049	Standard	NM_005220		Approved		uc002ipy.3	O60479		ENST00000434704.2:c.216T>A	17.37:g.48072147A>T	ENSP00000389870:p.Asn72Lys						p.N72K	NM_005220	NP_005211	O60479	DLX3_HUMAN			1	442	-			72					B3KQL6	Missense_Mutation	SNP	ENST00000434704.2	37	c.216T>A	CCDS11556.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.274774	0.80580	.	.	ENSG00000064195	ENST00000434704	D	0.91068	-2.78	5.01	-1.35	0.09114	.	0.128689	0.49916	D	0.000138	D	0.92031	0.7475	M	0.81341	2.54	0.80722	D	1	P	0.51933	0.949	P	0.55667	0.781	D	0.89626	0.3852	10	0.54805	T	0.06	-33.6018	9.0324	0.36267	0.7054:0.0:0.2946:0.0	.	72	O60479	DLX3_HUMAN	K	72	ENSP00000389870:N72K	ENSP00000389870:N72K	N	-	3	2	DLX3	45427146	0.999000	0.42202	0.998000	0.56505	0.995000	0.86356	0.536000	0.23129	-0.057000	0.13199	0.402000	0.26972	AAT		0.612	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366307.1			48	106	0	0	0	0.01441	0	48	106				
ANKFN1	162282	broad.mit.edu	37	17	54403587	54403587	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:54403587G>A	ENST00000318698.2	+	3	103	c.68G>A	c.(67-69)gGa>gAa	p.G23E	ANKFN1_ENST00000566473.2_Missense_Mutation_p.G23E	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	23								p.G23E(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CACAGAATAGGAAGGAGATTC	0.398																																							uc002iun.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(67-69)GGA>GAA		ankyrin-repeat and fibronectin type III domain							136.0	135.0	135.0					17																	54403587		2203	4300	6503	SO:0001583	missense	162282							g.chr17:54403587G>A	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.68G>A	17.37:g.54403587G>A	ENSP00000321627:p.Gly23Glu						p.G23E	NM_153228	NP_694960	Q8N957	ANKF1_HUMAN			3	103	+			23						Missense_Mutation	SNP	ENST00000318698.2	37	c.68G>A	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822517	0.71028	.	.	ENSG00000153930	ENST00000318698	T	0.24908	1.83	5.98	5.98	0.97165	.	0.258092	0.34156	N	0.004220	T	0.25901	0.0631	L	0.36672	1.1	0.35100	D	0.765135	P	0.50443	0.935	B	0.42245	0.381	T	0.24977	-1.0145	10	0.72032	D	0.01	-11.7123	17.608	0.88044	0.0:0.0:1.0:0.0	.	23	Q8N957	ANKF1_HUMAN	E	23	ENSP00000321627:G23E	ENSP00000321627:G23E	G	+	2	0	ANKFN1	51758586	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	1.881000	0.39638	2.838000	0.97847	0.591000	0.81541	GGA		0.398	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		85	108	0	0	0	0.01441	0	85	108				
HEATR6	63897	broad.mit.edu	37	17	58134604	58134604	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:58134604C>T	ENST00000184956.6	-	12	1900	c.1884G>A	c.(1882-1884)aaG>aaA	p.K628K	HEATR6_ENST00000585976.1_Silent_p.K628K	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	628							poly(A) RNA binding (GO:0044822)	p.K628K(2)		NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CAGGGGCTTTCTTCCACCAAT	0.517																																							uc002iyk.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(1882-1884)AAG>AAA		HEAT repeat containing 6							105.0	98.0	100.0					17																	58134604		2203	4300	6503	SO:0001819	synonymous_variant	63897						binding	g.chr17:58134604C>T	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.1884G>A	17.37:g.58134604C>T						HEATR6_uc010ddk.1_Silent_p.K167K|HEATR6_uc010wos.1_Silent_p.K460K	p.K628K	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		12	1901	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		628					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Silent	SNP	ENST00000184956.6	37	c.1884G>A	CCDS11623.1																																																																																				0.517	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		41	248	0	0	0	0.00874	0	41	248				
ACE	1636	broad.mit.edu	37	17	61555354	61555354	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:61555354G>T	ENST00000290866.4	+	2	336	c.312G>T	c.(310-312)ctG>ctT	p.L104L	ACE_ENST00000538928.1_Silent_p.L104L|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Silent_p.L104L	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	104	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)	p.L104L(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCAAGGAGCTGTATGAACCGA	0.652																																							uc002jau.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(310-312)CTG>CTT		angiotensin I converting enzyme 1 isoform 1	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						37.0	33.0	34.0					17																	61555354		2203	4300	6503	SO:0001819	synonymous_variant	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61555354G>T	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.312G>T	17.37:g.61555354G>T						ACE_uc010wph.1_Silent_p.L104L|ACE_uc010wpi.1_Silent_p.L104L|ACE_uc010ddu.1_5'UTR	p.L104L	NM_000789	NP_000780	P12821	ACE_HUMAN			2	334	+			104			Extracellular (Potential).|Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Silent	SNP	ENST00000290866.4	37	c.312G>T	CCDS11637.1																																																																																				0.652	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			17	31	1	0	6.94344e-10	0.006122	7.97022e-10	17	31				
GH1	2688	broad.mit.edu	37	17	61995377	61995377	+	Splice_Site	SNP	G	G	T	rs201518977		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:61995377G>T	ENST00000323322.5	-	3	333	c.291C>A	c.(289-291)tcC>tcA	p.S97S	CSHL1_ENST00000392824.4_Intron|GH1_ENST00000342364.4_Intron|GH1_ENST00000351388.4_Intron|GH1_ENST00000458650.2_Splice_Site_p.S82S	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	97			S -> F (in IGHD1B; reduced ability to activate the JAK/STAT pathway). {ECO:0000269|PubMed:12655557}.		bone maturation (GO:0070977)|glucose transport (GO:0015758)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|growth hormone receptor binding (GO:0005131)|metal ion binding (GO:0046872)|prolactin receptor binding (GO:0005148)	p.S97S(2)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						ATCCACTCACGGATTTCTGTT	0.572																																							uc002jdj.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(289-291)TCC>TCA		growth hormone 1 isoform 1							124.0	127.0	126.0					17																	61995377		2203	4300	6503	SO:0001630	splice_region_variant	2688				glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding	g.chr17:61995377G>T	M13438	CCDS11653.1, CCDS11654.1, CCDS45760.1	17q22-q24	2014-01-30				ENSG00000259384		"""Endogenous ligands"""	4261	protein-coding gene	gene with protein product	"""pituitary growth hormone"", ""somatotropin"""	139250				6306568	Standard	XM_005257218		Approved	GH-N, GHN, GH, hGH-N	uc002jdj.3	P01241		ENST00000323322.5:c.291+1C>A	17.37:g.61995377G>T						GH1_uc002jdi.2_Silent_p.S82S|GH1_uc002jdk.2_Intron|GH1_uc002jdl.2_Intron|GH1_uc002jdm.2_Intron|GH1_uc002jdn.2_Silent_p.S97S	p.S97S	NM_000515	NP_000506	P01241	SOMA_HUMAN			3	353	-			97		S -> F (in IGHD1B; reduced ability to activate the JAK/STAT pathway).			A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Silent	SNP	ENST00000323322.5	37	c.291C>A	CCDS11653.1																																																																																				0.572	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417708.1	NM_000515	Silent	106	130	1	0	8.08851e-39	0.01441	1.11841e-38	106	130				
PRKCA	5578	broad.mit.edu	37	17	64800011	64800011	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:64800011C>A	ENST00000413366.3	+	17	1901	c.1875C>A	c.(1873-1875)aaC>aaA	p.N625K		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	625	AGC-kinase C-terminal.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|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 inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)	p.N625K(2)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	GAGCAGAGAACTTTGACAAGT	0.493																																							uc002jfp.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1)	9						c.(1873-1875)AAC>AAA		protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)						125.0	109.0	114.0					17																	64800011		2203	4300	6503	SO:0001583	missense	5578				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	g.chr17:64800011C>A		CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.1875C>A	17.37:g.64800011C>A	ENSP00000408695:p.Asn625Lys						p.N625K	NM_002737	NP_002728	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		17	1919	+			625			AGC-kinase C-terminal.		B5BU22|Q15137|Q32M72|Q96RE4	Missense_Mutation	SNP	ENST00000413366.3	37	c.1875C>A	CCDS11664.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040297	0.75732	.	.	ENSG00000154229	ENST00000413366	T	0.76186	-1.0	5.67	4.7	0.59300	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.90841	0.7123	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93802	0.7102	10	0.87932	D	0	.	14.5292	0.67912	0.0:0.93:0.0:0.07	.	625	P17252	KPCA_HUMAN	K	625	ENSP00000408695:N625K	ENSP00000408695:N625K	N	+	3	2	PRKCA	62230473	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	3.063000	0.49978	1.396000	0.46663	0.655000	0.94253	AAC		0.493	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			33	133	1	0	3.03874e-20	0.015359	3.92483e-20	33	133				
ABCA8	10351	broad.mit.edu	37	17	66891114	66891114	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:66891114C>A	ENST00000269080.2	-	20	2822	c.2685G>T	c.(2683-2685)caG>caT	p.Q895H	ABCA8_ENST00000586539.1_Missense_Mutation_p.Q935H|ABCA8_ENST00000430352.2_Missense_Mutation_p.Q935H	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	895					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.Q895H(2)|p.Q895Q(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AAGCTATGTTCTGGTGCTCCA	0.378																																							uc002jhp.2		NA																	3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(2)|breast(1)	ovary(2)|skin(1)	3						c.(2683-2685)CAG>CAT		ATP-binding cassette, sub-family A member 8							178.0	149.0	159.0					17																	66891114		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66891114C>A	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.2685G>T	17.37:g.66891114C>A	ENSP00000269080:p.Gln895His					ABCA8_uc002jhq.2_Missense_Mutation_p.Q935H|ABCA8_uc010wqq.1_Missense_Mutation_p.Q935H|ABCA8_uc010wqr.1_Missense_Mutation_p.Q874H|ABCA8_uc002jhr.2_Missense_Mutation_p.Q935H	p.Q895H	NM_007168	NP_009099	O94911	ABCA8_HUMAN			20	2864	-	Breast(10;4.56e-13)		895					A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.2685G>T	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086903	0.36855	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.86694	-2.15;-2.16	3.61	0.41	0.16387	.	0.000000	0.41294	D	0.000913	D	0.91828	0.7414	M	0.86864	2.845	0.33056	D	0.53335	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.999;0.987;0.998;0.999	D	0.89454	0.3732	10	0.48119	T	0.1	.	5.8463	0.18667	0.0:0.6366:0.0:0.3634	.	874;935;935;935;895	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	H	895;935;874	ENSP00000269080:Q895H;ENSP00000402814:Q935H	ENSP00000269080:Q895H	Q	-	3	2	ABCA8	64402709	0.907000	0.30839	0.899000	0.35326	0.447000	0.32167	-0.355000	0.07671	0.017000	0.15025	0.650000	0.86243	CAG		0.378	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		23	84	1	0	3.7963e-18	0.01892	4.80049e-18	23	84				
ABCA9	10350	broad.mit.edu	37	17	67031811	67031811	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:67031811C>T	ENST00000340001.4	-	7	1143	c.932G>A	c.(931-933)gGc>gAc	p.G311D	ABCA9_ENST00000370732.2_Missense_Mutation_p.G311D|ABCA9_ENST00000453985.2_Missense_Mutation_p.G311D	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	311					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.G311D(2)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CAAAGACAGGCCATAGAGGAG	0.383																																							uc002jhu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(931-933)GGC>GAC		ATP-binding cassette, sub-family A, member 9							67.0	62.0	64.0					17																	67031811		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67031811C>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.932G>A	17.37:g.67031811C>T	ENSP00000342216:p.Gly311Asp					ABCA9_uc010dez.2_Missense_Mutation_p.G311D	p.G311D	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			7	1075	-	Breast(10;1.47e-12)		311			Helical; (Potential).		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.932G>A	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203386	0.79127	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.89552	-2.53;-2.53	4.58	4.58	0.56647	.	0.000000	0.45606	D	0.000345	D	0.94761	0.8309	M	0.86651	2.83	0.50467	D	0.999879	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95333	0.8431	10	0.87932	D	0	.	14.5578	0.68113	0.0:1.0:0.0:0.0	.	311;311	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	D	311;294;311;306	ENSP00000342216:G311D;ENSP00000359767:G311D	ENSP00000342216:G311D	G	-	2	0	ABCA9	64543406	0.998000	0.40836	0.988000	0.46212	0.824000	0.46624	4.608000	0.61141	2.550000	0.86006	0.591000	0.81541	GGC		0.383	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		18	54	0	0	0	0.008871	0	18	54				
SDK2	54549	broad.mit.edu	37	17	71394318	71394318	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:71394318G>T	ENST00000392650.3	-	24	3210	c.3210C>A	c.(3208-3210)cgC>cgA	p.R1070R	SDK2_ENST00000388726.3_Silent_p.R1070R	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1070	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.R1070R(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CCTGGCGCATGCGGAAGCTGG	0.627																																							uc010dfm.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(3208-3210)CGC>CGA		sidekick 2							35.0	41.0	39.0					17																	71394318		2203	4300	6503	SO:0001819	synonymous_variant	54549				cell adhesion	integral to membrane		g.chr17:71394318G>T	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.3210C>A	17.37:g.71394318G>T						SDK2_uc002jjt.3_Silent_p.R229R|SDK2_uc010dfn.2_Silent_p.R749R	p.R1070R	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			24	3210	-			1070			Fibronectin type-III 5.|Extracellular (Potential).		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	c.3210C>A	CCDS45769.1																																																																																				0.627	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		10	76	1	0	3.07112e-06	0.010729	3.33023e-06	10	76				
CD300C	10871	broad.mit.edu	37	17	72540857	72540857	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:72540857C>T	ENST00000330793.1	-	2	651	c.291G>A	c.(289-291)ctG>ctA	p.L97L		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	97	Ig-like V-type.				cellular defense response (GO:0006968)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)	p.L97L(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						TGAGATTCTCCAGGGTCACTG	0.552																																					Esophageal Squamous(66;421 1121 20537 25337 27468)	Esophageal Squamous(66;421 1121 20537 25337 27468)	uc002jky.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(289-291)CTG>CTA		CD300C antigen precursor							189.0	149.0	162.0					17																	72540857		2203	4300	6503	SO:0001819	synonymous_variant	10871				cellular defense response	integral to plasma membrane	transmembrane receptor activity	g.chr17:72540857C>T	BC022279	CCDS11701.1	17q25.2	2014-05-15	2006-03-28		ENSG00000167850	ENSG00000167850		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19320	protein-coding gene	gene with protein product		606786	"""CD300c antigen"""			1349532, 10746781	Standard	NM_006678		Approved	CMRF35, LIR, CMRF-35A, CMRF35A, IGSF16	uc002jky.2	Q08708	OTTHUMG00000067608	ENST00000330793.1:c.291G>A	17.37:g.72540857C>T							p.L97L	NM_006678	NP_006669	Q08708	CLM6_HUMAN			2	652	-			97			Extracellular (Potential).|Ig-like V-type.			Silent	SNP	ENST00000330793.1	37	c.291G>A	CCDS11701.1																																																																																				0.552	CD300C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145084.1	NM_006678		45	111	0	0	0	0.009718	0	45	111				
OTOP2	92736	broad.mit.edu	37	17	72926822	72926822	+	Silent	SNP	G	G	A	rs150890021		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr17:72926822G>A	ENST00000580223.1	+	5	1122	c.1092G>A	c.(1090-1092)acG>acA	p.T364T	OTOP2_ENST00000331427.4_Silent_p.T364T			Q7RTS6	OTOP2_HUMAN	otopetrin 2	364						integral component of membrane (GO:0016021)		p.T364T(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					AGAACCCCACGCGCACTCTGG	0.617																																							uc010wrp.1		NA																	2	Substitution - coding silent(2)	p.T364A(1)	lung(2)	ovary(3)|large_intestine(1)	4						c.(1090-1092)ACG>ACA		otopetrin 2							67.0	62.0	64.0					17																	72926822		2203	4300	6503	SO:0001819	synonymous_variant	92736					integral to membrane		g.chr17:72926822G>A	BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.1092G>A	17.37:g.72926822G>A							p.T364T	NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN			7	1181	+	all_lung(278;0.172)|Lung NSC(278;0.207)		364						Silent	SNP	ENST00000580223.1	37	c.1092G>A	CCDS11708.1																																																																																				0.617	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160		16	112	0	0	0	0.00499	0	16	112				
L3MBTL4	91133	broad.mit.edu	37	18	5969418	5969418	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr18:5969418G>T	ENST00000284898.6	-	18	1815	c.1615C>A	c.(1615-1617)Caa>Aaa	p.Q539K	L3MBTL4_ENST00000535782.1_Missense_Mutation_p.Q343K|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.Q539K|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.Q530K	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	539					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Q539K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				CGTGCCACTTGGCTGGCCCGG	0.637																																					Esophageal Squamous(41;748 902 17366 28959 43175)	Esophageal Squamous(41;748 902 17366 28959 43175)	uc002kmz.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|pancreas(1)	3						c.(1615-1617)CAA>AAA		l(3)mbt-like 4							43.0	53.0	50.0					18																	5969418		2133	4255	6388	SO:0001583	missense	91133				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:5969418G>T	BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.1615C>A	18.37:g.5969418G>T	ENSP00000284898:p.Gln539Lys					L3MBTL4_uc010dkt.2_Missense_Mutation_p.Q539K|L3MBTL4_uc002kmy.3_Missense_Mutation_p.Q368K	p.Q539K	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN			18	1775	-		Colorectal(10;0.0249)	539					A8MTL8|Q8IXS3	Missense_Mutation	SNP	ENST00000284898.6	37	c.1615C>A	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.579725	0.00879	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	5.66	-1.99	0.07457	Sterile alpha motif/pointed domain (2);	0.910033	0.09365	N	0.812248	T	0.04407	0.0121	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.42120	-0.9470	10	0.19590	T	0.45	.	3.1805	0.06583	0.0874:0.384:0.274:0.2546	.	539;530	Q8NA19;F8W9S8	LMBL4_HUMAN;.	K	539;530;539;343	ENSP00000382976:Q539K;ENSP00000318543:Q530K;ENSP00000284898:Q539K;ENSP00000444774:Q343K	ENSP00000284898:Q539K	Q	-	1	0	L3MBTL4	5959418	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.344000	0.07780	-0.842000	0.04195	0.655000	0.94253	CAA		0.637	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464		11	84	1	0	4.68919e-08	0.008291	5.2444e-08	11	84				
LDLRAD4	753	broad.mit.edu	37	18	13645351	13645351	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr18:13645351A>T	ENST00000359446.5	+	6	1084	c.616A>T	c.(616-618)Agg>Tgg	p.R206W	RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000361205.4_Missense_Mutation_p.R206W|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.R108W|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.R129W|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.R169W|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.R151W|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.R188W	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	206					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)	p.R169W(2)|p.R206W(2)									AGAGTCCGTGAGGGCCCCACC	0.587																																							uc002ksa.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)|skin(1)	3						c.(616-618)AGG>TGG		hypothetical protein LOC753 isoform alpha 1							78.0	86.0	83.0					18																	13645351		2203	4300	6503	SO:0001583	missense	753					integral to membrane|plasma membrane		g.chr18:13645351A>T	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.616A>T	18.37:g.13645351A>T	ENSP00000352420:p.Arg206Trp					C18orf1_uc002ksb.2_Missense_Mutation_p.R188W|C18orf1_uc002kse.2_Missense_Mutation_p.R169W|C18orf1_uc002ksf.2_Missense_Mutation_p.R151W|C18orf1_uc002ksg.1_Missense_Mutation_p.R129W|C18orf1_uc002ksh.1_Missense_Mutation_p.R148W|C18orf1_uc002ksi.1_Missense_Mutation_p.R130W	p.R206W	NM_181481	NP_852146	O15165	CR001_HUMAN		READ - Rectum adenocarcinoma(73;0.0642)	7	1284	+			206			Cytoplasmic (Potential).		B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	ENST00000359446.5	37	c.616A>T	CCDS32793.1	.	.	.	.	.	.	.	.	.	.	A	19.80	3.895362	0.72639	.	.	ENSG00000168675	ENST00000361205;ENST00000399848;ENST00000359446;ENST00000399847;ENST00000361303;ENST00000435606	T;T	0.42900	0.96;1.08	5.17	-0.768	0.11013	.	0.000000	0.85682	D	0.000000	T	0.63988	0.2558	M	0.84326	2.69	0.58432	D	0.99999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;0.999;0.998;0.999;1.0;0.999	T	0.70934	-0.4737	10	0.87932	D	0	-9.0324	14.7064	0.69194	0.4537:0.5463:0.0:0.0	.	130;148;151;169;188;206	O15165-4;O15165-3;E9PAY9;B3KNT9;O15165-2;O15165	.;.;.;.;.;CR001_HUMAN	W	206;188;169;151;148;130	ENSP00000354753:R206W;ENSP00000382741:R188W	ENSP00000352420:R169W	R	+	1	2	C18orf1	13635351	0.997000	0.39634	0.992000	0.48379	0.984000	0.73092	0.660000	0.25009	-0.009000	0.14296	0.533000	0.62120	AGG		0.587	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		46	146	0	0	0	0.013114	0	46	146				
CTAGE1	64693	broad.mit.edu	37	18	19996562	19996562	+	5'Flank	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr18:19996562C>A	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.A405S			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)		p.A405S(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AGATCTTTGGCTCGCTTTCGG	0.383																																							uc002ktv.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1213-1215)GCC>TCC		cutaneous T-cell lymphoma-associated antigen 1							80.0	91.0	88.0					18																	19996562		2162	4287	6449	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19996562C>A	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19996562C>A	Exception_encountered						p.A405S	NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN			1	1317	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		405			Potential.		B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37	c.1213G>T		.	.	.	.	.	.	.	.	.	.	C	12.74	2.027165	0.35797	.	.	ENSG00000212710	ENST00000391403	T	0.43294	0.95	1.09	-0.133	0.13485	.	.	.	.	.	T	0.56834	0.2012	M	0.85945	2.785	0.24988	N	0.991558	D	0.54047	0.964	P	0.58577	0.841	T	0.48019	-0.9071	8	.	.	.	.	4.633	0.12511	0.0:0.5884:0.4116:0.0	.	405	Q96RT6	CTGE2_HUMAN	S	405	ENSP00000375220:A405S	.	A	-	1	0	CTAGE1	18250560	0.596000	0.26866	0.496000	0.27539	0.094000	0.18550	0.117000	0.15583	-0.038000	0.13624	0.479000	0.44913	GCC		0.383	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		36	276	1	0	6.97489e-18	0.021022	8.76332e-18	36	276				
DSG3	1830	broad.mit.edu	37	18	29055815	29055815	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr18:29055815T>A	ENST00000257189.4	+	16	2675	c.2592T>A	c.(2590-2592)gaT>gaA	p.D864E		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	864					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D864E(2)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTGGTGTTGATGGTGAAGGCA	0.448																																							uc002kws.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9						c.(2590-2592)GAT>GAA		desmoglein 3 preproprotein							124.0	119.0	121.0					18																	29055815		2203	4300	6503	SO:0001583	missense	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29055815T>A	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2592T>A	18.37:g.29055815T>A	ENSP00000257189:p.Asp864Glu					DSG3_uc002kwt.2_Missense_Mutation_p.D146E	p.D864E	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		16	2701	+			864			Cytoplasmic (Potential).		A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.2592T>A	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.755274	0.49362	.	.	ENSG00000134757	ENST00000257189	T	0.56275	0.47	5.84	2.2	0.27929	.	0.123852	0.35615	N	0.003089	T	0.35682	0.0940	L	0.31120	0.905	0.26325	N	0.977613	B	0.23650	0.089	B	0.29942	0.109	T	0.27262	-1.0079	10	0.09590	T	0.72	.	8.8456	0.35168	0.0:0.2179:0.0:0.7821	.	864	P32926	DSG3_HUMAN	E	864	ENSP00000257189:D864E	ENSP00000257189:D864E	D	+	3	2	DSG3	27309813	0.996000	0.38824	0.168000	0.22838	0.010000	0.07245	0.668000	0.25127	0.154000	0.19237	-0.256000	0.11100	GAT		0.448	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		27	114	0	0	0	0.005443	0	27	114				
CCDC178	374864	broad.mit.edu	37	18	30554589	30554589	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr18:30554589C>A	ENST00000383096.3	-	22	2627	c.2445G>T	c.(2443-2445)gtG>gtT	p.V815V	CCDC178_ENST00000402325.1_Silent_p.V765V|CCDC178_ENST00000300227.8_Silent_p.V777V|CCDC178_ENST00000403303.1_Silent_p.V815V|CCDC178_ENST00000581852.1_Silent_p.V20V|CCDC178_ENST00000583930.1_Silent_p.V839V|CCDC178_ENST00000579916.1_Silent_p.V135V|CCDC178_ENST00000406524.2_Silent_p.V839V|CCDC178_ENST00000579947.1_Silent_p.V815V			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	815								p.V777V(2)|p.V815V(2)									TGAAGAGGACCACCAGTTTGA	0.512																																							uc002kxn.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(1)	1						c.(2443-2445)GTG>GTT		hypothetical protein LOC374864 isoform 1							62.0	56.0	58.0					18																	30554589		2203	4300	6503	SO:0001819	synonymous_variant	374864							g.chr18:30554589C>A	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.2445G>T	18.37:g.30554589C>A						C18orf34_uc010xbq.1_RNA|C18orf34_uc010dme.1_Silent_p.V279V|C18orf34_uc010xbr.1_Silent_p.V839V|C18orf34_uc010dmf.1_Silent_p.V135V|C18orf34_uc002kxo.2_Silent_p.V777V|C18orf34_uc002kxp.2_Silent_p.V815V	p.V815V	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN			21	2587	-			815					A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Silent	SNP	ENST00000383096.3	37	c.2445G>T	CCDS42424.1																																																																																				0.512	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		16	43	1	0	2.35188e-11	0.006122	2.76029e-11	16	43				
MBD1	4152	broad.mit.edu	37	18	47799766	47799766	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr18:47799766C>A	ENST00000591416.1	-	13	1953	c.1522G>T	c.(1522-1524)Gag>Tag	p.E508*	MBD1_ENST00000398495.2_Nonsense_Mutation_p.E477*|MBD1_ENST00000424334.2_Nonsense_Mutation_p.E559*|MBD1_ENST00000457839.2_Nonsense_Mutation_p.E533*|MBD1_ENST00000398493.1_Nonsense_Mutation_p.E452*|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000590208.1_Nonsense_Mutation_p.E508*|MBD1_ENST00000347968.3_Nonsense_Mutation_p.E452*|MBD1_ENST00000585672.1_Nonsense_Mutation_p.E458*|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000398488.1_Intron|MBD1_ENST00000591535.1_Intron|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000339998.6_Intron|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000353909.3_Nonsense_Mutation_p.E459*|MBD1_ENST00000269468.5_Nonsense_Mutation_p.E508*|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000585595.1_Nonsense_Mutation_p.E533*|MBD1_ENST00000382948.5_Nonsense_Mutation_p.E508*			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	508					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E533*(2)|p.E508*(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						GGTGTCCACTCGTCCTGGGTA	0.607																																							uc010dow.1		NA																	4	Substitution - Nonsense(4)		lung(4)	ovary(1)|central_nervous_system(1)	2						c.(1522-1524)GAG>TAG		methyl-CpG binding domain protein 1 isoform 1							128.0	96.0	107.0					18																	47799766		2203	4300	6503	SO:0001587	stop_gained	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47799766C>A	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.1522G>T	18.37:g.47799766C>A	ENSP00000467017:p.Glu508*					MBD1_uc002lef.2_Intron|MBD1_uc002leg.2_Nonsense_Mutation_p.E458*|MBD1_uc010xdi.1_Nonsense_Mutation_p.E559*|MBD1_uc002leh.3_Nonsense_Mutation_p.E452*|MBD1_uc002len.2_Intron|MBD1_uc002lei.3_Nonsense_Mutation_p.E508*|MBD1_uc002lej.3_Intron|MBD1_uc002lek.3_Nonsense_Mutation_p.E459*|MBD1_uc002lel.3_Intron|MBD1_uc002lem.3_Nonsense_Mutation_p.E508*|MBD1_uc010xdj.1_Intron|MBD1_uc010xdk.1_Nonsense_Mutation_p.E533*|MBD1_uc010dox.1_Intron|MBD1_uc002leo.2_Intron	p.E508*	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN			13	1959	-			508					A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Nonsense_Mutation	SNP	ENST00000591416.1	37	c.1522G>T	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	C	37	6.446006	0.97572	.	.	ENSG00000141644	ENST00000382948;ENST00000353909;ENST00000269468;ENST00000347968;ENST00000424334;ENST00000398495;ENST00000457839;ENST00000398493	.	.	.	5.11	5.11	0.69529	.	0.185034	0.37623	N	0.002002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-10.889	14.7549	0.69557	0.0:1.0:0.0:0.0	.	.	.	.	X	508;459;508;452;559;508;533;452	.	ENSP00000269468:E508X	E	-	1	0	MBD1	46053764	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.352000	0.52239	2.759000	0.94783	0.561000	0.74099	GAG		0.607	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		35	96	1	0	6.05902e-23	0.017118	7.93034e-23	35	96				
ME2	4200	broad.mit.edu	37	18	48447064	48447064	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr18:48447064C>T	ENST00000321341.5	+	9	1150	c.878C>T	c.(877-879)gCa>gTa	p.A293V	ME2_ENST00000382927.3_Missense_Mutation_p.A293V	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	293					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)	p.A293V(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		GGTCTTCTTGCAGCACAAAAA	0.348																																							uc002ley.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(877-879)GCA>GTA		malic enzyme 2, NAD(+)-dependent, mitochondrial	NADH(DB00157)						70.0	74.0	73.0					18																	48447064		2203	4298	6501	SO:0001583	missense	4200				malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	g.chr18:48447064C>T	M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.878C>T	18.37:g.48447064C>T	ENSP00000321070:p.Ala293Val					ME2_uc010dpd.2_Missense_Mutation_p.A293V	p.A293V	NM_002396	NP_002387	P23368	MAOM_HUMAN		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	9	1134	+		Colorectal(6;0.0273)|all_epithelial(6;0.118)	293					B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	ENST00000321341.5	37	c.878C>T	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411456	0.83340	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.34472	1.36;1.36	5.73	5.73	0.89815	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.099291	0.64402	D	0.000002	T	0.59838	0.2223	M	0.82193	2.58	0.80722	D	1	B;B	0.31227	0.028;0.314	B;P	0.46718	0.294;0.525	T	0.61724	-0.7004	10	0.72032	D	0.01	-15.3452	18.6849	0.91559	0.0:1.0:0.0:0.0	.	293;293	Q9BWL6;P23368	.;MAOM_HUMAN	V	293	ENSP00000321070:A293V;ENSP00000372384:A293V	ENSP00000321070:A293V	A	+	2	0	ME2	46701062	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.068000	0.71201	2.719000	0.93026	0.637000	0.83480	GCA		0.348	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396		31	98	0	0	0	0.010818	0	31	98				
MEX3C	51320	broad.mit.edu	37	18	48703798	48703798	+	5'UTR	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr18:48703798G>A	ENST00000591040.1	-	0	191							Q5U5Q3	MEX3C_HUMAN	mex-3 RNA binding family member C						chondrocyte hypertrophy (GO:0003415)|energy homeostasis (GO:0097009)|regulation of fat cell differentiation (GO:0045598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S106S(2)|p.S301S(2)		endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		CACGAATCATGGAGAAGTGCT	0.502																																							uc002lfc.3		NA																	4	Substitution - coding silent(4)		lung(4)	lung(2)|ovary(1)|skin(1)	4						c.(901-903)TCC>TCT		ring finger and KH domain containing 2							100.0	84.0	89.0					18																	48703798		2203	4300	6503	SO:0001623	5_prime_UTR_variant	51320					cytoplasm|nucleus	RNA binding|zinc ion binding	g.chr18:48703798G>A	BC041122	CCDS11951.2	18q21.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000176624	ENSG00000176624		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	28040	protein-coding gene	gene with protein product		611005	"""ring finger and KH domain containing 2"", ""mex-3 homolog C (C. elegans)"""	RKHD2		17267406	Standard	NM_016626		Approved	FLJ38871, RNF194	uc002lfc.4	Q5U5Q3	OTTHUMG00000132693	ENST00000591040.1:c.-608C>T	18.37:g.48703798G>A							p.S301S	NM_016626	NP_057710	Q5U5Q3	MEX3C_HUMAN		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)	2	903	-		Colorectal(6;0.003)|all_epithelial(6;0.0473)	301					A1L022|Q9NZE3	Silent	SNP	ENST00000591040.1	37	c.903C>T																																																																																					0.502	MEX3C-003	KNOWN	mRNA_end_NF|basic	processed_transcript	protein_coding	OTTHUMT00000449559.1	NM_016626		27	40	0	0	0	0.021523	0	27	40				
WDR7	23335	broad.mit.edu	37	18	54446673	54446673	+	Silent	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr18:54446673T>C	ENST00000254442.3	+	18	3170	c.2959T>C	c.(2959-2961)Tta>Cta	p.L987L	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.L954L	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	987					hematopoietic progenitor cell differentiation (GO:0002244)			p.L987L(1)		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)		TTGGAGTCAGTTAGCTGCTAT	0.403																																							uc002lgk.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(2959-2961)TTA>CTA		rabconnectin-3 beta isoform 1							131.0	119.0	123.0					18																	54446673		2203	4300	6503	SO:0001819	synonymous_variant	23335							g.chr18:54446673T>C	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.2959T>C	18.37:g.54446673T>C						WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Silent_p.L954L	p.L987L	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	18	3170	+			987					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Silent	SNP	ENST00000254442.3	37	c.2959T>C	CCDS11962.1																																																																																				0.403	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			94	74	0	0	0	0.01441	0	94	74				
LMAN1	3998	broad.mit.edu	37	18	57026338	57026338	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr18:57026338C>G	ENST00000251047.5	-	1	856	c.139G>C	c.(139-141)Gag>Cag	p.E47Q	RP11-27G24.1_ENST00000591331.1_lincRNA	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	47	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)	p.E47Q(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TATTTGTACTCGAAACGGCGA	0.687																																							uc002lhz.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(139-141)GAG>CAG		lectin, mannose-binding, 1 precursor	Antihemophilic Factor(DB00025)						66.0	72.0	70.0					18																	57026338		2203	4300	6503	SO:0001583	missense	3998				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	g.chr18:57026338C>G	X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"""endoplasmic reticulum-golgi intermediate compartment protein 53"""	601567	"""coagulation factor V-factor VIII combined deficiency"""	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.139G>C	18.37:g.57026338C>G	ENSP00000251047:p.Glu47Gln					LMAN1_uc010xek.1_Missense_Mutation_p.E47Q	p.E47Q	NM_005570	NP_005561	P49257	LMAN1_HUMAN			1	171	-		Colorectal(73;0.0946)	47			Lumenal (Potential).|L-type lectin-like.		Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Missense_Mutation	SNP	ENST00000251047.5	37	c.139G>C	CCDS11974.1	.	.	.	.	.	.	.	.	.	.	C	32	5.156508	0.94686	.	.	ENSG00000074695	ENST00000251047	T	0.64618	-0.11	3.83	3.83	0.44106	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.79161	0.4399	M	0.81179	2.53	0.80722	D	1	D;D	0.89917	0.974;1.0	P;D	0.79784	0.856;0.993	T	0.82210	-0.0570	10	0.52906	T	0.07	-7.1078	15.8905	0.79293	0.0:1.0:0.0:0.0	.	47;47	B4DVV0;P49257	.;LMAN1_HUMAN	Q	47	ENSP00000251047:E47Q	ENSP00000251047:E47Q	E	-	1	0	LMAN1	55177318	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.908000	0.75730	2.131000	0.65755	0.561000	0.74099	GAG		0.687	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	NM_005570		45	112	0	0	0	0.01441	0	45	112				
SALL3	27164	broad.mit.edu	37	18	76753743	76753743	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr18:76753743A>G	ENST00000537592.2	+	2	1752	c.1752A>G	c.(1750-1752)ccA>ccG	p.P584P	SALL3_ENST00000575389.2_Silent_p.P584P|SALL3_ENST00000536229.3_Silent_p.P451P	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	584					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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.P584P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCGAGTCCCCACAGTCGCTCC	0.746																																							uc002lmt.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(1750-1752)CCA>CCG		sal-like 3							4.0	5.0	5.0					18																	76753743		1695	3618	5313	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76753743A>G	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1752A>G	18.37:g.76753743A>G						SALL3_uc010dra.2_Silent_p.P191P	p.P584P	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	1752	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	584					Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.1752A>G	CCDS12013.1																																																																																				0.746	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		5	2	0	0	0	0.013537	0	5	2				
RPS15	6209	broad.mit.edu	37	19	1440170	1440170	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:1440170G>A	ENST00000586686.2	+	3	281	c.242G>A	c.(241-243)cGg>cAg	p.R81Q	RPS15_ENST00000585665.1_Missense_Mutation_p.R48Q|RPS15_ENST00000586096.2_Missense_Mutation_p.R81Q|RPS15_ENST00000589656.2_Missense_Mutation_p.R81Q|RPS15_ENST00000591804.2_Missense_Mutation_p.R48Q|AC027307.3_ENST00000594262.1_5'Flank|RPS15_ENST00000233609.4_Missense_Mutation_p.R54Q|RPS15_ENST00000593052.1_Missense_Mutation_p.R88Q|RPS15_ENST00000591032.1_Missense_Mutation_p.R48Q			P62841	RS15_HUMAN	ribosomal protein S15	81					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|osteoblast differentiation (GO:0001649)|ribosomal small subunit biogenesis (GO:0042274)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.R81Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGCACCTGCGGGACATGATC	0.637																																					Ovarian(170;79 2680 5719 44260)	Ovarian(170;79 2680 5719 44260)	uc002lsp.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(241-243)CGG>CAG		ribosomal protein S15							28.0	31.0	30.0					19																	1440170		2202	4300	6502	SO:0001583	missense	6209				endocrine pancreas development|ribosomal small subunit export from nucleus|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	DNA binding|protein binding|RNA binding	g.chr19:1440170G>A		CCDS12067.1	19p13.3	2012-12-20			ENSG00000115268	ENSG00000115268		"""S ribosomal proteins"""	10388	protein-coding gene	gene with protein product	"""40S ribosomal protein S15"", ""homolog of rat insulinoma"", ""insulinoma protein"""	180535				2159154	Standard	NM_001018		Approved	RIG, MGC111130, S15	uc002lsp.1	P62841	OTTHUMG00000140099	ENST00000586686.2:c.242G>A	19.37:g.1440170G>A	ENSP00000467676:p.Arg81Gln					RPS15_uc002lsq.1_Missense_Mutation_p.R88Q	p.R81Q	NM_001018	NP_001009	P62841	RS15_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	304	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	81					A5D8V9|P11174|Q3KRA1|Q9UDC2	Missense_Mutation	SNP	ENST00000586686.2	37	c.242G>A	CCDS12067.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705143	0.48412	.	.	ENSG00000115268	ENST00000233609	.	.	.	4.4	3.34	0.38264	Ribosomal protein S19, superfamily (2);	0.000000	0.64402	U	0.000001	D	0.83686	0.5308	H	0.99758	4.755	0.80722	D	1	D	0.54772	0.968	P	0.47102	0.537	D	0.89402	0.3696	9	0.62326	D	0.03	-26.5973	12.9586	0.58444	0.0:0.0:0.8366:0.1634	.	81	P62841	RS15_HUMAN	Q	81	.	ENSP00000233609:R81Q	R	+	2	0	RPS15	1391170	1.000000	0.71417	0.973000	0.42090	0.096000	0.18686	9.595000	0.98260	0.950000	0.37743	-0.241000	0.12123	CGG		0.637	RPS15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449609.4	NM_001018		4	28	0	0	0	0.014758	0	4	28				
THOP1	7064	broad.mit.edu	37	19	2790467	2790467	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:2790467A>G	ENST00000307741.6	+	2	268	c.65A>G	c.(64-66)aAc>aGc	p.N22S		NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	22					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)	p.N22S(2)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGTGGTAAACGACCTGCGG	0.607																																							uc002lwj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(64-66)AAC>AGC		thimet oligopeptidase 1							109.0	97.0	101.0					19																	2790467		2203	4300	6503	SO:0001583	missense	7064				proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	g.chr19:2790467A>G		CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.65A>G	19.37:g.2790467A>G	ENSP00000304467:p.Asn22Ser						p.N22S	NM_003249	NP_003240	P52888	THOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	220	+			22					B3KSE2|Q9UCB3	Missense_Mutation	SNP	ENST00000307741.6	37	c.65A>G	CCDS12095.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.719217	0.30503	.	.	ENSG00000172009	ENST00000307741	T	0.08102	3.13	4.9	4.9	0.64082	Neurolysin/Thimet oligopeptidase, N-terminal (1);	0.044457	0.85682	D	0.000000	T	0.09598	0.0236	L	0.52364	1.645	0.80722	D	1	P	0.36282	0.546	B	0.37239	0.244	T	0.06679	-1.0813	10	0.52906	T	0.07	-64.1717	8.8396	0.35133	0.9094:0.0:0.0906:0.0	.	22	P52888	THOP1_HUMAN	S	22	ENSP00000304467:N22S	ENSP00000304467:N22S	N	+	2	0	THOP1	2741467	1.000000	0.71417	0.153000	0.22517	0.183000	0.23260	5.209000	0.65208	1.836000	0.53414	0.459000	0.35465	AAC		0.607	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2			59	81	0	0	0	0.01441	0	59	81				
MYO1F	4542	broad.mit.edu	37	19	8591385	8591385	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:8591385C>T	ENST00000338257.8	-	24	2989	c.2722G>A	c.(2722-2724)Ggt>Agt	p.G908S		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	908	Myosin tail. {ECO:0000255}.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)	p.G908S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AGGGTCCGACCGCCAACCTTG	0.677																																							uc002mkg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2722-2724)GGT>AGT		myosin IF							9.0	14.0	12.0					19																	8591385		2108	4220	6328	SO:0001583	missense	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8591385C>T	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.2722G>A	19.37:g.8591385C>T	ENSP00000344871:p.Gly908Ser						p.G908S	NM_012335	NP_036467	O00160	MYO1F_HUMAN			24	2836	-			908					Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.2722G>A	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.598791	0.28445	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	T	0.34667	1.35	5.54	0.982	0.19762	Myosin tail 2 (1);	0.129601	0.51477	N	0.000097	T	0.23210	0.0561	L	0.31157	0.91	0.54753	D	0.999985	B	0.25351	0.124	B	0.27262	0.078	T	0.05582	-1.0876	10	0.22109	T	0.4	.	9.3939	0.38390	0.0:0.6324:0.0:0.3676	.	908	O00160	MYO1F_HUMAN	S	953;908	ENSP00000344871:G908S	ENSP00000304899:G953S	G	-	1	0	MYO1F	8497385	0.723000	0.28027	0.005000	0.12908	0.171000	0.22731	1.344000	0.33941	0.046000	0.15833	0.555000	0.69702	GGT		0.677	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			2	2	0	0	0	0.004672	0	2	2				
OR1M1	125963	broad.mit.edu	37	19	9203967	9203967	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:9203967G>T	ENST00000429566.3	+	1	113	c.47G>T	c.(46-48)gGa>gTa	p.G16V		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G16V(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ATCCTCCTGGGACTCTCAGAA	0.507																																							uc010xkj.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)	3						c.(46-48)GGA>GTA		olfactory receptor, family 1, subfamily M,							101.0	91.0	94.0					19																	9203967		2203	4300	6503	SO:0001583	missense	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9203967G>T		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.47G>T	19.37:g.9203967G>T	ENSP00000401966:p.Gly16Val						p.G16V	NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN			1	47	+			16			Extracellular (Potential).		B9EHA6|Q6IFJ3|Q96R91	Missense_Mutation	SNP	ENST00000429566.3	37	c.47G>T	CCDS32896.1	.	.	.	.	.	.	.	.	.	.	g	15.89	2.965959	0.53507	.	.	ENSG00000170929	ENST00000305465;ENST00000429566	T	0.00659	5.94	3.49	2.42	0.29668	.	0.000000	0.53938	D	0.000042	T	0.05868	0.0153	H	0.95151	3.63	0.54753	D	0.999981	D	0.89917	1.0	D	0.87578	0.998	T	0.00675	-1.1615	10	0.87932	D	0	.	7.9858	0.30212	0.0:0.1749:0.6454:0.1798	.	16	Q8NGA1	OR1M1_HUMAN	V	19;16	ENSP00000401966:G16V	ENSP00000303195:G19V	G	+	2	0	OR1M1	9064967	0.758000	0.28405	0.225000	0.23894	0.246000	0.25737	1.675000	0.37555	0.786000	0.33708	0.400000	0.26472	GGA		0.507	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			27	33	1	0	1.2476e-16	0.00632	1.55751e-16	27	33				
MAN2B1	4125	broad.mit.edu	37	19	12758269	12758269	+	Silent	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:12758269G>C	ENST00000456935.2	-	22	2848	c.2808C>G	c.(2806-2808)acC>acG	p.T936T	CTD-2192J16.22_ENST00000597692.1_Missense_Mutation_p.L123V|MAN2B1_ENST00000221363.4_Silent_p.T935T	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	936					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCAAGTTCAAGGTAACGGGGG	0.577																																							uc002mub.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(2806-2808)ACC>ACG		mannosidase, alpha, class 2B, member 1							115.0	109.0	111.0					19																	12758269		2203	4300	6503	SO:0001819	synonymous_variant	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12758269G>C		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.2808C>G	19.37:g.12758269G>C						MAN2B1_uc010dyv.1_Silent_p.T935T	p.T936T	NM_000528	NP_000519	O00754	MA2B1_HUMAN			22	2884	-			936					G5E928|O15330|Q16680|Q93094|Q9BW13	Silent	SNP	ENST00000456935.2	37	c.2808C>G	CCDS32919.1																																																																																				0.577	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			8	169	0	0	0	0.004482	0	8	169				
OR7A10	390892	broad.mit.edu	37	19	14952191	14952191	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:14952191G>C	ENST00000248058.1	-	1	498	c.499C>G	c.(499-501)Ccc>Gcc	p.P167A		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P167A(2)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					GTACAAAAGGGCAGTGGCAAC	0.428																																							uc002mzx.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(499-501)CCC>GCC		olfactory receptor, family 7, subfamily A,							81.0	79.0	80.0					19																	14952191		2203	4300	6503	SO:0001583	missense	390892				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14952191G>C		CCDS32936.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.499C>G	19.37:g.14952191G>C	ENSP00000248058:p.Pro167Ala						p.P167A	NM_001005190	NP_001005190	O76100	OR7AA_HUMAN			1	499	-	Ovarian(108;0.203)		167			Extracellular (Potential).		Q6IFP0|Q96R97	Missense_Mutation	SNP	ENST00000248058.1	37	c.499C>G	CCDS32936.1	.	.	.	.	.	.	.	.	.	.	g	0.949	-0.707173	0.03230	.	.	ENSG00000127515	ENST00000248058	T	0.00179	8.61	2.75	-1.07	0.09968	GPCR, rhodopsin-like superfamily (1);	0.436403	0.16597	U	0.207493	T	0.00178	0.0005	M	0.69823	2.125	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.46400	-0.9194	10	0.59425	D	0.04	.	2.9078	0.05727	0.564:0.0:0.2479:0.1881	.	167	O76100	OR7AA_HUMAN	A	167	ENSP00000248058:P167A	ENSP00000248058:P167A	P	-	1	0	OR7A10	14813191	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	-0.012000	0.12699	-0.450000	0.07107	0.134000	0.15878	CCC		0.428	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466520.1	NM_001005190		37	54	0	0	0	0.017118	0	37	54				
OR7A17	26333	broad.mit.edu	37	19	14991871	14991871	+	Silent	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:14991871G>C	ENST00000327462.2	-	1	393	c.297C>G	c.(295-297)acC>acG	p.T99T		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T99T(3)		breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					AGCACATCTGGGTGATGCAGC	0.468																																							uc010xob.1		NA																	3	Substitution - coding silent(3)		lung(3)		0						c.(295-297)ACC>ACG		olfactory receptor, family 7, subfamily A,							149.0	131.0	137.0					19																	14991871		2203	4300	6503	SO:0001819	synonymous_variant	26333				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14991871G>C	X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"""GPCR / Class A : Olfactory receptors"""	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.297C>G	19.37:g.14991871G>C							p.T99T	NM_030901	NP_112163	O14581	OR7AH_HUMAN			1	297	-	Ovarian(108;0.203)		99			Extracellular (Potential).		Q6IFQ6|Q96R98	Silent	SNP	ENST00000327462.2	37	c.297C>G	CCDS12319.1																																																																																				0.468	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466523.1	NM_030901		45	50	0	0	0	0.01441	0	45	50				
OR7C2	26658	broad.mit.edu	37	19	15052376	15052376	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:15052376C>T	ENST00000248072.3	+	1	76	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L26F(2)		large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					CATGCAGCTTCTCCTCCATGG	0.537																																							uc010xoc.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(76-78)CTC>TTC		olfactory receptor, family 7, subfamily C,							97.0	87.0	90.0					19																	15052376		2203	4300	6503	SO:0001583	missense	26658				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15052376C>T	U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"""GPCR / Class A : Olfactory receptors"""	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412		ENST00000248072.3:c.76C>T	19.37:g.15052376C>T	ENSP00000248072:p.Leu26Phe						p.L26F	NM_012377	NP_036509	O60412	OR7C2_HUMAN			1	76	+	Ovarian(108;0.203)		26			Helical; Name=1; (Potential).		O43881|Q6IFP9	Missense_Mutation	SNP	ENST00000248072.3	37	c.76C>T	CCDS12320.1	.	.	.	.	.	.	.	.	.	.	c	8.267	0.812396	0.16537	.	.	ENSG00000127529	ENST00000248072	T	0.00637	6.05	4.19	-7.34	0.01427	.	0.882064	0.09351	N	0.814169	T	0.00468	0.0015	L	0.31578	0.945	0.09310	N	1	B	0.15141	0.012	B	0.17979	0.02	T	0.44283	-0.9338	10	0.29301	T	0.29	.	1.8475	0.03162	0.2351:0.2585:0.3464:0.16	.	26	O60412	OR7C2_HUMAN	F	26	ENSP00000248072:L26F	ENSP00000248072:L26F	L	+	1	0	OR7C2	14913376	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.172000	0.01266	-1.311000	0.02309	-1.284000	0.01376	CTC		0.537	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466281.1			66	66	0	0	0	0.01441	0	66	66				
PGLYRP2	114770	broad.mit.edu	37	19	15586354	15586354	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:15586354A>G	ENST00000340880.4	-	2	1607	c.1127T>C	c.(1126-1128)tTc>tCc	p.F376S	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.F376S	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	376					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)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|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.F376S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CTCACCCAGGAAGGCCTCAGT	0.562																																							uc002nbf.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1126-1128)TTC>TCC		peptidoglycan recognition protein 2 precursor							104.0	107.0	106.0					19																	15586354		2203	4299	6502	SO:0001583	missense	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15586354A>G	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.1127T>C	19.37:g.15586354A>G	ENSP00000345968:p.Phe376Ser					PGLYRP2_uc002nbg.3_Missense_Mutation_p.F376S	p.F376S	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN			2	1260	-			376					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	c.1127T>C	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	A	13.66	2.303931	0.40795	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.04706	3.58;3.57	5.4	4.36	0.52297	N-acetylmuramoyl-L-alanine amidase domain (1);	0.336096	0.32147	N	0.006520	T	0.16854	0.0405	M	0.70595	2.14	0.58432	D	0.999998	P;D	0.76494	0.826;0.999	P;D	0.73708	0.612;0.981	T	0.00207	-1.1919	10	0.56958	D	0.05	-3.8594	8.5013	0.33159	0.8275:0.0:0.0:0.1725	.	376;376	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	S	376	ENSP00000345968:F376S;ENSP00000292609:F376S	ENSP00000292609:F376S	F	-	2	0	PGLYRP2	15447354	1.000000	0.71417	0.999000	0.59377	0.218000	0.24690	2.635000	0.46537	0.855000	0.35359	0.459000	0.35465	TTC		0.562	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		110	140	0	0	0	0.01441	0	110	140				
MAST3	23031	broad.mit.edu	37	19	18254604	18254604	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:18254604T>G	ENST00000262811.6	+	21	2284	c.2284T>G	c.(2284-2286)Tgt>Ggt	p.C762G	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	762							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TGGATCCTCCTGTCAGTCATC	0.592																																							uc002nhz.3		NA																	0				large_intestine(2)|ovary(2)|stomach(1)	5						c.(2284-2286)TGT>GGT		microtubule associated serine/threonine kinase							34.0	36.0	35.0					19																	18254604		2043	4195	6238	SO:0001583	missense	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18254604T>G	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2284T>G	19.37:g.18254604T>G	ENSP00000262811:p.Cys762Gly						p.C762G	NM_015016	NP_055831	O60307	MAST3_HUMAN			21	2284	+			762					Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	c.2284T>G	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	T	11.03	1.517976	0.27211	.	.	ENSG00000099308	ENST00000262811	T	0.66099	-0.19	4.16	3.03	0.35002	.	0.692185	0.14686	N	0.304461	T	0.42471	0.1204	L	0.34521	1.04	0.44660	D	0.99764	B	0.02656	0.0	B	0.01281	0.0	T	0.25882	-1.0119	10	0.14656	T	0.56	-17.7572	3.4262	0.07412	0.0:0.3537:0.0:0.6463	.	762	O60307	MAST3_HUMAN	G	762	ENSP00000262811:C762G	ENSP00000262811:C762G	C	+	1	0	MAST3	18115604	0.943000	0.32029	0.933000	0.37362	0.933000	0.57130	0.481000	0.22260	1.539000	0.49286	0.402000	0.26972	TGT		0.592	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		4	37	0	0	0	0.009096	0	4	37				
ZNF569	148266	broad.mit.edu	37	19	37903769	37903769	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:37903769C>A	ENST00000316950.6	-	6	2348	c.1791G>T	c.(1789-1791)atG>atT	p.M597I	ZNF569_ENST00000392150.2_Missense_Mutation_p.M438I|ZNF569_ENST00000392149.2_Missense_Mutation_p.M597I	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	597					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.M597I(2)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATGGCCTCTCATGTGCACAA	0.403																																							uc002ogi.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(2)|skin(1)	3						c.(1789-1791)ATG>ATT		zinc finger protein 569							110.0	109.0	110.0					19																	37903769		2203	4300	6503	SO:0001583	missense	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37903769C>A	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.1791G>T	19.37:g.37903769C>A	ENSP00000325018:p.Met597Ile					ZNF569_uc002ogh.2_Missense_Mutation_p.M438I|ZNF569_uc002ogj.2_Missense_Mutation_p.M621I	p.M597I	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	2349	-			597			C2H2-type 15.		A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	c.1791G>T	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932287	0.52866	.	.	ENSG00000196437	ENST00000316950;ENST00000392149;ENST00000392150	T;T	0.10573	2.86;2.86	4.1	3.05	0.35203	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06142	0.0159	N	0.05441	-0.05	0.30139	N	0.804107	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.004	T	0.12604	-1.0541	9	0.87932	D	0	.	8.4339	0.32775	0.1753:0.6549:0.1698:0.0	.	438;597	Q17RR6;Q5MCW4	.;ZN569_HUMAN	I	597;253;438	ENSP00000325018:M597I;ENSP00000375993:M438I	ENSP00000325018:M597I	M	-	3	0	ZNF569	42595609	0.001000	0.12720	0.998000	0.56505	0.998000	0.95712	0.620000	0.24403	1.040000	0.40099	0.655000	0.94253	ATG		0.403	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		82	79	1	0	2.96794e-49	0.01441	4.18501e-49	82	79				
FCGBP	8857	broad.mit.edu	37	19	40367914	40367914	+	Splice_Site	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:40367914T>C	ENST00000221347.6	-	29	13053	c.13046A>G	c.(13045-13047)gAg>gGg	p.E4349G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4349						extracellular vesicular exosome (GO:0070062)		p.E4349G(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCAGGTGATCTCTGTGGGCAG	0.607																																							uc002omp.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(13045-13047)GAG>GGG		Fc fragment of IgG binding protein precursor							37.0	45.0	42.0					19																	40367914		2184	4078	6262	SO:0001630	splice_region_variant	8857					extracellular region	protein binding	g.chr19:40367914T>C	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13046-1A>G	19.37:g.40367914T>C							p.E4349G	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		29	13054	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4349					O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.13046A>G	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	T	12.42	1.933567	0.34096	.	.	ENSG00000090920	ENST00000221347	T	0.77750	-1.12	4.28	-3.89	0.04193	Uncharacterised domain, cysteine-rich (2);Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (1);	0.666700	0.13809	U	0.361229	T	0.62660	0.2446	L	0.52759	1.655	0.19775	N	0.999951	B	0.06786	0.001	B	0.10450	0.005	T	0.53989	-0.8360	10	0.87932	D	0	.	0.631	0.00794	0.2223:0.2426:0.302:0.233	.	4349	Q9Y6R7	FCGBP_HUMAN	G	4349	ENSP00000221347:E4349G	ENSP00000221347:E4349G	E	-	2	0	FCGBP	45059754	0.691000	0.27709	0.013000	0.15412	0.405000	0.30901	0.469000	0.22067	-0.650000	0.05423	-0.973000	0.02599	GAG		0.607	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	Missense_Mutation	47	117	0	0	0	0.011902	0	47	117				
CYP2A7	1549	broad.mit.edu	37	19	41386491	41386491	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:41386491C>A	ENST00000301146.4	-	3	927	c.386G>T	c.(385-387)cGc>cTc	p.R129L	CYP2A7_ENST00000291764.3_Missense_Mutation_p.R78L|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	129						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)	p.R129L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GATGGCAAAGCGCAGGAGCTG	0.697																																							uc002opm.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						c.(385-387)CGC>CTC		cytochrome P450, family 2, subfamily A,							23.0	20.0	21.0					19																	41386491		2148	4113	6261	SO:0001583	missense	1549					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41386491C>A	NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"""Cytochrome P450s"""	2611	protein-coding gene	gene with protein product		608054	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"""			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.386G>T	19.37:g.41386491C>A	ENSP00000301146:p.Arg129Leu					CYP2A7_uc002opo.2_Missense_Mutation_p.R129L|CYP2A7_uc002opn.2_Missense_Mutation_p.R78L	p.R129L	NM_000764	NP_000755	P20853	CP2A7_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		3	928	-			129					Q13121	Missense_Mutation	SNP	ENST00000301146.4	37	c.386G>T	CCDS12569.1	.	.	.	.	.	.	.	.	.	.	c	15.07	2.723534	0.48728	.	.	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.15603	4.77;2.41	2.22	2.22	0.28083	.	0.000000	0.85682	U	0.000000	T	0.29620	0.0739	M	0.90483	3.12	0.34968	D	0.752869	B;B;B	0.34399	0.105;0.452;0.028	B;B;B	0.38056	0.137;0.264;0.049	T	0.54221	-0.8326	10	0.87932	D	0	.	11.4692	0.50257	0.0:1.0:0.0:0.0	.	129;78;129	B7ZKR0;F8W816;P20853	.;.;CP2A7_HUMAN	L	129;78	ENSP00000301146:R129L;ENSP00000291764:R78L	ENSP00000291764:R78L	R	-	2	0	CYP2A7	46078331	0.848000	0.29623	0.054000	0.19295	0.009000	0.06853	5.050000	0.64251	1.220000	0.43490	0.195000	0.17529	CGC		0.697	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589		14	35	1	0	6.31663e-08	0.003163	7.05447e-08	14	35				
FOXA3	3171	broad.mit.edu	37	19	46376130	46376130	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:46376130A>T	ENST00000302177.2	+	2	1064	c.867A>T	c.(865-867)ccA>ccT	p.P289P		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	289					cell differentiation (GO:0030154)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|chromatin modification (GO:0016568)|endocrine pancreas development (GO:0031018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P289P(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		TGGAGCTCCCAGGGGAGCTGA	0.607																																							uc002pdr.2		NA																	2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(865-867)CCA>CCT		forkhead box A3							50.0	49.0	49.0					19																	46376130		2203	4300	6503	SO:0001819	synonymous_variant	3171				brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr19:46376130A>T	L12141	CCDS12677.1	19q13.32	2014-09-11		2002-09-20	ENSG00000170608	ENSG00000170608		"""Forkhead boxes"""	5023	protein-coding gene	gene with protein product		602295	"""hepatocyte nuclear factor 3, gamma"""	HNF3G		9119385	Standard	NM_004497		Approved		uc002pdr.3	P55318	OTTHUMG00000182484	ENST00000302177.2:c.867A>T	19.37:g.46376130A>T							p.P289P	NM_004497	NP_004488	P55318	FOXA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)	2	1064	+		Ovarian(192;0.0308)|all_neural(266;0.0476)	289					A9LYI5|Q53F16|Q9UMW9	Silent	SNP	ENST00000302177.2	37	c.867A>T	CCDS12677.1																																																																																				0.607	FOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461682.1			38	24	0	0	0	0.007835	0	38	24				
LIG1	3978	broad.mit.edu	37	19	48620931	48620931	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:48620931G>A	ENST00000263274.7	-	26	2966	c.2547C>T	c.(2545-2547)ctC>ctT	p.L849L	LIG1_ENST00000427526.2_Silent_p.L818L|CTC-453G23.5_ENST00000596563.1_RNA|CTC-453G23.5_ENST00000596839.1_RNA|LIG1_ENST00000536218.1_Silent_p.L781L	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	849					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)	p.L849L(2)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GAGAGAGGGAGAGGTCAGCGC	0.662								Nucleotide excision repair (NER)																															uc002pia.1		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(2)|lung(1)	3						c.(2545-2547)CTC>CTT	NER	DNA ligase I	Bleomycin(DB00290)						38.0	32.0	34.0					19																	48620931		2203	4300	6503	SO:0001819	synonymous_variant	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48620931G>A		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.2547C>T	19.37:g.48620931G>A						LIG1_uc010xze.1_Silent_p.L542L|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Silent_p.L781L|LIG1_uc010xzg.1_Silent_p.L818L	p.L849L	NM_000234	NP_000225	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	26	2667	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	849					B2RAI8|Q2TB12|Q32P23	Silent	SNP	ENST00000263274.7	37	c.2547C>T	CCDS12711.1																																																																																				0.662	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		9	22	0	0	0	0.004482	0	9	22				
SLC6A16	28968	broad.mit.edu	37	19	49814442	49814442	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:49814442G>A	ENST00000335875.4	-	2	404	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	SLC6A16_ENST00000454748.3_Missense_Mutation_p.R55W|MIR4324_ENST00000584846.1_RNA	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	55					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)	p.R55W(3)		NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		TCTGCAACCCGGGCTGCTGAA	0.542																																							uc002pmz.2		NA																	3	Substitution - Missense(3)		lung(2)|large_intestine(1)	skin(2)|ovary(1)|kidney(1)	4						c.(163-165)CGG>TGG		solute carrier family 6, member 16							52.0	52.0	52.0					19																	49814442		1949	4136	6085	SO:0001583	missense	28968					integral to membrane|intracellular	neurotransmitter:sodium symporter activity	g.chr19:49814442G>A	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"""Solute carriers"""	13622	protein-coding gene	gene with protein product	"""NTT5 protein"""	607972	"""solute carrier family 6 (neurotransmitter transporter), member 16"""			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.163C>T	19.37:g.49814442G>A	ENSP00000338627:p.Arg55Trp					SLC6A16_uc002pna.2_Missense_Mutation_p.R55W|hsa-mir-4324|MI0015854_5'Flank	p.R55W	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	2	397	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	55			Cytoplasmic (Potential).		Q8IYV4|Q9Y5I9	Missense_Mutation	SNP	ENST00000335875.4	37	c.163C>T	CCDS42590.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768601	0.49680	.	.	ENSG00000063127	ENST00000335875;ENST00000454748	T;T	0.75154	-0.91;-0.88	4.16	3.13	0.36017	.	18.898000	0.00166	N	0.000000	T	0.64972	0.2647	L	0.29908	0.895	0.09310	N	1	B;B	0.30741	0.293;0.293	B;B	0.21708	0.036;0.036	T	0.56751	-0.7927	10	0.72032	D	0.01	.	7.7893	0.29110	0.1122:0.0:0.8878:0.0	.	55;55	Q8IYV4;Q9GZN6	.;S6A16_HUMAN	W	55	ENSP00000338627:R55W;ENSP00000404022:R55W	ENSP00000338627:R55W	R	-	1	2	SLC6A16	54506254	0.007000	0.16637	0.005000	0.12908	0.005000	0.04900	1.203000	0.32284	1.355000	0.45865	0.585000	0.79938	CGG		0.542	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037		9	59	0	0	0	0.006214	0	9	59				
POLD1	5424	broad.mit.edu	37	19	50905742	50905742	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:50905742A>G	ENST00000440232.2	+	7	843	c.790A>G	c.(790-792)Aac>Gac	p.N264D	POLD1_ENST00000595904.1_Missense_Mutation_p.N264D|POLD1_ENST00000599857.1_Missense_Mutation_p.N264D	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	264					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.N264D(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CGTCGGCTGCAACTGGCTGGA	0.667								DNA polymerases (catalytic subunits)																															uc002psb.3		NA																	4	Substitution - Missense(4)		lung(4)	upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(790-792)AAC>GAC	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase delta 1							19.0	20.0	20.0					19																	50905742		2200	4299	6499	SO:0001583	missense	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50905742A>G		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.790A>G	19.37:g.50905742A>G	ENSP00000406046:p.Asn264Asp					POLD1_uc002psc.3_Missense_Mutation_p.N264D|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.N264D	p.N264D	NM_002691	NP_002682	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	7	846	+		all_neural(266;0.0571)	264					Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	c.790A>G	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.076598	0.76415	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.09350	2.99	3.99	3.99	0.46301	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.356498	0.29900	N	0.010913	T	0.24122	0.0584	M	0.67700	2.07	0.39299	D	0.96487	P;P	0.42993	0.797;0.755	P;P	0.53809	0.568;0.735	T	0.03043	-1.1079	10	0.72032	D	0.01	-49.7391	12.3183	0.54971	1.0:0.0:0.0:0.0	.	264;264	E7EVW0;P28340	.;DPOD1_HUMAN	D	264;265	ENSP00000406046:N264D	ENSP00000366129:N265D	N	+	1	0	POLD1	55597554	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	3.767000	0.55288	1.824000	0.53156	0.402000	0.26972	AAC		0.667	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			11	8	0	0	0	0.007413	0	11	8				
LILRB2	10288	broad.mit.edu	37	19	54783844	54783844	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:54783844G>T	ENST00000391749.4	-	4	428	c.157C>A	c.(157-159)Ctt>Att	p.L53I	LILRB2_ENST00000391748.1_Missense_Mutation_p.L53I|LILRB2_ENST00000314446.5_Missense_Mutation_p.L53I|LILRB2_ENST00000471216.1_5'UTR|MIR4752_ENST00000579672.1_RNA|LILRB2_ENST00000391746.1_Missense_Mutation_p.L53I|LILRB2_ENST00000434421.1_Intron	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	53	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)	p.L53I(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGGCTTCAAGGCTCCCCTGA	0.547																																							uc002qfb.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(157-159)CTT>ATT		leukocyte immunoglobulin-like receptor,							167.0	166.0	167.0					19																	54783844		2203	4300	6503	SO:0001583	missense	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54783844G>T	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.157C>A	19.37:g.54783844G>T	ENSP00000375629:p.Leu53Ile					LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.L53I|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.L53I|LILRB2_uc010yet.1_Intron|LILRB2_uc010yeu.1_RNA	p.L53I	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	4	423	-	Ovarian(34;0.19)		53			Extracellular (Potential).|Ig-like C2-type 1.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.157C>A	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029629	0.35797	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	2.41	0.165	0.14995	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.124260	0.02073	N	0.051704	T	0.35508	0.0934	M	0.85945	2.785	0.09310	N	1	B;B;B	0.20459	0.045;0.007;0.028	P;B;B	0.45881	0.496;0.199;0.257	T	0.51419	-0.8708	10	0.72032	D	0.01	.	4.0323	0.09714	0.3859:0.0:0.6141:0.0	.	53;70;53	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	I	53	ENSP00000375628:L53I;ENSP00000319960:L53I;ENSP00000375629:L53I;ENSP00000375626:L53I	ENSP00000319960:L53I	L	-	1	0	LILRB2	59475656	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.011000	0.13264	0.333000	0.23563	0.289000	0.19496	CTT		0.547	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			147	133	1	0	1.24568e-56	0.01441	1.76923e-56	147	133				
GP6	51206	broad.mit.edu	37	19	55543670	55543670	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:55543670C>G	ENST00000417454.1	-	3	189	c.162G>C	c.(160-162)gtG>gtC	p.V54V	CTC-550B14.6_ENST00000585492.1_RNA|CTC-550B14.7_ENST00000586961.1_RNA|GP6_ENST00000333884.2_Silent_p.V54V|GP6_ENST00000310373.3_Silent_p.V54V|CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	54	Ig-like C2-type 1.				blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.V54V(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		GGTACAGGTCCACGCCCGGAG	0.652																																							uc002qik.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(160-162)GTG>GTC		glycoprotein VI (platelet) isoform 2							41.0	45.0	44.0					19																	55543670		1956	4141	6097	SO:0001819	synonymous_variant	51206				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity	g.chr19:55543670C>G	AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14388	protein-coding gene	gene with protein product		605546				11027634	Standard	NM_001083899		Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000417454.1:c.162G>C	19.37:g.55543670C>G						GP6_uc002qil.2_Silent_p.V54V|GP6_uc010esq.2_Silent_p.V54V|RDH13_uc010esr.1_Intron	p.V54V	NM_016363	NP_057447	Q9HCN6	GPVI_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)	3	190	-			54			Ig-like C2-type 1.|Extracellular (Potential).		Q9HCN7|Q9UIF2	Silent	SNP	ENST00000417454.1	37	c.162G>C	CCDS46184.1																																																																																				0.652	GP6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357006.1			52	44	0	0	0	0.01441	0	52	44				
NLRP8	126205	broad.mit.edu	37	19	56490839	56490839	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:56490839C>A	ENST00000291971.3	+	9	3027	c.2956C>A	c.(2956-2958)Ctg>Atg	p.L986M	NLRP8_ENST00000590542.1_Missense_Mutation_p.L967M	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	986					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.L986M(2)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCTGAGACATCTGGACTTGAG	0.488																																							uc002qmh.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(2956-2958)CTG>ATG		NLR family, pyrin domain containing 8							143.0	135.0	138.0					19																	56490839		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56490839C>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2956C>A	19.37:g.56490839C>A	ENSP00000291971:p.Leu986Met					NLRP8_uc010etg.2_Missense_Mutation_p.L967M	p.L986M	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	9	3027	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	986			LRR 6.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.2956C>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.510678	0.27036	.	.	ENSG00000179709	ENST00000291971	T	0.70869	-0.52	2.03	2.03	0.26663	.	.	.	.	.	T	0.82102	0.4964	M	0.82517	2.595	0.09310	N	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.98	T	0.67321	-0.5700	9	0.49607	T	0.09	.	7.6728	0.28468	0.0:1.0:0.0:0.0	.	967;986	Q86W28-2;Q86W28	.;NALP8_HUMAN	M	986	ENSP00000291971:L986M	ENSP00000291971:L986M	L	+	1	2	NLRP8	61182651	0.761000	0.28439	0.008000	0.14137	0.007000	0.05969	1.320000	0.33666	1.465000	0.48006	0.603000	0.83216	CTG		0.488	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		97	94	1	0	8.92586e-32	0.01441	1.20861e-31	97	94				
C2orf48	348738	broad.mit.edu	37	2	10350487	10350487	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:10350487G>A	ENST00000381786.3	+	4	533	c.244G>A	c.(244-246)Gcc>Acc	p.A82T		NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN	chromosome 2 open reading frame 48	82								p.A82T(2)		endometrium(1)|lung(7)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		GAGAAGCCCAGCCCTCATTGT	0.522																																							uc002rai.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(244-246)GCC>ACC		hypothetical protein LOC348738							64.0	66.0	65.0					2																	10350487		2203	4300	6503	SO:0001583	missense	348738							g.chr2:10350487G>A	AK057831	CCDS1670.1	2p25.1	2006-09-01			ENSG00000163009	ENSG00000163009			26322	protein-coding gene	gene with protein product						12477932	Standard	NM_182626		Approved	FLJ25102	uc021vds.1	Q96LS8	OTTHUMG00000119017	ENST00000381786.3:c.244G>A	2.37:g.10350487G>A	ENSP00000371205:p.Ala82Thr						p.A82T	NM_182626	NP_872432	Q96LS8	CB048_HUMAN		Epithelial(75;0.188)	4	533	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		82						Missense_Mutation	SNP	ENST00000381786.3	37	c.244G>A	CCDS1670.1	.	.	.	.	.	.	.	.	.	.	G	9.003	0.980663	0.18812	.	.	ENSG00000163009	ENST00000381786	T	0.38401	1.14	1.51	0.604	0.17547	.	.	.	.	.	T	0.15089	0.0364	N	0.08118	0	0.09310	N	1	P	0.34587	0.458	B	0.28232	0.087	T	0.15178	-1.0446	9	0.87932	D	0	.	3.8871	0.09103	0.2374:0.0:0.7626:0.0	.	82	Q96LS8	CB048_HUMAN	T	82	ENSP00000371205:A82T	ENSP00000371205:A82T	A	+	1	0	C2orf48	10267938	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	-0.131000	0.10482	0.195000	0.20347	-0.275000	0.10095	GCC		0.522	C2orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239217.1	NM_182626		57	99	0	0	0	0.01441	0	57	99				
WDR35	57539	broad.mit.edu	37	2	20153619	20153619	+	Missense_Mutation	SNP	C	C	A	rs146380332		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:20153619C>A	ENST00000345530.3	-	13	1524	c.1409G>T	c.(1408-1410)cGg>cTg	p.R470L	WDR35_ENST00000416055.2_Missense_Mutation_p.R35L|WDR35_ENST00000281405.4_Missense_Mutation_p.R459L	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	470					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)		p.R470L(2)|p.R470Q(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTTCGAGACCGTGTGATCTG	0.378																																							uc002rdi.2		NA																	3	Substitution - Missense(3)		lung(2)|kidney(1)	ovary(1)	1						c.(1408-1410)CGG>CTG		WD repeat domain 35 isoform 1							222.0	209.0	213.0					2																	20153619		2203	4300	6503	SO:0001583	missense	57539							g.chr2:20153619C>A	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.1409G>T	2.37:g.20153619C>A	ENSP00000314444:p.Arg470Leu					WDR35_uc002rdj.2_Missense_Mutation_p.R459L|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Missense_Mutation_p.R35L|WDR35_uc002rdk.3_Missense_Mutation_p.R35L	p.R470L	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN			13	1517	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		470					B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	37	c.1409G>T	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035758	0.54896	.	.	ENSG00000118965	ENST00000345530;ENST00000281405;ENST00000416055;ENST00000453014	D;D;D;D	0.95482	-3.72;-3.72;-3.72;-2.07	5.65	5.65	0.86999	.	0.111526	0.64402	D	0.000018	D	0.90926	0.7148	L	0.29908	0.895	0.53005	D	0.999964	B;B;B;B	0.32573	0.076;0.376;0.046;0.052	B;B;B;B	0.28011	0.085;0.082;0.031;0.014	D	0.89048	0.3453	10	0.10111	T	0.7	-9.7278	18.7155	0.91673	0.0:1.0:0.0:0.0	.	470;459;470;35	F8WB94;Q9P2L0-2;Q9P2L0;B3KR94	.;.;WDR35_HUMAN;.	L	470;459;35;5	ENSP00000314444:R470L;ENSP00000281405:R459L;ENSP00000399159:R35L;ENSP00000404409:R5L	ENSP00000281405:R459L	R	-	2	0	WDR35	20017100	1.000000	0.71417	0.990000	0.47175	0.993000	0.82548	4.648000	0.61425	2.672000	0.90937	0.561000	0.74099	CGG		0.378	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		34	204	1	0	2.80507e-11	0.012213	3.28235e-11	34	204				
DRC1	92749	broad.mit.edu	37	2	26676417	26676417	+	Splice_Site	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:26676417G>T	ENST00000288710.2	+	14	1993	c.1919G>T	c.(1918-1920)aGg>aTg	p.R640M		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	640					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.R640M(2)									AAGAAGCCTAGGTGGGCTGCG	0.612																																							uc002rhg.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1918-1920)AGG>ATG		hypothetical protein LOC92749							41.0	44.0	43.0					2																	26676417		2203	4300	6503	SO:0001630	splice_region_variant	92749							g.chr2:26676417G>T	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.1919+1G>T	2.37:g.26676417G>T							p.R640M	NM_145038	NP_659475	Q96MC2	CC164_HUMAN			14	1993	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		640					A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	ENST00000288710.2	37	c.1919G>T	CCDS1723.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.725182	0.48833	.	.	ENSG00000157856	ENST00000288710	T	0.15718	2.4	5.03	4.14	0.48551	.	0.098699	0.64402	D	0.000003	T	0.40448	0.1117	M	0.78637	2.42	0.34910	D	0.747393	D	0.89917	1.0	D	0.71656	0.974	T	0.58014	-0.7711	10	0.66056	D	0.02	-26.0624	11.8046	0.52147	0.0889:0.0:0.9111:0.0	.	640	Q96MC2	CC164_HUMAN	M	640	ENSP00000288710:R640M	ENSP00000288710:R640M	R	+	2	0	CCDC164	26529921	1.000000	0.71417	0.997000	0.53966	0.177000	0.22998	3.531000	0.53546	1.228000	0.43614	0.609000	0.83330	AGG		0.612	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038	Missense_Mutation	13	67	1	0	1.3612e-06	0.003163	1.4884e-06	13	67				
ALK	238	broad.mit.edu	37	2	29519878	29519878	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:29519878A>G	ENST00000389048.3	-	9	2599	c.1693T>C	c.(1693-1695)Tcc>Ccc	p.S565P	ALK_ENST00000498037.1_5'UTR|ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	565	MAM 2. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S565P(2)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	AGCACCAAGGACACGTTTCCC	0.547			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														uc002rmy.2		NA	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	T|Mis|A	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218						c.(1693-1695)TCC>CCC		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						153.0	121.0	132.0					2																	29519878		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29519878A>G	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1693T>C	2.37:g.29519878A>G	ENSP00000373700:p.Ser565Pro						p.S565P	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			9	2600	-	Acute lymphoblastic leukemia(172;0.155)		565			MAM 2.|Extracellular (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.1693T>C	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.466120	0.84425	.	.	ENSG00000171094	ENST00000389048	T	0.02323	4.34	5.2	5.2	0.72013	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	0.000000	0.45867	U	0.000329	T	0.08088	0.0202	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.44498	-0.9324	9	.	.	.	.	12.4686	0.55773	1.0:0.0:0.0:0.0	.	565	Q9UM73	ALK_HUMAN	P	565	ENSP00000373700:S565P	.	S	-	1	0	ALK	29373382	1.000000	0.71417	0.931000	0.37212	0.993000	0.82548	5.646000	0.67916	1.962000	0.57031	0.460000	0.39030	TCC		0.547	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		16	117	0	0	0	0.00499	0	16	117				
HEATR5B	54497	broad.mit.edu	37	2	37302747	37302747	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:37302747G>A	ENST00000233099.5	-	5	573	c.478C>T	c.(478-480)Cta>Tta	p.L160L	HEATR5B_ENST00000354531.2_Silent_p.L160L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	160						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.L160L(2)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ACTTTCTGTAGACTCATTAAG	0.388																																							uc002rpp.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(5)|skin(2)|breast(1)	8						c.(478-480)CTA>TTA		HEAT repeat containing 5B							161.0	144.0	150.0					2																	37302747		2203	4300	6503	SO:0001819	synonymous_variant	54497						binding	g.chr2:37302747G>A	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.478C>T	2.37:g.37302747G>A							p.L160L	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			5	574	-		all_hematologic(82;0.21)	160					B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	c.478C>T	CCDS33181.1																																																																																				0.388	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		48	174	0	0	0	0.01441	0	48	174				
CYP1B1	1545	broad.mit.edu	37	2	38297933	38297933	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:38297933G>C	ENST00000260630.3	-	3	1965	c.1564C>G	c.(1564-1566)Ctc>Gtc	p.L522V	CYP1B1_ENST00000494864.1_5'UTR|CYP1B1_ENST00000407341.1_Missense_Mutation_p.L522V	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	522					angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|blood vessel morphogenesis (GO:0048514)|cell adhesion (GO:0007155)|cellular aromatic compound metabolic process (GO:0006725)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to organic cyclic compound (GO:0071407)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell-cell adhesion (GO:0071603)|epoxygenase P450 pathway (GO:0019373)|estrogen metabolic process (GO:0008210)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|membrane lipid catabolic process (GO:0046466)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nitric oxide biosynthetic process (GO:0006809)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to toxic substance (GO:0009636)|retinal blood vessel morphogenesis (GO:0061304)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|toxin metabolic process (GO:0009404)|trabecular meshwork development (GO:0002930)|visual perception (GO:0007601)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.L522V(2)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Biotin(DB00121)|Caffeine(DB00201)|Clozapine(DB00363)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Flutamide(DB00499)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Melatonin(DB01065)|Mitoxantrone(DB01204)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Primaquine(DB01087)|Procarbazine(DB01168)|Progesterone(DB00396)|Propofol(DB00818)|Tamoxifen(DB00675)|Testosterone(DB00624)|Theophylline(DB00277)	GACTCTCTGAGAGTGACATTG	0.408																																							uc002rqo.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1564-1566)CTC>GTC		cytochrome P450, family 1, subfamily B,	Estrone(DB00655)						99.0	102.0	101.0					2																	38297933		2203	4300	6503	SO:0001583	missense	1545				visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr2:38297933G>C	U56438	CCDS1793.1	2p22.2	2008-02-05	2003-01-14		ENSG00000138061	ENSG00000138061		"""Cytochrome P450s"""	2597	protein-coding gene	gene with protein product		601771	"""cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)"""	GLC3A		8175734, 15128046	Standard	NM_000104		Approved	CP1B	uc002rqo.2	Q16678	OTTHUMG00000100970	ENST00000260630.3:c.1564C>G	2.37:g.38297933G>C	ENSP00000260630:p.Leu522Val						p.L522V	NM_000104	NP_000095	Q16678	CP1B1_HUMAN			4	1967	-		all_hematologic(82;0.21)	522					Q5TZW8|Q93089|Q9H316	Missense_Mutation	SNP	ENST00000260630.3	37	c.1564C>G	CCDS1793.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708099	0.48412	.	.	ENSG00000138061	ENST00000260630;ENST00000407341	T;T	0.79247	-1.25;-1.25	5.84	4.96	0.65561	.	0.139643	0.48286	D	0.000198	T	0.77412	0.4126	M	0.80508	2.5	0.34429	D	0.698273	P	0.36378	0.55	B	0.35278	0.199	D	0.83688	0.0175	10	0.39692	T	0.17	.	13.087	0.59146	0.0792:0.0:0.9208:0.0	.	522	Q53TK1	.	V	522	ENSP00000260630:L522V;ENSP00000384972:L522V	ENSP00000260630:L522V	L	-	1	0	CYP1B1	38151437	1.000000	0.71417	0.948000	0.38648	0.947000	0.59692	5.083000	0.64456	2.754000	0.94517	0.655000	0.94253	CTC		0.408	CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218580.3	NM_000104		54	123	0	0	0	0.01441	0	54	123				
EML4	27436	broad.mit.edu	37	2	42530318	42530318	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:42530318A>G	ENST00000318522.5	+	15	1978	c.1716A>G	c.(1714-1716)cgA>cgG	p.R572R	EML4_ENST00000453191.2_5'UTR|EML4_ENST00000401738.3_Silent_p.R583R|EML4_ENST00000402711.2_Silent_p.R514R	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	572					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)		p.R572R(2)	EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						GCACATCACGAAACTTTATTT	0.348			T	ALK	NSCLC																																		uc002rsi.2		NA		Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(246)	2	Substitution - coding silent(2)		lung(2)	lung(246)|ovary(2)|central_nervous_system(1)|skin(1)	250						c.(1714-1716)CGA>CGG		echinoderm microtubule associated protein like 4							143.0	146.0	145.0					2																	42530318		2203	4300	6503	SO:0001819	synonymous_variant	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42530318A>G	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.1716A>G	2.37:g.42530318A>G						EML4_uc010fap.2_Silent_p.R514R|EML4_uc002rsj.2_Silent_p.R261R|EML4_uc010faq.2_5'UTR|EML4_uc010ynv.1_5'UTR	p.R572R	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN			15	1978	+			572					A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Silent	SNP	ENST00000318522.5	37	c.1716A>G	CCDS1807.1																																																																																				0.348	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		28	165	0	0	0	0.007291	0	28	165				
COX7A2L	9167	broad.mit.edu	37	2	42578436	42578436	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:42578436T>A	ENST00000378669.1	-	4	1097	c.268A>T	c.(268-270)Acc>Tcc	p.T90S	COX7A2L_ENST00000234301.2_Missense_Mutation_p.T90S|COX7A2L_ENST00000482463.1_5'UTR			O14548	COX7R_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 like	90					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)	p.T90S(2)		lung(4)	4						AGCGCCATGGTGGTCCGGTAA	0.522																																							uc002rsk.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(268-270)ACC>TCC		cytochrome c oxidase subunit VIIa polypeptide 2							94.0	79.0	84.0					2																	42578436		2203	4300	6503	SO:0001583	missense	9167				respiratory electron transport chain	mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity	g.chr2:42578436T>A	AB007618	CCDS1808.1	2p21	2010-06-14			ENSG00000115944	ENSG00000115944			2289	protein-coding gene	gene with protein product		605771				9418891	Standard	NM_004718		Approved	EB1, COX7RP, COX7AR, SIG81	uc002rsk.3	O14548	OTTHUMG00000128605	ENST00000378669.1:c.268A>T	2.37:g.42578436T>A	ENSP00000367938:p.Thr90Ser					COX7A2L_uc002rsl.2_RNA	p.T90S	NM_004718	NP_004709	O14548	COX7R_HUMAN			3	323	-			90					Q9P118	Missense_Mutation	SNP	ENST00000378669.1	37	c.268A>T	CCDS1808.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.349211	0.82132	.	.	ENSG00000115944	ENST00000378669;ENST00000234301	T;T	0.62105	0.05;0.05	5.39	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.79759	0.4501	M	0.90759	3.145	0.46954	D	0.999263	D	0.58970	0.984	P	0.62382	0.901	T	0.82410	-0.0471	10	0.72032	D	0.01	-6.1797	11.577	0.50866	0.0:0.0:0.1499:0.85	.	90	O14548	COX7R_HUMAN	S	90	ENSP00000367938:T90S;ENSP00000234301:T90S	ENSP00000234301:T90S	T	-	1	0	COX7A2L	42431940	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.569000	0.82380	0.856000	0.35383	-0.313000	0.08912	ACC		0.522	COX7A2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250466.3	NM_004718		28	53	0	0	0	0.007291	0	28	53				
THADA	63892	broad.mit.edu	37	2	43768305	43768305	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:43768305A>T	ENST00000405006.4	-	21	3608	c.3257T>A	c.(3256-3258)gTg>gAg	p.V1086E	THADA_ENST00000405975.2_Missense_Mutation_p.V1086E|THADA_ENST00000415080.2_Missense_Mutation_p.V796E|THADA_ENST00000330266.7_Missense_Mutation_p.V796E	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1086								p.V1086E(2)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TACCTGCTCCACCGTCAATAA	0.388																																							uc002rsw.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(3256-3258)GTG>GAG		thyroid adenoma associated							90.0	85.0	87.0					2																	43768305		1923	4145	6068	SO:0001583	missense	63892						binding	g.chr2:43768305A>T	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.3257T>A	2.37:g.43768305A>T	ENSP00000385995:p.Val1086Glu					THADA_uc010far.2_Missense_Mutation_p.V355E|THADA_uc002rsx.3_Missense_Mutation_p.V1086E|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Missense_Mutation_p.V795E|THADA_uc010fat.1_Missense_Mutation_p.V233E|THADA_uc002rta.2_Missense_Mutation_p.V796E	p.V1086E	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN			21	3609	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	1086					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.3257T>A	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.420|9.420	1.082803|1.082803	0.20309|0.20309	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006|ENST00000407351	T;T;T;T|.	0.61742|.	0.08;0.08;0.08;0.08|.	5.91|5.91	1.87|1.87	0.25490|0.25490	Domain of unknown function DUF2428, death-receptor-like (1);Armadillo-type fold (1);|.	0.284058|.	0.33591|.	N|.	0.004755|.	T|T	0.53367|0.53367	0.1792|0.1792	L|L	0.41356|0.41356	1.27|1.27	0.38815|0.38815	D|D	0.955512|0.955512	B;B;B;B|.	0.22276|.	0.018;0.067;0.013;0.032|.	B;B;B;B|.	0.26202|.	0.019;0.028;0.032;0.067|.	T|T	0.45644|0.45644	-0.9247|-0.9247	10|5	0.49607|.	T|.	0.09|.	.|.	11.0932|11.0932	0.48128|0.48128	0.5933:0.0:0.0:0.4067|0.5933:0.0:0.0:0.4067	.|.	796;1087;796;1086|.	Q6YHU6-2;B6ZDQ0;C9JJB1;Q6YHU6|.	.;.;.;THADA_HUMAN|.	E|R	796;1086;1087;796;1086|400	ENSP00000331105:V796E;ENSP00000386088:V1086E;ENSP00000416048:V796E;ENSP00000385995:V1086E|.	ENSP00000331105:V796E|.	V|W	-|-	2|1	0|0	THADA|THADA	43621809|43621809	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.861000|0.861000	0.49209|0.49209	1.188000|1.188000	0.32102|0.32102	0.046000|0.046000	0.15833|0.15833	0.533000|0.533000	0.62120|0.62120	GTG|TGG		0.388	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		34	66	0	0	0	0.010818	0	34	66				
SRBD1	55133	broad.mit.edu	37	2	45616530	45616530	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:45616530G>A	ENST00000263736.4	-	21	2969	c.2907C>T	c.(2905-2907)ccC>ccT	p.P969P	SRBD1_ENST00000490133.1_5'UTR|SRBD1_ENST00000535761.1_Silent_p.P488P	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	969	S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.				nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			CTCTTTCTCCGGGGCCCAGTC	0.468																																							uc002rus.2		NA																	0				central_nervous_system(1)	1						c.(2905-2907)CCC>CCT		S1 RNA binding domain 1							91.0	92.0	91.0					2																	45616530		2203	4300	6503	SO:0001819	synonymous_variant	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45616530G>A	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.2907C>T	2.37:g.45616530G>A						SRBD1_uc010yoc.1_Silent_p.P488P	p.P969P	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		21	2983	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	969			S1 motif.		Q53T56|Q96TA4|Q9NW11	Silent	SNP	ENST00000263736.4	37	c.2907C>T	CCDS1823.1																																																																																				0.468	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		4	134	0	0	0	0.009096	0	4	134				
TTC7A	57217	broad.mit.edu	37	2	47256494	47256495	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:47256494_47256495GG>TT	ENST00000319190.5	+	15	2141_2142	c.1773_1774GG>TT	c.(1771-1776)atGGcc>atTTcc	p.591_592MA>IS	TTC7A_ENST00000394850.2_Missense_Mutation_p.591_592MA>IS|TTC7A_ENST00000263737.6_Missense_Mutation_p.237_238MA>IS|TTC7A_ENST00000409245.1_Missense_Mutation_p.557_558MA>IS|TTC7A_ENST00000461601.1_3'UTR	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	591					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)			p.M591I(1)|p.M591_A592>IS(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TTGTCAACATGGCCATCACCGA	0.619																																							uc002rvo.2		NA																	2	Substitution - Missense(1)|Complex - compound substitution(1)		lung(2)	breast(1)|skin(1)	2						c.(1771-1776)ATGGCC>ATTTCC		tetratricopeptide repeat domain 7A																																				SO:0001583	missense	57217						binding	g.chr2:47256494_47256495GG>TT	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	Exception_encountered	2.37:g.47256494_47256495delinsTT	ENSP00000316699:p.M591_A592delinsIS					TTC7A_uc002rvm.2_Missense_Mutation_p.557_558MA>IS|TTC7A_uc002rvn.1_Missense_Mutation_p.472_473MA>IS|TTC7A_uc010fbb.2_Missense_Mutation_p.591_592MA>IS|TTC7A_uc010fbc.2_Missense_Mutation_p.237_238MA>IS|TTC7A_uc002rvp.2_Missense_Mutation_p.472_473MA>IS|TTC7A_uc002rvq.2_Missense_Mutation_p.331_332MA>IS|TTC7A_uc002rvr.2_Missense_Mutation_p.40_41MA>IS	p.591_592MA>IS	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		15	2141_2142	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	591_592			TPR 6.		Q6PIX4|Q8ND67|Q9BUS3	Missense_Mutation	DNP	ENST00000319190.5	37	c.1773_1774GG>TT	CCDS33193.1																																																																																				0.619	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		51	137	0	0	0	0.004672	0	51	137				
RTN4	57142	broad.mit.edu	37	2	55253145	55253145	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:55253145A>G	ENST00000337526.6	-	3	2333	c.2090T>C	c.(2089-2091)aTt>aCt	p.I697T	RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.I491T|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000405240.1_Missense_Mutation_p.I491T|RTN4_ENST00000404909.1_Missense_Mutation_p.I491T|RTN4_ENST00000354474.6_Missense_Mutation_p.I465T|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.I491T	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	697					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.I491T(2)|p.I697T(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						ATCACATGCAATAGATATATA	0.343																																							uc002rye.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)|large_intestine(1)	3						c.(2089-2091)ATT>ACT		reticulon 4 isoform A							54.0	62.0	59.0					2																	55253145		2195	4294	6489	SO:0001583	missense	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55253145A>G	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.2090T>C	2.37:g.55253145A>G	ENSP00000337838:p.Ile697Thr					RTN4_uc002ryd.2_Missense_Mutation_p.I491T|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron	p.I697T	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN			3	2388	-			697			Cytoplasmic (Potential).		O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	c.2090T>C	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	A	17.15	3.317192	0.60524	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.52	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000001	T	0.52386	0.1731	M	0.71581	2.175	0.44055	D	0.996794	D	0.76494	0.999	P	0.60682	0.878	T	0.55483	-0.8134	10	0.62326	D	0.03	-9.2383	16.0039	0.80344	1.0:0.0:0.0:0.0	.	697	Q9NQC3	RTN4_HUMAN	T	491;491;697;491;491;465	ENSP00000384471:I491T;ENSP00000349944:I491T;ENSP00000337838:I697T;ENSP00000378109:I491T;ENSP00000385650:I491T;ENSP00000346465:I465T	ENSP00000337838:I697T	I	-	2	0	RTN4	55106649	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.409000	0.73289	2.176000	0.68965	0.533000	0.62120	ATT		0.343	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			52	107	0	0	0	0.01441	0	52	107				
RTN4	57142	broad.mit.edu	37	2	55253716	55253716	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:55253716C>T	ENST00000337526.6	-	3	1762	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K	RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.E301K|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000405240.1_Missense_Mutation_p.E301K|RTN4_ENST00000404909.1_Missense_Mutation_p.E301K|RTN4_ENST00000354474.6_Missense_Mutation_p.E275K|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.E301K	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	507					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.E301K(2)|p.E507K(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						GTATTCTTCTCTGTTACTATT	0.353																																							uc002rye.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)|large_intestine(1)	3						c.(1519-1521)GAG>AAG		reticulon 4 isoform A							143.0	137.0	139.0					2																	55253716		2203	4299	6502	SO:0001583	missense	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55253716C>T	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.1519G>A	2.37:g.55253716C>T	ENSP00000337838:p.Glu507Lys					RTN4_uc002ryd.2_Missense_Mutation_p.E301K|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron	p.E507K	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN			3	1817	-			507			Cytoplasmic (Potential).		O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	c.1519G>A	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121792	0.77436	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.22336	1.96;1.96;2.2;1.96;1.96;1.99	6.06	6.06	0.98353	.	1.085270	0.06995	N	0.822253	T	0.41811	0.1175	M	0.64997	1.995	0.35150	D	0.769654	D	0.62365	0.991	P	0.51016	0.656	T	0.47209	-0.9135	10	0.42905	T	0.14	-9.5496	20.6244	0.99512	0.0:1.0:0.0:0.0	.	507	Q9NQC3	RTN4_HUMAN	K	301;301;507;301;301;275	ENSP00000384471:E301K;ENSP00000349944:E301K;ENSP00000337838:E507K;ENSP00000378109:E301K;ENSP00000385650:E301K;ENSP00000346465:E275K	ENSP00000337838:E507K	E	-	1	0	RTN4	55107220	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.359000	0.66074	2.879000	0.98667	0.650000	0.86243	GAG		0.353	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			33	153	0	0	0	0.015359	0	33	153				
AFTPH	54812	broad.mit.edu	37	2	64808353	64808353	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:64808353G>C	ENST00000422803.1	+	8	2799	c.2485G>C	c.(2485-2487)Gat>Cat	p.D829H	AFTPH_ENST00000487769.1_Intron|AFTPH_ENST00000238855.7_Missense_Mutation_p.D829H|RNU6-100P_ENST00000516605.1_RNA|AFTPH_ENST00000409183.1_Missense_Mutation_p.D460H|AFTPH_ENST00000409933.1_Missense_Mutation_p.D829H|AFTPH_ENST00000238856.4_Intron			Q6ULP2	AFTIN_HUMAN	aftiphilin	829	Clathrin-binding. {ECO:0000255}.				protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)	p.D829H(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TCTGAACCTTGATTTCTTTGG	0.478																																							uc002sdc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2485-2487)GAT>CAT		aftiphilin protein isoform a							84.0	84.0	84.0					2																	64808353		1949	4147	6096	SO:0001583	missense	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64808353G>C	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.2485G>C	2.37:g.64808353G>C	ENSP00000397726:p.Asp829His					AFTPH_uc002scz.2_Missense_Mutation_p.D829H|AFTPH_uc002sda.2_Intron|AFTPH_uc002sdb.2_Intron	p.D829H	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN			7	2517	+			829			Clathrin-binding (Potential).		D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37	c.2485G>C		.	.	.	.	.	.	.	.	.	.	G	18.31	3.596190	0.66332	.	.	ENSG00000119844	ENST00000422803;ENST00000238855;ENST00000409933;ENST00000409183	T;T;T;T	0.70045	0.67;0.66;0.66;-0.45	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000002	D	0.82375	0.5023	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.83575	0.0114	10	0.87932	D	0	-14.1837	18.2426	0.89973	0.0:0.0:1.0:0.0	.	829;829	Q6ULP2;Q6ULP2-4	AFTIN_HUMAN;.	H	829;829;829;460	ENSP00000397726:D829H;ENSP00000238855:D829H;ENSP00000387071:D829H;ENSP00000386913:D460H	ENSP00000238855:D829H	D	+	1	0	AFTPH	64661857	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.756000	0.91651	2.750000	0.94351	0.655000	0.94253	GAT		0.478	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		3	30	0	0	0	0.004672	0	3	30				
ANTXR1	84168	broad.mit.edu	37	2	69304605	69304605	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:69304605A>G	ENST00000303714.4	+	8	949	c.627A>G	c.(625-627)caA>caG	p.Q209Q	ANTXR1_ENST00000409349.3_Silent_p.Q209Q|ANTXR1_ENST00000409829.3_Silent_p.Q209Q	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	209	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)	p.Q209Q(4)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AGGCTCTGCAAGGCATCATCC	0.488									Familial Infantile Hemangioma																														uc002sfg.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(2)|skin(2)	4						c.(625-627)CAA>CAG		anthrax toxin receptor 1 isoform 1 precursor							187.0	160.0	169.0					2																	69304605		2203	4300	6503	SO:0001819	synonymous_variant	84168	Familial_Infantile_Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69304605A>G	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.627A>G	2.37:g.69304605A>G						ANTXR1_uc002sfe.2_Silent_p.Q209Q|ANTXR1_uc002sff.2_Silent_p.Q209Q|ANTXR1_uc002sfd.2_Silent_p.Q209Q	p.Q209Q	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN			8	983	+			209			Extracellular (Potential).|VWFA.		A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Silent	SNP	ENST00000303714.4	37	c.627A>G	CCDS1892.1	.	.	.	.	.	.	.	.	.	.	A	9.601	1.128760	0.21041	.	.	ENSG00000169604	ENST00000482235	.	.	.	5.39	-1.64	0.08318	.	.	.	.	.	T	0.55257	0.1909	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50980	-0.8763	4	.	.	.	-15.761	9.908	0.41388	0.5736:0.0:0.4264:0.0	.	.	.	.	R	41	.	.	K	+	2	0	ANTXR1	69158109	0.985000	0.35326	0.996000	0.52242	0.995000	0.86356	0.244000	0.18124	-0.267000	0.09325	-0.250000	0.11733	AAG		0.488	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		28	228	0	0	0	0.007291	0	28	228				
DCTN1	1639	broad.mit.edu	37	2	74597136	74597136	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:74597136G>C	ENST00000361874.3	-	13	1665	c.1348C>G	c.(1348-1350)Ctg>Gtg	p.L450V	DCTN1_ENST00000407639.2_Missense_Mutation_p.L316V|DCTN1_ENST00000409240.1_Missense_Mutation_p.L413V|DCTN1_ENST00000409567.3_Missense_Mutation_p.L430V|DCTN1_ENST00000394003.3_Missense_Mutation_p.L443V|DCTN1_ENST00000409868.1_Missense_Mutation_p.L433V|DCTN1_ENST00000409438.1_Missense_Mutation_p.L316V|DCTN1_ENST00000495643.1_5'Flank	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	450					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)	p.L450V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TTCTCTTCCAGATTCAGGTTC	0.537																																							uc002skx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(1348-1350)CTG>GTG		dynactin 1 isoform 1							163.0	135.0	145.0					2																	74597136		2203	4300	6503	SO:0001583	missense	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74597136G>C		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.1348C>G	2.37:g.74597136G>C	ENSP00000354791:p.Leu450Val					DCTN1_uc002skv.2_Missense_Mutation_p.L316V|DCTN1_uc002sku.2_Missense_Mutation_p.L316V|DCTN1_uc002skw.1_Missense_Mutation_p.L426V|DCTN1_uc010ffd.2_Missense_Mutation_p.L430V|DCTN1_uc002sky.2_Missense_Mutation_p.L413V	p.L450V	NM_004082	NP_004073	Q14203	DCTN1_HUMAN			13	1659	-			450			Potential.		A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	c.1348C>G	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277351	0.80580	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.77098	-0.95;-0.95;-0.95;-0.95;-0.95;-1.07;-0.95	5.65	5.65	0.86999	.	0.000000	0.34025	N	0.004324	D	0.89733	0.6800	M	0.92026	3.265	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	0.991;1.0;0.993;0.969;0.994;0.996	P;D;D;P;D;D	0.87578	0.783;0.998;0.952;0.757;0.983;0.978	D	0.91107	0.4919	10	0.66056	D	0.02	-5.5433	12.5829	0.56399	0.0797:0.0:0.9203:0.0	.	430;413;450;443;316;316	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	V	450;443;433;316;316;413;433;430	ENSP00000354791:L450V;ENSP00000377571:L443V;ENSP00000384844:L316V;ENSP00000387270:L316V;ENSP00000386406:L413V;ENSP00000387327:L433V;ENSP00000386843:L430V	ENSP00000354791:L450V	L	-	1	2	DCTN1	74450644	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.279000	0.65597	2.659000	0.90383	0.655000	0.94253	CTG		0.537	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		52	229	0	0	0	0.01441	0	52	229				
LRRTM4	80059	broad.mit.edu	37	2	77746613	77746613	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:77746613T>A	ENST00000409093.1	-	3	718	c.382A>T	c.(382-384)Aca>Tca	p.T128S	LRRTM4_ENST00000409282.1_Missense_Mutation_p.T129S|LRRTM4_ENST00000409088.3_Missense_Mutation_p.T128S|LRRTM4_ENST00000409911.1_Missense_Mutation_p.T129S|LRRTM4_ENST00000409884.1_Missense_Mutation_p.T128S			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	128					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.T128S(4)		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)		GGGTGAAATGTTTTATTGTGC	0.378																																							uc002snr.2		NA																	4	Substitution - Missense(4)		lung(4)	pancreas(3)|ovary(1)	4						c.(382-384)ACA>TCA		leucine rich repeat transmembrane neuronal 4							134.0	121.0	125.0					2																	77746613		1837	4086	5923	SO:0001583	missense	80059					integral to membrane		g.chr2:77746613T>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.382A>T	2.37:g.77746613T>A	ENSP00000386357:p.Thr128Ser					LRRTM4_uc002snq.2_Missense_Mutation_p.T128S|LRRTM4_uc002sns.2_Missense_Mutation_p.T128S|LRRTM4_uc002snt.2_Missense_Mutation_p.T129S	p.T128S	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	797	-			128			LRR 3.|Extracellular (Potential).		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.382A>T	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	T	18.23	3.577608	0.65878	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.04234	3.67;3.67;3.67;3.67;3.67	5.96	5.96	0.96718	.	0.048914	0.85682	D	0.000000	T	0.07638	0.0192	N	0.02960	-0.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.59747	-0.7396	10	0.40728	T	0.16	.	15.2517	0.73552	0.0:0.0:0.0:1.0	.	129;128;128	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	S	129;128;128;128;129	ENSP00000387228:T129S;ENSP00000387297:T128S;ENSP00000386357:T128S;ENSP00000386236:T128S;ENSP00000386286:T129S	ENSP00000386236:T128S	T	-	1	0	LRRTM4	77600121	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.948000	0.87774	2.279000	0.76181	0.533000	0.62120	ACA		0.378	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		25	68	0	0	0	0.016522	0	25	68				
EIF2AK3	9451	broad.mit.edu	37	2	88885469	88885469	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:88885469C>G	ENST00000303236.3	-	9	1841	c.1540G>C	c.(1540-1542)Gat>Cat	p.D514H	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.D363H	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	514					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)	p.D514H(2)		ovary(3)	3						AGAACAGGATCCTTTTTGCGG	0.398																																					GBM(138;671 1851 16235 39058 45249)	GBM(138;671 1851 16235 39058 45249)	uc002stc.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1540-1542)GAT>CAT		eukaryotic translation initiation factor 2-alpha							258.0	240.0	246.0					2																	88885469		2203	4300	6503	SO:0001583	missense	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88885469C>G	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.1540G>C	2.37:g.88885469C>G	ENSP00000307235:p.Asp514His						p.D514H	NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN			9	1742	-			514			Lumenal (Potential).		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.1540G>C	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759902	0.89932	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.57752	0.38;0.38;0.38	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.73102	0.3544	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71510	-0.4571	10	0.52906	T	0.07	-23.6762	20.3539	0.98825	0.0:1.0:0.0:0.0	.	514	Q9NZJ5	E2AK3_HUMAN	H	363;514;363;393	ENSP00000408325:D363H;ENSP00000307235:D514H;ENSP00000412076:D393H	ENSP00000307235:D514H	D	-	1	0	EIF2AK3	88666584	1.000000	0.71417	0.991000	0.47740	0.941000	0.58515	6.683000	0.74533	2.826000	0.97356	0.655000	0.94253	GAT		0.398	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		74	140	0	0	0	0.01441	0	74	140				
INPP4A	3631	broad.mit.edu	37	2	99193584	99193584	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:99193584C>T	ENST00000523221.1	+	23	2779	c.2779C>T	c.(2779-2781)Cag>Tag	p.Q927*	INPP4A_ENST00000409540.3_Nonsense_Mutation_p.Q888*|INPP4A_ENST00000074304.5_Nonsense_Mutation_p.Q927*|INPP4A_ENST00000409463.1_Nonsense_Mutation_p.Q256*|INPP4A_ENST00000409851.3_Nonsense_Mutation_p.Q922*|INPP4A_ENST00000545415.1_Nonsense_Mutation_p.Q888*|INPP4A_ENST00000409016.4_Nonsense_Mutation_p.Q888*			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	927					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.Q888*(2)|p.Q927*(2)		breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GGTCTTCACCCAGGCCCTGGA	0.662																																							uc002syy.2		NA																	4	Substitution - Nonsense(4)		lung(4)	kidney(1)	1						c.(2779-2781)CAG>TAG		inositol polyphosphate-4-phosphatase, type 1							26.0	30.0	29.0					2																	99193584		2122	4236	6358	SO:0001587	stop_gained	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99193584C>T	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.2779C>T	2.37:g.99193584C>T	ENSP00000427722:p.Gln927*					INPP4A_uc010yvj.1_Nonsense_Mutation_p.Q888*|INPP4A_uc010yvk.1_Nonsense_Mutation_p.Q888*|INPP4A_uc002syx.2_Nonsense_Mutation_p.Q922*|INPP4A_uc010fik.2_Nonsense_Mutation_p.Q256*	p.Q927*	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN			25	3172	+			927					O15326|Q13187|Q53TD8|Q8TC02	Nonsense_Mutation	SNP	ENST00000523221.1	37	c.2779C>T	CCDS46369.1	.	.	.	.	.	.	.	.	.	.	C	44	10.937581	0.99491	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000409463;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	.	.	.	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-21.3341	16.8264	0.85933	0.0:1.0:0.0:0.0	.	.	.	.	X	888;922;256;927;888;888;927	.	ENSP00000074304:Q927X	Q	+	1	0	INPP4A	98560016	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.651000	0.83577	2.460000	0.83146	0.462000	0.41574	CAG		0.662	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		26	32	0	0	0	0.01892	0	26	32				
AFF3	3899	broad.mit.edu	37	2	100210522	100210522	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:100210522C>T	ENST00000409236.2	-	13	1713	c.1601G>A	c.(1600-1602)aGg>aAg	p.R534K	AFF3_ENST00000356421.2_Missense_Mutation_p.R559K|AFF3_ENST00000409579.1_Missense_Mutation_p.R559K|AFF3_ENST00000317233.4_Missense_Mutation_p.R534K			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	534					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.R559K(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GTTGGCTGTCCTTGGCCTTTG	0.647																																							uc002tag.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.(1600-1602)AGG>AAG		AF4/FMR2 family, member 3 isoform 1							107.0	95.0	99.0					2																	100210522		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100210522C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1601G>A	2.37:g.100210522C>T	ENSP00000387207:p.Arg534Lys					AFF3_uc002taf.2_Missense_Mutation_p.R559K|AFF3_uc010fiq.1_Missense_Mutation_p.R534K|AFF3_uc010yvr.1_Missense_Mutation_p.R687K|AFF3_uc002tah.1_Missense_Mutation_p.R559K	p.R534K	NM_002285	NP_002276	P51826	AFF3_HUMAN			14	1837	-			534					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.1601G>A	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.728186	0.69074	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000007	T	0.77718	0.4172	L	0.45470	1.425	0.47698	D	0.999494	D;B;D	0.76494	0.999;0.449;0.998	D;B;D	0.72625	0.978;0.426;0.915	T	0.72846	-0.4169	10	0.30854	T	0.27	.	20.0006	0.97406	0.0:1.0:0.0:0.0	.	687;534;559	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	K	534;559;559;534;534;687;559	ENSP00000317421:R534K;ENSP00000348793:R559K;ENSP00000386834:R559K;ENSP00000387207:R534K	ENSP00000317421:R534K	R	-	2	0	AFF3	99576954	0.997000	0.39634	0.960000	0.40013	0.354000	0.29330	5.258000	0.65479	2.734000	0.93682	0.591000	0.81541	AGG		0.647	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		131	192	0	0	0	0.01441	0	131	192				
NMS	129521	broad.mit.edu	37	2	101093874	101093874	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:101093874G>A	ENST00000376865.1	+	5	266	c.259G>A	c.(259-261)Ggg>Agg	p.G87R		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	87					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.G87R(2)		breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						AGTTAAAACTGGGGTCAGTAT	0.383																																							uc002tan.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(259-261)GGG>AGG		neuromedin S precursor							75.0	71.0	73.0					2																	101093874		2203	4300	6503	SO:0001583	missense	129521				neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region		g.chr2:101093874G>A	AB164464	CCDS33259.1	2q11.2	2013-02-26			ENSG00000204640	ENSG00000204640		"""Endogenous ligands"""	32203	protein-coding gene	gene with protein product	"""prepro-NMS"""					15635449	Standard	NM_001011717		Approved		uc002tan.1	Q5H8A3	OTTHUMG00000153142	ENST00000376865.1:c.259G>A	2.37:g.101093874G>A	ENSP00000366061:p.Gly87Arg						p.G87R	NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN			5	266	+			87						Missense_Mutation	SNP	ENST00000376865.1	37	c.259G>A	CCDS33259.1	.	.	.	.	.	.	.	.	.	.	G	4.032	0.003558	0.07866	.	.	ENSG00000204640	ENST00000376865	T	0.21191	2.02	4.77	0.933	0.19471	.	0.738248	0.12435	N	0.469240	T	0.17066	0.0410	L	0.54323	1.7	0.09310	N	1	B	0.14805	0.011	B	0.15052	0.012	T	0.26395	-1.0104	10	0.46703	T	0.11	-1.2712	3.1707	0.06551	0.2967:0.0:0.5152:0.1881	.	87	Q5H8A3	NMS_HUMAN	R	87	ENSP00000366061:G87R	ENSP00000366061:G87R	G	+	1	0	NMS	100460306	0.887000	0.30362	0.066000	0.19879	0.263000	0.26337	1.531000	0.36018	0.311000	0.23014	-0.182000	0.12963	GGG		0.383	NMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329737.1	NM_001011717		18	65	0	0	0	0.012319	0	18	65				
IL1R1	3554	broad.mit.edu	37	2	102785058	102785058	+	Splice_Site	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:102785058A>C	ENST00000410023.1	+	7	974	c.656A>C	c.(655-657)gAg>gCg	p.E219A	IL1R1_ENST00000409329.1_Splice_Site_p.E219A|IL1R1_ENST00000409929.1_Splice_Site_p.E219A|IL1R1_ENST00000424272.1_Splice_Site_p.E219A|IL1R1_ENST00000409288.1_Splice_Site_p.E219A|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000233946.3_Splice_Site_p.E219A			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	219					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	TTTCTTTCAGAGGAAAACAAA	0.433																																							uc002tbq.2		NA																	0				skin(1)	1						c.(655-657)GAG>GCG		interleukin 1 receptor, type I precursor	Anakinra(DB00026)						138.0	145.0	143.0					2																	102785058		2203	4300	6503	SO:0001630	splice_region_variant	3554				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding	g.chr2:102785058A>C	M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.656-1A>C	2.37:g.102785058A>C						IL1R1_uc010fix.2_Missense_Mutation_p.E219A|IL1R1_uc002tbp.2_Missense_Mutation_p.E219A|IL1R1_uc002tbr.2_Missense_Mutation_p.E219A	p.E219A	NM_000877	NP_000868	P14778	IL1R1_HUMAN			7	974	+			219			Extracellular (Potential).		Q587I7	Missense_Mutation	SNP	ENST00000410023.1	37	c.656A>C	CCDS2055.1	.	.	.	.	.	.	.	.	.	.	A	12.30	1.897755	0.33535	.	.	ENSG00000115594	ENST00000409929;ENST00000424272;ENST00000409329;ENST00000428279;ENST00000409288;ENST00000410023;ENST00000233946	T;T;T;T;T;T;T	0.05081	4.4;3.77;3.77;3.5;3.77;4.39;4.39	5.26	-0.224	0.13115	.	6.767200	0.00827	N	0.001624	T	0.06462	0.0166	L	0.39467	1.215	0.24886	N	0.992192	B;B;B	0.24675	0.109;0.086;0.056	B;B;B	0.24269	0.052;0.036;0.028	T	0.34279	-0.9835	9	.	.	.	.	3.281	0.06915	0.641:0.1245:0.0737:0.1608	.	219;219;219	B8ZZW4;P14778;B8ZZ73	.;IL1R1_HUMAN;.	A	219;219;219;75;219;219;219	ENSP00000386776:E219A;ENSP00000415366:E219A;ENSP00000387131:E219A;ENSP00000410461:E75A;ENSP00000386478:E219A;ENSP00000386380:E219A;ENSP00000233946:E219A	.	E	+	2	0	IL1R1	102151490	0.025000	0.19082	0.156000	0.22583	0.353000	0.29299	-0.105000	0.10907	-0.102000	0.12197	0.533000	0.62120	GAG		0.433	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1		Missense_Mutation	4	232	0	0	0	0.014758	0	4	232				
SLC9A4	389015	broad.mit.edu	37	2	103141553	103141553	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:103141553G>A	ENST00000295269.4	+	10	2346	c.1889G>A	c.(1888-1890)cGc>cAc	p.R630H		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	630					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ATTCTGATCCGCCGCCAGAAC	0.507																																							uc002tbz.3		NA																	0				skin(2)|central_nervous_system(1)	3						c.(1888-1890)CGC>CAC		solute carrier family 9 (sodium/hydrogen							158.0	164.0	162.0					2																	103141553		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103141553G>A		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1889G>A	2.37:g.103141553G>A	ENSP00000295269:p.Arg630His						p.R630H	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			10	2346	+			630			Cytoplasmic (Potential).		Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.1889G>A	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109181	0.77096	.	.	ENSG00000180251	ENST00000295269	T	0.47869	0.83	5.84	5.84	0.93424	.	0.153751	0.56097	D	0.000026	T	0.57125	0.2032	M	0.86268	2.805	0.46044	D	0.998835	B	0.31435	0.323	B	0.29716	0.106	T	0.61787	-0.6991	10	0.72032	D	0.01	.	18.9173	0.92510	0.0:0.0:1.0:0.0	.	630	Q6AI14	SL9A4_HUMAN	H	630	ENSP00000295269:R630H	ENSP00000295269:R630H	R	+	2	0	SLC9A4	102507985	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	4.362000	0.59467	2.765000	0.95021	0.643000	0.83706	CGC		0.507	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		17	320	0	0	0	0.007413	0	17	320				
ST6GAL2	84620	broad.mit.edu	37	2	107460211	107460211	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:107460211C>G	ENST00000409382.3	-	2	833	c.223G>C	c.(223-225)Gac>Cac	p.D75H	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.D75H|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.D75H	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	75					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.D75H(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TGGCGTGCGTCCAGGCCCCCA	0.692																																							uc002tdq.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(6)|ovary(4)|skin(1)	11						c.(223-225)GAC>CAC		ST6 beta-galactosamide							16.0	20.0	19.0					2																	107460211		2155	4225	6380	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107460211C>G	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.223G>C	2.37:g.107460211C>G	ENSP00000386942:p.Asp75His					ST6GAL2_uc002tdr.2_Missense_Mutation_p.D75H|ST6GAL2_uc002tds.3_Missense_Mutation_p.D75H	p.D75H	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN			2	342	-			75			Lumenal (Potential).		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.223G>C	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.488860	0.64074	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.35789	2.32;2.32;1.29	5.42	4.54	0.55810	.	0.404992	0.29410	N	0.012232	T	0.41743	0.1172	L	0.42245	1.32	0.09310	N	0.999996	P;P	0.48503	0.911;0.761	P;B	0.50934	0.654;0.358	T	0.29941	-0.9995	10	0.66056	D	0.02	-22.6628	13.1132	0.59285	0.0:0.9227:0.0:0.0773	.	75;75	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	H	75	ENSP00000355273:D75H;ENSP00000386942:D75H;ENSP00000387332:D75H	ENSP00000355273:D75H	D	-	1	0	ST6GAL2	106826643	0.003000	0.15002	0.125000	0.21846	0.009000	0.06853	1.524000	0.35942	1.290000	0.44636	0.655000	0.94253	GAC		0.692	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		15	52	0	0	0	0.020292	0	15	52				
PTPN4	5775	broad.mit.edu	37	2	120723109	120723109	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:120723109A>G	ENST00000263708.2	+	25	3217	c.2446A>G	c.(2446-2448)Ata>Gta	p.I816V	PTPN4_ENST00000544261.1_Missense_Mutation_p.I449V	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	816	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.I816V(2)		endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	GATCCAGTACATAGCCTGGCC	0.408																																							uc002tmf.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2446-2448)ATA>GTA		protein tyrosine phosphatase, non-receptor type	Alendronate(DB00630)						146.0	125.0	132.0					2																	120723109		2203	4300	6503	SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120723109A>G		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.2446A>G	2.37:g.120723109A>G	ENSP00000263708:p.Ile816Val					PTPN4_uc010flj.1_Missense_Mutation_p.I529V|PTPN4_uc010yyr.1_Missense_Mutation_p.I449V	p.I816V	NM_002830	NP_002821	P29074	PTN4_HUMAN			25	3217	+			816			Tyrosine-protein phosphatase.		B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	c.2446A>G	CCDS2129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.968|2.968	-0.213145|-0.213145	0.06140|0.06140	.|.	.|.	ENSG00000088179|ENSG00000088179	ENST00000441089|ENST00000263708;ENST00000544261	.|T;T	.|0.13538	.|2.58;2.58	5.72|5.72	3.31|3.31	0.37934|0.37934	.|Protein-tyrosine phosphatase, receptor/non-receptor type (4);	.|0.269380	.|0.45606	.|N	.|0.000352	T|T	0.05547|0.05547	0.0146|0.0146	N|N	0.05383|0.05383	-0.06|-0.06	0.29530|0.29530	N|N	0.85286|0.85286	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.35847|0.35847	-0.9772|-0.9772	5|10	.|0.02654	.|T	.|1	.|.	10.4417|10.4417	0.44469|0.44469	0.8659:0.0:0.1341:0.0|0.8659:0.0:0.1341:0.0	.|.	.|816	.|P29074	.|PTN4_HUMAN	R|V	99|816;449	.|ENSP00000263708:I816V;ENSP00000445841:I449V	.|ENSP00000263708:I816V	H|I	+|+	2|1	0|0	PTPN4|PTPN4	120439579|120439579	0.896000|0.896000	0.30565|0.30565	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.770000|0.770000	0.26618|0.26618	1.007000|1.007000	0.39238|0.39238	0.533000|0.533000	0.62120|0.62120	CAT|ATA		0.408	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			85	106	0	0	0	0.01441	0	85	106				
MYO7B	4648	broad.mit.edu	37	2	128394197	128394197	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:128394197G>C	ENST00000409816.2	+	44	6155	c.6123G>C	c.(6121-6123)aaG>aaC	p.K2041N	MYO7B_ENST00000428314.1_Missense_Mutation_p.K2041N|MYO7B_ENST00000409090.1_Missense_Mutation_p.K894N|MYO7B_ENST00000389524.4_Missense_Mutation_p.K2042N|LIMS2_ENST00000494613.1_5'Flank			Q6PIF6	MYO7B_HUMAN	myosin VIIB	2041	FERM 2. {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.K2285N(1)|p.K2041N(1)		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)		TCCACCCCAAGACCAAGGTAG	0.652																																							uc002top.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(6121-6123)AAG>AAC		myosin VIIB							55.0	58.0	57.0					2																	128394197		2099	4203	6302	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128394197G>C		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.6123G>C	2.37:g.128394197G>C	ENSP00000386461:p.Lys2041Asn					MYO7B_uc002tos.1_Missense_Mutation_p.K151N|MYO7B_uc002tot.2_Missense_Mutation_p.K151N	p.K2041N	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	45	6176	+	Colorectal(110;0.1)		2041			FERM 2.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.6123G>C	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	g	19.31	3.803779	0.70682	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816;ENST00000409090	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	5.12	4.24	0.50183	FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.82066	0.4956	L	0.59436	1.845	0.36788	D	0.884677	D;D	0.89917	0.985;1.0	P;D	0.71656	0.84;0.974	D	0.84248	0.0476	10	0.37606	T	0.19	.	13.666	0.62396	0.0754:0.0:0.9246:0.0	.	956;2041	B0I1T4;Q6PIF6	.;MYO7B_HUMAN	N	2042;2041;2041;894	ENSP00000374175:K2042N;ENSP00000415090:K2041N;ENSP00000386461:K2041N;ENSP00000386850:K894N	ENSP00000374175:K2042N	K	+	3	2	MYO7B	128110667	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.578000	0.36525	1.286000	0.44565	0.591000	0.81541	AAG		0.652	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		5	24	0	0	0	0.014758	0	5	24				
NCKAP5	344148	broad.mit.edu	37	2	133489461	133489461	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:133489461C>A	ENST00000409261.1	-	17	5665	c.5292G>T	c.(5290-5292)atG>atT	p.M1764I	NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000409213.1_Missense_Mutation_p.M445I|NCKAP5_ENST00000405974.3_Missense_Mutation_p.M445I|NCKAP5_ENST00000317721.6_Missense_Mutation_p.M1764I	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1764								p.M1764I(2)|p.M284I(2)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTTGGGCTCTCATGGAAGAAA	0.582																																							uc002ttp.2		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(5290-5292)ATG>ATT		Nck-associated protein 5 isoform 1							99.0	105.0	103.0					2																	133489461		2076	4208	6284	SO:0001583	missense	344148						protein binding	g.chr2:133489461C>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.5292G>T	2.37:g.133489461C>A	ENSP00000387128:p.Met1764Ile					NCKAP5_uc002ttq.2_Missense_Mutation_p.M445I	p.M1764I	NM_207363	NP_997246	O14513	NCKP5_HUMAN			17	5666	-			1764					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.5292G>T	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	C	0.096	-1.158929	0.01686	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661	T;T;T;T	0.40225	3.05;1.04;3.05;1.04	5.2	1.4	0.22301	.	1.478470	0.05424	N	0.544849	T	0.17066	0.0410	N	0.02539	-0.55	0.09310	N	0.999993	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20338	-1.0278	10	0.17369	T	0.5	.	3.6992	0.08376	0.0747:0.2345:0.3665:0.3243	.	445;1764	O14513-2;O14513	.;NCKP5_HUMAN	I	1764;445;1764;445;445	ENSP00000387128:M1764I;ENSP00000386952:M445I;ENSP00000380603:M1764I;ENSP00000385692:M445I	ENSP00000380603:M1764I	M	-	3	0	NCKAP5	133205931	0.944000	0.32072	0.943000	0.38184	0.527000	0.34593	0.827000	0.27421	0.084000	0.17077	-0.867000	0.03001	ATG		0.582	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		20	90	1	0	4.26978e-12	0.01892	5.07198e-12	20	90				
NCKAP5	344148	broad.mit.edu	37	2	133547750	133547750	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:133547750A>T	ENST00000409261.1	-	13	1311	c.938T>A	c.(937-939)tTg>tAg	p.L313*	NCKAP5_ENST00000409213.1_Nonsense_Mutation_p.L313*|NCKAP5_ENST00000405974.3_Nonsense_Mutation_p.L313*|NCKAP5_ENST00000317721.6_Nonsense_Mutation_p.L313*	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	313										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AGGGCATTTCAAGGCCGATTT	0.493																																							uc002ttp.2		NA																	0					0						c.(937-939)TTG>TAG		Nck-associated protein 5 isoform 1							76.0	81.0	79.0					2																	133547750		1956	4154	6110	SO:0001587	stop_gained	344148						protein binding	g.chr2:133547750A>T	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.938T>A	2.37:g.133547750A>T	ENSP00000387128:p.Leu313*					NCKAP5_uc002ttq.2_Nonsense_Mutation_p.L313*	p.L313*	NM_207363	NP_997246	O14513	NCKP5_HUMAN			13	1312	-			313					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Nonsense_Mutation	SNP	ENST00000409261.1	37	c.938T>A	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	a	39	7.361378	0.98235	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661	.	.	.	4.88	3.75	0.43078	.	0.000000	0.26983	U	0.021517	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7805	0.40645	0.9176:0.0:0.0824:0.0	.	.	.	.	X	313	.	ENSP00000380603:L313X	L	-	2	0	NCKAP5	133264220	1.000000	0.71417	0.858000	0.33744	0.943000	0.58893	2.852000	0.48310	2.189000	0.69895	0.524000	0.50904	TTG		0.493	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		3	48	0	0	0	0.004672	0	3	48				
LRP1B	53353	broad.mit.edu	37	2	141032165	141032165	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:141032165C>A	ENST00000389484.3	-	85	13941	c.12970G>T	c.(12970-12972)Gtg>Ttg	p.V4324L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4324	EGF-like 20. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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.V4324L(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)		TGGTGGCACACGTCTAGGAAA	0.353										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	2	Substitution - Missense(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.(12970-12972)GTG>TTG		low density lipoprotein-related protein 1B							93.0	75.0	81.0					2																	141032165		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141032165C>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.12970G>T	2.37:g.141032165C>A	ENSP00000374135:p.Val4324Leu	TSP Lung(27;0.18)					p.V4324L	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)	85	13942	-		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)	4324			Extracellular (Potential).|EGF-like 13.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.12970G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	4.653	0.121393	0.08881	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90324	-2.65	5.36	5.36	0.76844	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.078506	0.50627	U	0.000106	D	0.83843	0.5342	N	0.22421	0.69	0.36749	D	0.882662	B	0.29936	0.262	B	0.24541	0.054	D	0.83392	0.0018	10	0.26408	T	0.33	.	17.2537	0.87049	0.0:1.0:0.0:0.0	.	4324	Q9NZR2	LRP1B_HUMAN	L	4324;4262	ENSP00000374135:V4324L	ENSP00000374135:V4324L	V	-	1	0	LRP1B	140748635	1.000000	0.71417	1.000000	0.80357	0.206000	0.24218	2.387000	0.44389	2.499000	0.84300	0.655000	0.94253	GTG		0.353	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		24	46	1	0	2.98393e-07	0.016522	3.30891e-07	24	46				
DPP4	1803	broad.mit.edu	37	2	162868405	162868405	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:162868405C>G	ENST00000360534.3	-	20	2290	c.1730G>C	c.(1729-1731)aGc>aCc	p.S577T	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	577					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.S577T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	GCCATCAAAGCTAGCTACTAT	0.428																																							uc002ubz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1729-1731)AGC>ACC		dipeptidylpeptidase IV	Sitagliptin(DB01261)						160.0	132.0	141.0					2																	162868405		2203	4300	6503	SO:0001583	missense	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162868405C>G	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1730G>C	2.37:g.162868405C>G	ENSP00000353731:p.Ser577Thr					DPP4_uc010fpb.2_Missense_Mutation_p.S253T	p.S577T	NM_001935	NP_001926	P27487	DPP4_HUMAN			20	2291	-			577			Extracellular (Potential).		Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	c.1730G>C	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523281	0.85600	.	.	ENSG00000197635	ENST00000360534	T	0.28454	1.61	5.94	5.94	0.96194	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.47710	0.1460	L	0.35249	1.045	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.21484	-1.0244	10	0.40728	T	0.16	-23.2131	20.3593	0.98849	0.0:1.0:0.0:0.0	.	577	P27487	DPP4_HUMAN	T	577	ENSP00000353731:S577T	ENSP00000353731:S577T	S	-	2	0	DPP4	162576651	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.961000	0.63681	2.807000	0.96579	0.591000	0.81541	AGC		0.428	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			11	223	0	0	0	0.010729	0	11	223				
SCN2A	6326	broad.mit.edu	37	2	166201299	166201299	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:166201299C>A	ENST00000375437.2	+	16	3087	c.2797C>A	c.(2797-2799)Ctg>Atg	p.L933M	SCN2A_ENST00000375427.2_Missense_Mutation_p.L933M|SCN2A_ENST00000283256.6_Missense_Mutation_p.L933M|SCN2A_ENST00000357398.3_Missense_Mutation_p.L933M	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	933					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.L933M(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCACTCCTTCCTGATCGTGTT	0.493																																							uc002udc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(1)|pancreas(1)	8						c.(2797-2799)CTG>ATG		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						255.0	223.0	234.0					2																	166201299		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166201299C>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2797C>A	2.37:g.166201299C>A	ENSP00000364586:p.Leu933Met					SCN2A_uc002udd.2_Missense_Mutation_p.L933M|SCN2A_uc002ude.2_Missense_Mutation_p.L933M	p.L933M	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			16	3087	+			933			II.		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.2797C>A	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336551	0.60963	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98978	-5.29;-5.29;-5.29;-5.29	5.42	4.55	0.56014	Ion transport (1);	0.000000	0.48286	D	0.000196	D	0.98912	0.9631	M	0.70595	2.14	0.44036	D	0.99676	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98698	1.0699	10	0.32370	T	0.25	.	10.5621	0.45152	0.0:0.7983:0.0:0.2017	.	933;933	Q99250-2;Q99250	.;SCN2A_HUMAN	M	933	ENSP00000364586:L933M;ENSP00000349973:L933M;ENSP00000283256:L933M;ENSP00000364576:L933M	ENSP00000283256:L933M	L	+	1	2	SCN2A	165909545	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.428000	0.44749	1.293000	0.44690	0.650000	0.86243	CTG		0.493	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		63	199	1	0	3.07281e-33	0.01441	4.19701e-33	63	199				
SCN9A	6335	broad.mit.edu	37	2	167168167	167168167	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:167168167C>G	ENST00000409435.1	-	1	99	c.100G>C	c.(100-102)Gaa>Caa	p.E34Q	SCN9A_ENST00000303354.6_Missense_Mutation_p.E34Q|SCN9A_ENST00000409672.1_Missense_Mutation_p.E34Q|SCN9A_ENST00000375387.4_Missense_Mutation_p.E34Q			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	34					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.E34Q(2)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTTTGGGTTCCTTTGATTTT	0.468																																							uc010fpl.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|central_nervous_system(5)|skin(2)	13						c.(100-102)GAA>CAA		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						112.0	113.0	113.0					2																	167168167		1966	4189	6155	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167168167C>G	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.100G>C	2.37:g.167168167C>G	ENSP00000386330:p.Glu34Gln						p.E34Q	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			2	441	-			34					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.100G>C	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	c	12.07	1.826379	0.32329	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.95918	-3.82;-3.85;-3.85;-3.84	5.43	5.43	0.79202	.	0.998979	0.08100	N	0.997880	D	0.88078	0.6340	N	0.10837	0.055	0.23784	N	0.99685	B	0.14438	0.01	B	0.17098	0.017	T	0.77172	-0.2685	10	0.11485	T	0.65	.	6.0877	0.19976	0.0:0.681:0.1627:0.1564	.	34	E7EUN6	.	Q	34	ENSP00000386306:E34Q;ENSP00000364536:E34Q;ENSP00000304748:E34Q;ENSP00000386330:E34Q	ENSP00000304748:E34Q	E	-	1	0	SCN9A	166876413	0.000000	0.05858	0.997000	0.53966	0.977000	0.68977	0.277000	0.18734	2.541000	0.85698	0.655000	0.94253	GAA		0.468	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		43	182	0	0	0	0.009718	0	43	182				
XIRP2	129446	broad.mit.edu	37	2	168100642	168100642	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:168100642T>C	ENST00000409195.1	+	9	2829	c.2740T>C	c.(2740-2742)Tgg>Cgg	p.W914R	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.W914R|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.W692R	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	739					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.W914R(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCATCAAAAATGGATTTTTGA	0.368																																							uc002udx.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(7)|ovary(6)|pancreas(1)	14						c.(2740-2742)TGG>CGG		xin actin-binding repeat containing 2 isoform 1							51.0	48.0	49.0					2																	168100642		1828	4090	5918	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168100642T>C	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2740T>C	2.37:g.168100642T>C	ENSP00000386840:p.Trp914Arg					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.W739R|XIRP2_uc010fpq.2_Missense_Mutation_p.W692R|XIRP2_uc010fpr.2_Intron	p.W914R	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	2758	+			739			Xin 11.		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.2740T>C	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	T	16.13	3.034614	0.54896	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.41400	1.0;1.0;1.0	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.56247	0.1972	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.57694	-0.7767	10	0.62326	D	0.03	-4.158	16.1237	0.81377	0.0:0.0:0.0:1.0	.	739;739;692	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	R	914;914;692	ENSP00000386840:W914R;ENSP00000295237:W914R;ENSP00000387255:W692R	ENSP00000295237:W914R	W	+	1	0	XIRP2	167808888	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	4.835000	0.62781	2.289000	0.77006	0.533000	0.62120	TGG		0.368	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		26	75	0	0	0	0.021523	0	26	75				
BBS5	129880	broad.mit.edu	37	2	170336019	170336019	+	5'UTR	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:170336019G>T	ENST00000295240.3	+	0	332				BBS5_ENST00000392663.2_5'UTR|RP11-724O16.1_ENST00000513963.1_5'UTR|BBS5_ENST00000554017.1_5'UTR	NM_152384.2	NP_689597.1	Q8N3I7	BBS5_HUMAN	Bardet-Biedl syndrome 5						cilium assembly (GO:0042384)|heart looping (GO:0001947)|melanosome transport (GO:0032402)|motile cilium assembly (GO:0044458)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphate binding (GO:0032266)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GACGCAGCTAGGCCTGCACGG	0.662									Bardet-Biedl syndrome																														uc010zdh.1		NA																	0					0						c.(-46--42)TAGGC>TATGC		Bardet-Biedl syndrome 5							77.0	71.0	73.0					2																	170336019		2203	4300	6503	SO:0001623	5_prime_UTR_variant	10324		Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle		g.chr2:170336019G>T	AY604003	CCDS2233.1	2q31	2011-08-02			ENSG00000163093	ENSG00000163093			970	protein-coding gene	gene with protein product		603650				9888993, 10053027	Standard	NM_152384		Approved	DKFZp762I194		Q8N3I7	OTTHUMG00000132207	ENST00000295240.3:c.-45G>T	2.37:g.170336019G>T						BBS5_uc002uet.2_Translation_Start_Site|BBS5_uc010fpw.2_Translation_Start_Site		NM_152384	NP_689597	O60662	KBTBA_HUMAN			1	14	+								D3DPC3|Q6PKN0	Translation_Start_Site	SNP	ENST00000295240.3	37	c.-44G>T	CCDS2233.1																																																																																				0.662	BBS5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255265.2	NM_152384		7	25	1	0	2.0095e-06	0.001984	2.18812e-06	7	25				
TLK1	9874	broad.mit.edu	37	2	171863034	171863034	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:171863034C>G	ENST00000431350.2	-	17	2122	c.1718G>C	c.(1717-1719)aGa>aCa	p.R573T	TLK1_ENST00000521943.1_Missense_Mutation_p.R525T|TLK1_ENST00000434911.2_Missense_Mutation_p.R477T|TLK1_ENST00000360843.3_Missense_Mutation_p.R594T|TLK1_ENST00000442919.2_Missense_Mutation_p.R525T			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	573	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ATTGAGATATCTTAGTGCATT	0.313																																							uc002ugn.2		NA																	0				central_nervous_system(1)	1						c.(1717-1719)AGA>ACA		tousled-like kinase 1 isoform 1							98.0	99.0	99.0					2																	171863034		2203	4298	6501	SO:0001583	missense	9874				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:171863034C>G	AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.1718G>C	2.37:g.171863034C>G	ENSP00000411099:p.Arg573Thr					TLK1_uc002ugo.2_Missense_Mutation_p.R594T|TLK1_uc002ugp.2_Missense_Mutation_p.R525T|TLK1_uc002ugq.2_RNA|TLK1_uc010zdn.1_Missense_Mutation_p.R477T	p.R573T	NM_012290	NP_036422	Q9UKI8	TLK1_HUMAN			17	2190	-			573			Protein kinase.		B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	SNP	ENST00000431350.2	37	c.1718G>C	CCDS2241.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.442749	0.43326	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000356075;ENST00000521943;ENST00000434911	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	4.8	4.8	0.61643	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.113022	0.64402	D	0.000016	T	0.52224	0.1721	N	0.20574	0.59	0.50313	D	0.999865	B;B;P	0.37731	0.146;0.312;0.607	B;B;B	0.39465	0.3;0.199;0.3	T	0.57046	-0.7878	10	0.46703	T	0.11	.	18.2797	0.90094	0.0:1.0:0.0:0.0	.	477;594;573	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	T	525;573;594;39;525;477	ENSP00000402165:R525T;ENSP00000411099:R573T;ENSP00000354089:R594T;ENSP00000428113:R525T;ENSP00000409222:R477T	ENSP00000348376:R39T	R	-	2	0	TLK1	171571280	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.051000	0.41307	2.387000	0.81309	0.454000	0.30748	AGA		0.313	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290		3	204	0	0	0	0.004672	0	3	204				
TTN	7273	broad.mit.edu	37	2	179395627	179395627	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:179395627G>T	ENST00000591111.1	-	308	101016	c.100792C>A	c.(100792-100794)Cct>Act	p.P33598T	TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P35239T|TTN_ENST00000342175.6_Missense_Mutation_p.P26366T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P26299T|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P26174T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P32671T|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33598					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.P26299T(1)|p.P26366T(1)|p.P26174T(1)|p.P32671T(1)|p.P32669T(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)			TTCACCCGAGGCTCTGGGGAT	0.483																																							uc010zfg.1		NA																	5	Substitution - Missense(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.(98011-98013)CCT>ACT		titin isoform N2-A							123.0	122.0	122.0					2																	179395627		1852	4088	5940	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179395627G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.100792C>A	2.37:g.179395627G>T	ENSP00000465570:p.Pro33598Thr					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P26366T|TTN_uc010zfi.1_Missense_Mutation_p.P26299T|TTN_uc010zfj.1_Missense_Mutation_p.P26174T|TTN_uc002umq.2_5'Flank	p.P32671T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	98235	-			33598					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.98011C>A		.	.	.	.	.	.	.	.	.	.	G	17.49	3.401590	0.62288	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66995	-0.24;0.09;0.07;0.06	4.99	4.99	0.66335	Ribonuclease H-like (1);	.	.	.	.	T	0.60881	0.2303	L	0.34521	1.04	0.45342	D	0.998336	P;P;P;P	0.42456	0.78;0.78;0.78;0.78	B;B;B;B	0.40636	0.335;0.335;0.335;0.335	T	0.67803	-0.5576	9	0.87932	D	0	.	18.2867	0.90117	0.0:0.0:1.0:0.0	.	26174;26299;26366;33598	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	32671;26174;26366;26299;26171	ENSP00000343764:P32671T;ENSP00000434586:P26174T;ENSP00000340554:P26366T;ENSP00000352154:P26299T	ENSP00000340554:P26366T	P	-	1	0	TTN	179103873	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.713000	0.68415	2.321000	0.78463	0.455000	0.32223	CCT		0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		73	148	1	0	1.46168e-27	0.01441	1.94891e-27	73	148				
TTN	7273	broad.mit.edu	37	2	179497651	179497651	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:179497651C>A	ENST00000591111.1	-	184	38508	c.38284G>T	c.(38284-38286)Gtg>Ttg	p.V12762L	TTN_ENST00000589042.1_Missense_Mutation_p.V14403L|TTN_ENST00000342175.6_Missense_Mutation_p.V5530L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V5463L|TTN_ENST00000460472.2_Missense_Mutation_p.V5338L|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V11835L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12762					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.V11835L(4)|p.V5463L(2)|p.V5530L(2)|p.V5338L(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)			ATACCTTTCACTTTCAGATTG	0.438																																							uc010zfg.1		NA																	10	Substitution - Missense(10)		lung(10)	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.(35503-35505)GTG>TTG		titin isoform N2-A							144.0	144.0	144.0					2																	179497651		1912	4119	6031	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179497651C>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.38284G>T	2.37:g.179497651C>A	ENSP00000465570:p.Val12762Leu					TTN_uc010zfh.1_Missense_Mutation_p.V5530L|TTN_uc010zfi.1_Missense_Mutation_p.V5463L|TTN_uc010zfj.1_Missense_Mutation_p.V5338L	p.V11835L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		183	35727	-			12762					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.35503G>T		.	.	.	.	.	.	.	.	.	.	C	15.60	2.881353	0.51801	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	6.07	6.07	0.98685	Immunoglobulin subtype (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84415	0.5467	H	0.95470	3.675	0.58432	D	0.999999	D;D;D;D	0.64830	0.994;0.994;0.994;0.994	D;D;D;D	0.72625	0.978;0.978;0.978;0.978	D	0.87704	0.2562	9	0.87932	D	0	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	5338;5463;5530;12762	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	11835;5338;5530;5463;5338	ENSP00000343764:V11835L;ENSP00000434586:V5338L;ENSP00000340554:V5530L;ENSP00000352154:V5463L	ENSP00000340554:V5530L	V	-	1	0	TTN	179205896	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.770000	0.85390	2.884000	0.98904	0.655000	0.94253	GTG		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		28	199	1	0	9.39395e-14	0.00632	1.1348e-13	28	199				
TTN	7273	broad.mit.edu	37	2	179550274	179550274	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:179550274G>A	ENST00000591111.1	-	126	31636	c.31412C>T	c.(31411-31413)tCt>tTt	p.S10471F	TTN_ENST00000589042.1_Missense_Mutation_p.S10788F|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S9544F|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				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.S9544F(2)|p.S9544Y(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)			CACTCTCTTAGAAATAATGTG	0.358																																							uc010zfg.1		NA																	3	Substitution - Missense(3)		lung(2)|large_intestine(1)	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.(28630-28632)TCT>TTT		titin isoform N2-A							105.0	101.0	102.0					2																	179550274		1903	4119	6022	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179550274G>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.31412C>T	2.37:g.179550274G>A	ENSP00000465570:p.Ser10471Phe					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S6205F|TTN_uc010fre.1_Intron	p.S9544F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		125	28855	-			10471					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.28631C>T		.	.	.	.	.	.	.	.	.	.	G	15.13	2.741389	0.49151	.	.	ENSG00000155657	ENST00000342992	T	0.66460	-0.21	5.95	5.95	0.96441	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.58949	0.2158	N	0.22421	0.69	0.80722	D	1	B	0.31009	0.303	B	0.33890	0.172	T	0.60652	-0.7221	9	0.87932	D	0	.	18.5737	0.91147	0.0:0.0:1.0:0.0	.	10471	Q8WZ42	TITIN_HUMAN	F	9544	ENSP00000343764:S9544F	ENSP00000343764:S9544F	S	-	2	0	TTN	179258519	1.000000	0.71417	0.555000	0.28281	0.971000	0.66376	4.816000	0.62642	2.824000	0.97209	0.655000	0.94253	TCT		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	27	0	0	0	0.006122	0	16	27				
TTN	7273	broad.mit.edu	37	2	179639767	179639767	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:179639767G>T	ENST00000591111.1	-	29	6895	c.6671C>A	c.(6670-6672)tCt>tAt	p.S2224Y	TTN_ENST00000589042.1_Missense_Mutation_p.S2224Y|TTN_ENST00000342175.6_Missense_Mutation_p.S2178Y|TTN_ENST00000359218.5_Missense_Mutation_p.S2178Y|TTN_ENST00000460472.2_Missense_Mutation_p.S2178Y|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000584485.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S2224Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.S2224Y			Q8WZ42	TITIN_HUMAN	titin	12550	Ig-like 11.				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.S2178Y(6)|p.S2224Y(6)		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)			CTTTCTGTCAGAGTGCATCCT	0.398																																							uc010zfg.1		NA																	12	Substitution - Missense(12)		lung(12)	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.(6670-6672)TCT>TAT		titin isoform N2-A							189.0	177.0	181.0					2																	179639767		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179639767G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.6671C>A	2.37:g.179639767G>T	ENSP00000465570:p.Ser2224Tyr					TTN_uc010zfh.1_Missense_Mutation_p.S2178Y|TTN_uc010zfi.1_Missense_Mutation_p.S2178Y|TTN_uc010zfj.1_Missense_Mutation_p.S2178Y|TTN_uc002unb.2_Missense_Mutation_p.S2224Y|uc002unc.1_5'Flank	p.S2224Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		29	6895	-			2224					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.6671C>A		.	.	.	.	.	.	.	.	.	.	G	15.67	2.901713	0.52227	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	5.42	5.42	0.78866	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79969	0.4538	L	0.53729	1.69	0.44162	D	0.996964	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.81353	-0.0971	9	0.87932	D	0	.	19.2123	0.93760	0.0:0.0:1.0:0.0	.	2178;2178;2178;2224;2224	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Y	2224;2178;2178;2178;2178;2224	ENSP00000343764:S2224Y;ENSP00000434586:S2178Y;ENSP00000340554:S2178Y;ENSP00000352154:S2178Y;ENSP00000354117:S2224Y	ENSP00000340554:S2178Y	S	-	2	0	TTN	179348012	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.869000	0.99810	2.542000	0.85734	0.557000	0.71058	TCT		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		44	85	1	0	1.61572e-30	0.010771	2.17278e-30	44	85				
DNAH7	56171	broad.mit.edu	37	2	196620908	196620908	+	Silent	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:196620908T>C	ENST00000312428.6	-	62	11635	c.11535A>G	c.(11533-11535)aaA>aaG	p.K3845K	DNAH7_ENST00000409063.1_Silent_p.K328K	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3845					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGCCAAGTGGTTTAAGGCTTG	0.393																																							uc002utj.3		NA																	0				skin(10)|ovary(2)	12						c.(11533-11535)AAA>AAG		dynein, axonemal, heavy chain 7							102.0	96.0	98.0					2																	196620908		1836	4099	5935	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196620908T>C	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.11535A>G	2.37:g.196620908T>C						DNAH7_uc002uti.3_Silent_p.K328K	p.K3845K	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			62	11636	-			3845					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.11535A>G	CCDS42794.1																																																																																				0.393	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		4	130	0	0	0	0.009096	0	4	130				
HECW2	57520	broad.mit.edu	37	2	197182014	197182014	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:197182014G>T	ENST00000260983.3	-	10	2600	c.2418C>A	c.(2416-2418)gaC>gaA	p.D806E	HECW2_ENST00000409111.1_Missense_Mutation_p.D450E	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	806	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.D806E(2)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGAGAGCCTCGTCCACCCTCT	0.522																																							uc002utm.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						c.(2416-2418)GAC>GAA		HECT, C2 and WW domain containing E3 ubiquitin							85.0	71.0	76.0					2																	197182014		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197182014G>T	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.2418C>A	2.37:g.197182014G>T	ENSP00000260983:p.Asp806Glu					HECW2_uc002utl.1_Missense_Mutation_p.D450E	p.D806E	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN			10	2601	-			806			Interaction with TP73.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.2418C>A	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917516	0.73098	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.31247	1.5;1.52	5.84	-2.39	0.06602	WW/Rsp5/WWP (2);	0.098622	0.64402	D	0.000002	T	0.37625	0.1010	L	0.32530	0.975	0.48975	D	0.999732	D	0.89917	1.0	D	0.81914	0.995	T	0.02015	-1.1229	10	0.23302	T	0.38	.	14.5364	0.67963	0.7355:0.0:0.2645:0.0	.	806	Q9P2P5	HECW2_HUMAN	E	450;806	ENSP00000386775:D450E;ENSP00000260983:D806E	ENSP00000260983:D806E	D	-	3	2	HECW2	196890259	0.032000	0.19561	0.922000	0.36590	0.948000	0.59901	-0.699000	0.05087	-0.896000	0.03915	-0.794000	0.03295	GAC		0.522	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		15	43	1	0	1.5739e-10	0.004007	1.82805e-10	15	43				
HECW2	57520	broad.mit.edu	37	2	197184122	197184122	+	Missense_Mutation	SNP	C	C	G	rs200908162	byFrequency	TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:197184122C>G	ENST00000260983.3	-	9	1674	c.1492G>C	c.(1492-1494)Gat>Cat	p.D498H	HECW2_ENST00000409111.1_Missense_Mutation_p.D142H	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	498					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.D498H(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTTCCATCATCAGCTCTGGAT	0.512																																							uc002utm.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						c.(1492-1494)GAT>CAT		HECT, C2 and WW domain containing E3 ubiquitin							66.0	60.0	62.0					2																	197184122		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197184122C>G	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1492G>C	2.37:g.197184122C>G	ENSP00000260983:p.Asp498His					HECW2_uc002utl.1_Missense_Mutation_p.D142H	p.D498H	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN			9	1675	-			498					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.1492G>C	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	9.133	1.011893	0.19277	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.31247	1.5;1.5	5.41	3.53	0.40419	.	1.506860	0.03261	N	0.183275	T	0.20333	0.0489	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.12785	-1.0534	10	0.38643	T	0.18	.	9.9423	0.41587	0.0:0.7885:0.1372:0.0743	.	498	Q9P2P5	HECW2_HUMAN	H	142;498	ENSP00000386775:D142H;ENSP00000260983:D498H	ENSP00000260983:D498H	D	-	1	0	HECW2	196892367	0.000000	0.05858	0.138000	0.22173	0.452000	0.32318	0.571000	0.23669	1.468000	0.48064	0.561000	0.74099	GAT		0.512	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		3	65	0	0	0	0.004672	0	3	65				
HECW2	57520	broad.mit.edu	37	2	197298062	197298062	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:197298062T>A	ENST00000260983.3	-	2	268	c.86A>T	c.(85-87)cAg>cTg	p.Q29L		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	29					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.Q29L(2)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGCAAGGCTCTGGAGGTTCTC	0.592																																							uc002utm.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						c.(85-87)CAG>CTG		HECT, C2 and WW domain containing E3 ubiquitin							86.0	75.0	79.0					2																	197298062		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197298062T>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.86A>T	2.37:g.197298062T>A	ENSP00000260983:p.Gln29Leu						p.Q29L	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN			2	269	-			29					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.86A>T	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	T	15.65	2.895044	0.52121	.	.	ENSG00000138411	ENST00000260983;ENST00000452031;ENST00000427457	T;T;T	0.35789	1.29;1.29;1.29	5.27	5.27	0.74061	.	0.221910	0.39759	N	0.001268	T	0.30541	0.0768	L	0.36672	1.1	0.39931	D	0.974287	B	0.29716	0.255	B	0.26614	0.071	T	0.12915	-1.0529	10	0.45353	T	0.12	.	15.3484	0.74363	0.0:0.0:0.0:1.0	.	29	Q9P2P5	HECW2_HUMAN	L	29	ENSP00000260983:Q29L;ENSP00000409918:Q29L;ENSP00000395770:Q29L	ENSP00000260983:Q29L	Q	-	2	0	HECW2	197006307	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.782000	0.62396	2.209000	0.71365	0.459000	0.35465	CAG		0.592	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		46	145	0	0	0	0.01441	0	46	145				
RFTN2	130132	broad.mit.edu	37	2	198482528	198482528	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:198482528A>G	ENST00000295049.4	-	6	1582	c.1046T>C	c.(1045-1047)aTt>aCt	p.I349T		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	349					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)		p.I349T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						GCTCACCTCAATAACAGTCCA	0.313																																							uc002uuo.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1045-1047)ATT>ACT		raftlin family member 2							92.0	84.0	87.0					2																	198482528		2203	4300	6503	SO:0001583	missense	130132					plasma membrane		g.chr2:198482528A>G	AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 11"""	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.1046T>C	2.37:g.198482528A>G	ENSP00000295049:p.Ile349Thr						p.I349T	NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN			6	1448	-			349					Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Missense_Mutation	SNP	ENST00000295049.4	37	c.1046T>C	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	A	20.0	3.931008	0.73327	.	.	ENSG00000162944	ENST00000295049;ENST00000454447	T;T	0.39997	1.05;1.05	5.65	5.65	0.86999	.	0.170876	0.51477	D	0.000084	T	0.58666	0.2138	L	0.51422	1.61	0.52501	D	0.999958	D	0.89917	1.0	D	0.85130	0.997	T	0.58612	-0.7606	10	0.49607	T	0.09	-12.4458	14.4602	0.67442	1.0:0.0:0.0:0.0	.	349	Q52LD8	RFTN2_HUMAN	T	349;31	ENSP00000295049:I349T;ENSP00000387459:I31T	ENSP00000295049:I349T	I	-	2	0	RFTN2	198190773	1.000000	0.71417	0.976000	0.42696	0.940000	0.58332	7.530000	0.81962	2.149000	0.67028	0.533000	0.62120	ATT		0.313	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	NM_144629		21	81	0	0	0	0.014323	0	21	81				
GPR1	2825	broad.mit.edu	37	2	207041754	207041754	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:207041754G>T	ENST00000407325.2	-	3	580	c.218C>A	c.(217-219)aCt>aAt	p.T73N	GPR1_ENST00000437420.1_Missense_Mutation_p.T73N	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	73					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		GAACCACAGAGTGGTGACTGT	0.468																																							uc002vbl.3		NA																	0					0						c.(217-219)ACT>AAT		G protein-coupled receptor 1							180.0	181.0	181.0					2																	207041754		2203	4300	6503	SO:0001583	missense	2825					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:207041754G>T		CCDS2368.1	2q33.3	2014-01-30			ENSG00000183671	ENSG00000183671		"""GPCR / Class A : Orphans"""	4463	protein-coding gene	gene with protein product		600239				7851889	Standard	NM_005279		Approved		uc031rqv.1	P46091	OTTHUMG00000132894	ENST00000407325.2:c.218C>A	2.37:g.207041754G>T	ENSP00000384345:p.Thr73Asn					GPR1_uc010fue.2_Missense_Mutation_p.T73N|GPR1_uc010fuf.2_Missense_Mutation_p.T73N	p.T73N	NM_005279	NP_005270	P46091	GPR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)	3	604	-		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)	73			Cytoplasmic (Potential).		A5JUU6|A8K4L1|Q53TR9|Q6NVX4	Missense_Mutation	SNP	ENST00000407325.2	37	c.218C>A	CCDS2368.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890300	0.52014	.	.	ENSG00000183671	ENST00000407325;ENST00000437420;ENST00000442134;ENST00000451790;ENST00000447845;ENST00000439932;ENST00000411719	T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53	5.84	5.84	0.93424	GPCR, rhodopsin-like superfamily (1);	0.052093	0.85682	D	0.000000	T	0.39989	0.1099	N	0.20328	0.56	0.49130	D	0.999759	D	0.61080	0.989	P	0.58780	0.845	T	0.29305	-1.0016	10	0.72032	D	0.01	.	20.157	0.98115	0.0:0.0:1.0:0.0	.	73	P46091	GPR1_HUMAN	N	73	ENSP00000384345:T73N;ENSP00000397535:T73N;ENSP00000414836:T73N;ENSP00000391146:T73N;ENSP00000414524:T73N;ENSP00000409577:T73N	ENSP00000384345:T73N	T	-	2	0	GPR1	206749999	1.000000	0.71417	1.000000	0.80357	0.285000	0.27093	4.266000	0.58871	2.768000	0.95171	0.650000	0.86243	ACT		0.468	GPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256394.2	NM_001098199		13	308	1	0	9.31168e-06	0.016723	1.00142e-05	13	308				
DYTN	391475	broad.mit.edu	37	2	207527696	207527696	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:207527696G>T	ENST00000452335.2	-	11	1680	c.1564C>A	c.(1564-1566)Ctg>Atg	p.L522M		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	522						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.L522M(4)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TCTTCCTCCAGCTCATCCTTT	0.463																																							uc002vbr.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)|central_nervous_system(1)	2						c.(1564-1566)CTG>ATG		dystrotelin							246.0	237.0	240.0					2																	207527696		1972	4154	6126	SO:0001583	missense	391475					plasma membrane	zinc ion binding	g.chr2:207527696G>T	ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.1564C>A	2.37:g.207527696G>T	ENSP00000396593:p.Leu522Met						p.L522M	NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)	11	1681	-			522			Potential.			Missense_Mutation	SNP	ENST00000452335.2	37	c.1564C>A	CCDS46502.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528525	0.64860	.	.	ENSG00000232125	ENST00000452335	T	0.18174	2.23	5.13	-0.124	0.13523	.	.	.	.	.	T	0.15652	0.0377	L	0.27053	0.805	0.09310	N	1	P	0.49961	0.93	P	0.50440	0.641	T	0.17745	-1.0359	9	0.52906	T	0.07	-0.383	6.3521	0.21381	0.1719:0.4498:0.3783:0.0	.	522	A2CJ06	DYTN_HUMAN	M	522	ENSP00000396593:L522M	ENSP00000396593:L522M	L	-	1	2	DYTN	207235941	0.000000	0.05858	0.002000	0.10522	0.669000	0.39330	-0.153000	0.10144	0.122000	0.18314	0.655000	0.94253	CTG		0.463	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1			115	221	1	0	3.45881e-44	0.01441	4.82511e-44	115	221				
FASTKD2	22868	broad.mit.edu	37	2	207635937	207635937	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:207635937G>C	ENST00000236980.6	+	4	1261	c.913G>C	c.(913-915)Gaa>Caa	p.E305Q	FASTKD2_ENST00000403094.3_Missense_Mutation_p.E305Q|FASTKD2_ENST00000402774.3_Missense_Mutation_p.E305Q	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	305					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.E305Q(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		TTGGAAAATAGAAGATGTCTT	0.308																																							uc002vbu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(913-915)GAA>CAA		FAST kinase domains 2							99.0	94.0	96.0					2																	207635937		2203	4300	6503	SO:0001583	missense	22868				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:207635937G>C	BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"""KIAA0971"""	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.913G>C	2.37:g.207635937G>C	ENSP00000236980:p.Glu305Gln					FASTKD2_uc002vbv.2_Missense_Mutation_p.E305Q|FASTKD2_uc002vbx.2_Missense_Mutation_p.E305Q|FASTKD2_uc002vbw.1_Missense_Mutation_p.E305Q	p.E305Q	NM_001136193	NP_001129665	Q9NYY8	FAKD2_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)	4	1323	+			305					Q9NVX6|Q9Y2H7	Missense_Mutation	SNP	ENST00000236980.6	37	c.913G>C	CCDS2371.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620657	0.46736	.	.	ENSG00000118246	ENST00000236980;ENST00000402774;ENST00000403094	T;T;T	0.14640	2.49;2.49;2.49	5.63	0.801	0.18679	.	0.717395	0.13343	N	0.395031	T	0.14442	0.0349	M	0.62723	1.935	0.21802	N	0.999539	P;P	0.46142	0.873;0.704	P;B	0.46659	0.523;0.152	T	0.14035	-1.0487	10	0.25106	T	0.35	-12.259	1.5945	0.02661	0.3679:0.1298:0.3694:0.1329	.	305;305	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	Q	305	ENSP00000236980:E305Q;ENSP00000385990:E305Q;ENSP00000384929:E305Q	ENSP00000236980:E305Q	E	+	1	0	FASTKD2	207344182	0.986000	0.35501	0.312000	0.25196	0.795000	0.44927	0.356000	0.20181	-0.138000	0.11434	0.305000	0.20034	GAA		0.308	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929		16	43	0	0	0	0.00499	0	16	43				
PIKFYVE	200576	broad.mit.edu	37	2	209141468	209141468	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:209141468G>T	ENST00000264380.4	+	4	513	c.355G>T	c.(355-357)Ggt>Tgt	p.G119C	PIKFYVE_ENST00000308862.6_Intron|PIKFYVE_ENST00000392202.3_Intron|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.G119C	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	119					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.G119C(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TACCTTTGGAGGTCATGACCC	0.428																																							uc002vcz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(355-357)GGT>TGT		phosphatidylinositol-3-phosphate 5-kinase type							105.0	102.0	103.0					2																	209141468		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209141468G>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.355G>T	2.37:g.209141468G>T	ENSP00000264380:p.Gly119Cys					PIKFYVE_uc010fun.1_Translation_Start_Site|PIKFYVE_uc002vcy.1_Missense_Mutation_p.G119C|PIKFYVE_uc002vcv.2_Intron|PIKFYVE_uc002vcw.2_Missense_Mutation_p.G119C|PIKFYVE_uc002vcx.2_Intron	p.G119C	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			4	513	+			119					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.355G>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969535	0.74246	.	.	ENSG00000115020	ENST00000264380;ENST00000407449;ENST00000422495;ENST00000452564	T;T;T;T	0.66099	1.53;-0.19;-0.11;1.7	5.83	4.94	0.65067	.	0.199856	0.44483	D	0.000447	T	0.59155	0.2173	N	0.14661	0.345	0.80722	D	1	D;P;D	0.69078	0.997;0.945;0.992	P;P;P	0.55667	0.781;0.525;0.667	T	0.64841	-0.6312	10	0.52906	T	0.07	-17.7791	15.2084	0.73198	0.0683:0.0:0.9317:0.0	.	119;119;119	Q9Y2I7;E9PDH4;Q08AR7	FYV1_HUMAN;.;.	C	119;119;131;119	ENSP00000264380:G119C;ENSP00000384356:G119C;ENSP00000414477:G131C;ENSP00000405736:G119C	ENSP00000264380:G119C	G	+	1	0	PIKFYVE	208849713	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.635000	0.46537	1.448000	0.47680	0.655000	0.94253	GGT		0.428	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		48	118	1	0	2.13384e-23	0.01441	2.80223e-23	48	118				
CXCR2P1	3580	broad.mit.edu	37	2	218925700	218925700	+	RNA	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:218925700A>T	ENST00000439871.1	-	0	680					NR_002712.1				chemokine (C-X-C motif) receptor 2 pseudogene 1																		TGGCATGGACAATGGCCAGGT	0.537																																							uc002vgx.2		NA																	0					0						c.(19-21)ATT>ATA		Homo sapiens interleukin 8 receptor, beta pseudogene, mRNA (cDNA clone IMAGE:5450999), with apparent retained intron.																																						3580							g.chr2:218925700A>T	M98335		2q35	2012-05-02	2010-04-14	2010-04-14	ENSG00000229754	ENSG00000229754			6028	pseudogene	pseudogene			"""interleukin 8 receptor, beta pseudogene"", ""chemokine (C-X-C motif) receptor 2 pseudogene"""	IL8RBP, CXCR2P		1427896, 1303245	Standard	NR_002712		Approved		uc002vgx.3		OTTHUMG00000155244		2.37:g.218925700A>T						RUFY4_uc002vgw.2_Intron	p.I7I	NR_002712						1	314	-									Silent	SNP	ENST00000439871.1	37	c.21T>A																																																																																					0.537	CXCR2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338985.1	NR_002712		6	12	0	0	0	0.001984	0	6	12				
RHBDD1	84236	broad.mit.edu	37	2	227731981	227731981	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:227731981G>A	ENST00000341329.3	+	3	755	c.513G>A	c.(511-513)ccG>ccA	p.P171P	RHBDD1_ENST00000392062.2_Silent_p.P171P	NM_032276.3	NP_115652.2	Q8TEB9	RHBL4_HUMAN	rhomboid domain containing 1	171					apoptotic process (GO:0006915)|cellular response to unfolded protein (GO:0034620)|cellular response to UV (GO:0034644)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|membrane protein intracellular domain proteolysis (GO:0031293)|membrane protein proteolysis (GO:0033619)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein processing (GO:0010954)|positive regulation of secretion (GO:0051047)|post-translational protein modification (GO:0043687)|spermatid differentiation (GO:0048515)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)	p.P171P(3)		breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		TTCCTGTACCGAACAGATTTG	0.398																																							uc002voi.2		NA																	3	Substitution - coding silent(3)		lung(2)|breast(1)	ovary(1)	1						c.(511-513)CCG>CCA		rhomboid domain containing 1							252.0	241.0	245.0					2																	227731981		2203	4300	6503	SO:0001819	synonymous_variant	84236					integral to membrane	serine-type endopeptidase activity	g.chr2:227731981G>A	AK074258	CCDS2464.1	2q36.3	2012-07-09			ENSG00000144468	ENSG00000144468			23081	protein-coding gene	gene with protein product						12838346	Standard	NM_032276		Approved	DKFZp547E052	uc002voi.3	Q8TEB9	OTTHUMG00000133178	ENST00000341329.3:c.513G>A	2.37:g.227731981G>A						RHBDD1_uc010fxc.2_Silent_p.P171P	p.P171P	NM_032276	NP_115652	Q8TEB9	RHBD1_HUMAN		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)	3	634	+		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)	171					Q495B9|Q53S43|Q5EBM8|Q6P5V8|Q8IV60|Q9H057	Silent	SNP	ENST00000341329.3	37	c.513G>A	CCDS2464.1																																																																																				0.398	RHBDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256885.2			54	261	0	0	0	0.01441	0	54	261				
ALPP	250	broad.mit.edu	37	2	233245175	233245175	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:233245175C>T	ENST00000392027.2	+	7	1107	c.838C>T	c.(838-840)Ctg>Ttg	p.L280L	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	280					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GCAGGCTTCCCTGGACCCGTC	0.627																																							uc002vsq.2		NA																	0				ovary(1)	1						c.(838-840)CTG>TTG		placental alkaline phosphatase preproprotein							114.0	117.0	116.0					2																	233245175		2203	4300	6503	SO:0001819	synonymous_variant	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233245175C>T	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.838C>T	2.37:g.233245175C>T						ALPP_uc002vsr.2_5'Flank	p.L280L	NM_001632	NP_001623	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	7	1003	+		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)	280					P05188|P06861|Q53S78|Q96DB7	Silent	SNP	ENST00000392027.2	37	c.838C>T	CCDS2490.1																																																																																				0.627	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		8	247	0	0	0	0.010729	0	8	247				
SH3BP4	23677	broad.mit.edu	37	2	235951264	235951264	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:235951264C>T	ENST00000409212.1	+	4	2358	c.1851C>T	c.(1849-1851)atC>atT	p.I617I	SH3BP4_ENST00000392011.2_Silent_p.I617I|SH3BP4_ENST00000344528.4_Silent_p.I617I			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	617					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)	p.I617M(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		AAAGTGCCATCAAGCCTTCCG	0.547																																							uc002vvp.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(1849-1851)ATC>ATT		SH3-domain binding protein 4							56.0	54.0	55.0					2																	235951264		2203	4300	6503	SO:0001819	synonymous_variant	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235951264C>T	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.1851C>T	2.37:g.235951264C>T						SH3BP4_uc010fym.2_Silent_p.I617I|SH3BP4_uc002vvq.2_Silent_p.I617I	p.I617I	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	2244	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	617					O95082|Q309A3|Q53QD0|Q53TD1	Silent	SNP	ENST00000409212.1	37	c.1851C>T	CCDS2513.1																																																																																				0.547	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			8	93	0	0	0	0.00308	0	8	93				
GAL3ST2	64090	broad.mit.edu	37	2	242741438	242741438	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:242741438T>C	ENST00000192314.6	+	3	493	c.362T>C	c.(361-363)tTc>tCc	p.F121S	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	121					biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)	p.F121S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CACCTGAGGTTCAACCTGCCT	0.667																																							uc002wcj.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(361-363)TTC>TCC		galactose-3-O-sulfotransferase 2							23.0	24.0	24.0					2																	242741438		2199	4297	6496	SO:0001583	missense	64090				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	g.chr2:242741438T>C	AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"""Sulfotransferases, membrane-bound"""	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.362T>C	2.37:g.242741438T>C	ENSP00000192314:p.Phe121Ser						p.F121S	NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	3	493	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	121			Lumenal (Potential).		Q17RK0|Q57Z52	Missense_Mutation	SNP	ENST00000192314.6	37	c.362T>C	CCDS33427.1	.	.	.	.	.	.	.	.	.	.	T	17.64	3.439855	0.63067	.	.	ENSG00000154252	ENST00000192314	T	0.25749	1.78	3.8	3.8	0.43715	.	0.000000	0.64402	D	0.000005	T	0.59622	0.2207	M	0.93197	3.39	0.41581	D	0.988741	D	0.89917	1.0	D	0.97110	1.0	T	0.72127	-0.4384	10	0.87932	D	0	-20.8526	12.9906	0.58616	0.0:0.0:0.0:1.0	.	121	Q9H3Q3	G3ST2_HUMAN	S	121	ENSP00000192314:F121S	ENSP00000192314:F121S	F	+	2	0	GAL3ST2	242390111	1.000000	0.71417	0.885000	0.34714	0.440000	0.31957	6.932000	0.75869	1.719000	0.51432	0.255000	0.18592	TTC		0.667	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322792.1	NM_022134		14	25	0	0	0	0.020292	0	14	25				
GAL3ST2	64090	broad.mit.edu	37	2	242742789	242742789	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:242742789C>G	ENST00000192314.6	+	4	536	c.405C>G	c.(403-405)ttC>ttG	p.F135L	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	135					biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)	p.F135L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		ACGACACCTTCTACTTCTCCA	0.667																																							uc002wcj.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(403-405)TTC>TTG		galactose-3-O-sulfotransferase 2							48.0	46.0	47.0					2																	242742789		2203	4300	6503	SO:0001583	missense	64090				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	g.chr2:242742789C>G	AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"""Sulfotransferases, membrane-bound"""	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.405C>G	2.37:g.242742789C>G	ENSP00000192314:p.Phe135Leu						p.F135L	NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	4	536	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	135			Lumenal (Potential).		Q17RK0|Q57Z52	Missense_Mutation	SNP	ENST00000192314.6	37	c.405C>G	CCDS33427.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225984	0.58668	.	.	ENSG00000154252	ENST00000192314	T	0.12465	2.68	4.5	2.66	0.31614	.	0.512495	0.19378	N	0.115723	T	0.12263	0.0298	L	0.52126	1.63	0.29514	N	0.853996	B	0.17465	0.022	B	0.25987	0.065	T	0.32214	-0.9915	10	0.11182	T	0.66	-22.7637	9.1043	0.36687	0.1466:0.7753:0.0:0.0781	.	135	Q9H3Q3	G3ST2_HUMAN	L	135	ENSP00000192314:F135L	ENSP00000192314:F135L	F	+	3	2	GAL3ST2	242391462	0.992000	0.36948	1.000000	0.80357	0.960000	0.62799	1.635000	0.37134	0.434000	0.26340	0.449000	0.29647	TTC		0.667	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322792.1	NM_022134		7	18	0	0	0	0.00308	0	7	18				
NRSN2	80023	broad.mit.edu	37	20	334097	334097	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:334097G>A	ENST00000382291.3	+	4	673	c.433G>A	c.(433-435)Gac>Aac	p.D145N	NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000608736.1_Intron|NRSN2_ENST00000382285.2_Missense_Mutation_p.D145N	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	145						integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)		p.D145N(1)		endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				GCTGAGCCAGGACACCAAGGC	0.632																																							uc002wdi.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(433-435)GAC>AAC		neurensin 2							62.0	56.0	58.0					20																	334097		2203	4300	6503	SO:0001583	missense	80023					integral to membrane|plasma membrane|transport vesicle		g.chr20:334097G>A	AL136915	CCDS12996.1	20p13	2008-02-04	2006-07-04	2006-07-04	ENSG00000125841	ENSG00000125841			16229	protein-coding gene	gene with protein product		610666	"""chromosome 20 open reading frame 98"""	C20orf98		16527258	Standard	NM_024958		Approved	dJ1103G7.6	uc002wdi.4	Q9GZP1	OTTHUMG00000031628	ENST00000382291.3:c.433G>A	20.37:g.334097G>A	ENSP00000371728:p.Asp145Asn					NRSN2_uc002wdj.2_RNA|NRSN2_uc002wdl.2_Intron	p.D145N	NM_024958	NP_079234	Q9GZP1	NRSN2_HUMAN			4	971	+		all_cancers(10;0.0834)	145					A8K3B2|Q6FII5|Q9NUD3	Missense_Mutation	SNP	ENST00000382291.3	37	c.433G>A	CCDS12996.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338418	0.60963	.	.	ENSG00000125841	ENST00000382291;ENST00000382285	T;T	0.18016	2.24;2.24	4.66	3.63	0.41609	.	0.420985	0.23887	N	0.043581	T	0.15262	0.0368	L	0.56769	1.78	0.29772	N	0.834737	B	0.25563	0.129	B	0.23419	0.046	T	0.03433	-1.1037	10	0.30078	T	0.28	-26.4169	6.8915	0.24232	0.1276:0.0:0.8724:0.0	.	145	Q9GZP1	NRSN2_HUMAN	N	145	ENSP00000371728:D145N;ENSP00000371722:D145N	ENSP00000371722:D145N	D	+	1	0	NRSN2	282097	0.869000	0.29996	0.992000	0.48379	0.897000	0.52465	3.244000	0.51399	2.428000	0.82296	0.643000	0.83706	GAC		0.632	NRSN2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077446.1	NM_024958		6	112	0	0	0	0.00308	0	6	112				
ZNF343	79175	broad.mit.edu	37	20	2464027	2464027	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:2464027C>A	ENST00000278772.4	-	6	2067	c.1580G>T	c.(1579-1581)gGg>gTg	p.G527V	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	527					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.G527V(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						AAAGCCTCGCCCACATTCCCT	0.512																																							uc002wge.1		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1579-1581)GGG>GTG		zinc finger protein 343							129.0	114.0	119.0					20																	2464027		2203	4300	6503	SO:0001583	missense	79175				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:2464027C>A	AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"""Zinc fingers, C2H2-type"", ""-"""	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.1580G>T	20.37:g.2464027C>A	ENSP00000278772:p.Gly527Val					ZNF343_uc010gao.1_Missense_Mutation_p.G527V|ZNF343_uc002wgd.1_Missense_Mutation_p.G437V	p.G527V	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN			6	2068	-			527			C2H2-type 10.		Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Missense_Mutation	SNP	ENST00000278772.4	37	c.1580G>T	CCDS13028.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.970967	0.53614	.	.	ENSG00000088876	ENST00000278772	T	0.59906	0.23	2.76	1.79	0.24919	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.76234	0.3959	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.75855	-0.3170	9	0.87932	D	0	.	7.356	0.26719	0.0:0.8585:0.0:0.1415	.	527	Q6P1L6	ZN343_HUMAN	V	527	ENSP00000278772:G527V	ENSP00000278772:G527V	G	-	2	0	ZNF343	2412027	0.042000	0.20092	0.007000	0.13788	0.084000	0.17831	0.308000	0.19314	0.486000	0.27676	0.591000	0.81541	GGG		0.512	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325		47	95	1	0	2.40228e-13	0.013114	2.89752e-13	47	95				
C20orf194	25943	broad.mit.edu	37	20	3340199	3340199	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:3340199C>T	ENST00000252032.9	-	7	721	c.654G>A	c.(652-654)aaG>aaA	p.K218K	RNU6-1019P_ENST00000364424.1_RNA	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	218								p.K218K(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TAGGATCCATCTTGCTGTAGA	0.373																																							uc002wii.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(652-654)AAG>AAA		hypothetical protein LOC25943							97.0	86.0	89.0					20																	3340199		1866	4121	5987	SO:0001819	synonymous_variant	25943							g.chr20:3340199C>T	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.654G>A	20.37:g.3340199C>T						C20orf194_uc002wik.2_5'UTR|C20orf194_uc010gay.1_RNA	p.K218K	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN			7	705	-			218					Q66K86|Q6P2R9|Q9UFX9	Silent	SNP	ENST00000252032.9	37	c.654G>A	CCDS42851.1																																																																																				0.373	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984		6	79	0	0	0	0.001168	0	6	79				
ATRN	8455	broad.mit.edu	37	20	3529820	3529820	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:3529820C>A	ENST00000262919.5	+	6	1015	c.947C>A	c.(946-948)cCt>cAt	p.P316H	ATRN_ENST00000446916.2_Missense_Mutation_p.P316H	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	316					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.P316H(2)		breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TTATTAGGTCCTGGATGTTCA	0.333																																							uc002wim.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(946-948)CCT>CAT		attractin isoform 1							128.0	126.0	127.0					20																	3529820		2203	4300	6503	SO:0001583	missense	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3529820C>A	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.947C>A	20.37:g.3529820C>A	ENSP00000262919:p.Pro316His					ATRN_uc002wil.2_Missense_Mutation_p.P316H	p.P316H	NM_139321	NP_647537	O75882	ATRN_HUMAN			6	1037	+			316			Extracellular (Potential).		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	c.947C>A	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.790722	0.70452	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.05925	3.37;3.44	5.39	5.39	0.77823	EGF-like region, conserved site (1);	0.232564	0.43110	D	0.000619	T	0.22627	0.0546	M	0.62016	1.91	0.52501	D	0.999953	D;D	0.76494	0.966;0.999	P;D	0.65874	0.76;0.939	T	0.00029	-1.2294	10	0.48119	T	0.1	-12.3777	18.929	0.92556	0.0:1.0:0.0:0.0	.	316;316	O75882;O75882-2	ATRN_HUMAN;.	H	316;316;242	ENSP00000262919:P316H;ENSP00000416587:P316H	ENSP00000262919:P316H	P	+	2	0	ATRN	3477820	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.466000	0.60148	2.809000	0.96659	0.655000	0.94253	CCT		0.333	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		62	119	1	0	1.80625e-27	0.01441	2.40425e-27	62	119				
SIGLEC1	6614	broad.mit.edu	37	20	3672716	3672716	+	Silent	SNP	C	C	A	rs547843244		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:3672716C>A	ENST00000344754.4	-	16	4163	c.4164G>T	c.(4162-4164)acG>acT	p.T1388T	SIGLEC1_ENST00000202578.4_Silent_p.T1388T	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1388	Ig-like C2-type 14.				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.T1388T(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						CCCCGCTGCTCGTGGCCAGCA	0.617																																							uc002wja.2		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						c.(4162-4164)ACG>ACT		sialoadhesin precursor							48.0	38.0	41.0					20																	3672716		2201	4300	6501	SO:0001819	synonymous_variant	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3672716C>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.4164G>T	20.37:g.3672716C>A						SIGLEC1_uc002wjb.1_Silent_p.T27T|SIGLEC1_uc002wiz.3_Silent_p.T1388T	p.T1388T	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN			16	4164	-			1388			Ig-like C2-type 14.|Extracellular (Potential).		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	ENST00000344754.4	37	c.4164G>T	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.400255	0.01165	.	.	ENSG00000088827	ENST00000419548	.	.	.	5.37	-4.34	0.03666	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4755	0.27374	0.2506:0.3315:0.4179:0.0	.	.	.	.	X	202	.	.	E	-	1	0	SIGLEC1	3620716	0.543000	0.26434	0.109000	0.21407	0.008000	0.06430	0.067000	0.14510	-0.602000	0.05775	-1.384000	0.01168	GAG		0.617	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		5	35	1	0	0.000602214	0.014758	0.000627841	5	35				
SSTR4	6754	broad.mit.edu	37	20	23016252	23016252	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:23016252G>T	ENST00000255008.3	+	1	196	c.132G>T	c.(130-132)gcG>gcT	p.A44A	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	44					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.A44A(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					acgcgcgggcggcgggcATGG	0.711																																					Esophageal Squamous(15;850 1104 16640)	Esophageal Squamous(15;850 1104 16640)	uc002wsr.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(130-132)GCG>GCT		somatostatin receptor 4							32.0	42.0	39.0					20																	23016252		2156	4259	6415	SO:0001819	synonymous_variant	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016252G>T		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.132G>T	20.37:g.23016252G>T							p.A44A	NM_001052	NP_001043	P31391	SSR4_HUMAN			1	196	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		44			Extracellular (Potential).		Q17RM1|Q17RM3|Q9UIY1	Silent	SNP	ENST00000255008.3	37	c.132G>T	CCDS42856.1																																																																																				0.711	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			18	32	1	0	9.16793e-09	0.00499	1.04018e-08	18	32				
BPIFB3	359710	broad.mit.edu	37	20	31661396	31661396	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:31661396G>T	ENST00000375494.3	+	15	1416	c.1416G>T	c.(1414-1416)ctG>ctT	p.L472L		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	472					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.L472L(2)									CTGTTGTGCTGACCGTGGCAT	0.557																																							uc002wym.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)	4						c.(1414-1416)CTG>CTT		antimicrobial peptide RYA3 precursor							238.0	183.0	202.0					20																	31661396		2203	4300	6503	SO:0001819	synonymous_variant	359710				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	g.chr20:31661396G>T	AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.1416G>T	20.37:g.31661396G>T							p.L472L	NM_182658	NP_872599	P59826	LPLC3_HUMAN			15	1416	+			472					Q5TDX7	Silent	SNP	ENST00000375494.3	37	c.1416G>T	CCDS13212.1																																																																																				0.557	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		34	116	1	0	9.8876e-21	0.021022	1.27919e-20	34	116				
BPIFB4	149954	broad.mit.edu	37	20	31680430	31680430	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:31680430A>T	ENST00000375483.3	+	9	1310	c.1310A>T	c.(1309-1311)cAg>cTg	p.Q437L		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	437						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.Q398L(1)									CTGCAGAAGCAGCATGCTCTA	0.592																																							uc010zue.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1309-1311)CAG>CTG		antimicrobial peptide RY2G5 precursor							89.0	83.0	85.0					20																	31680430		2203	4300	6503	SO:0001583	missense	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31680430A>T	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1310A>T	20.37:g.31680430A>T	ENSP00000364632:p.Gln437Leu						p.Q437L	NM_182519	NP_872325	P59827	LPLC4_HUMAN			9	1325	+			437					Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	c.1310A>T	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	A	9.842	1.191416	0.21954	.	.	ENSG00000186191	ENST00000375483	T	0.10288	2.89	5.0	5.0	0.66597	.	1.083240	0.07031	N	0.828448	T	0.13243	0.0321	L	0.54323	1.7	0.21604	N	0.999626	P	0.39157	0.662	B	0.33846	0.171	T	0.22243	-1.0222	9	.	.	.	0.0703	11.4293	0.50029	1.0:0.0:0.0:0.0	.	437	P59827	BPIB4_HUMAN	L	437	ENSP00000364632:Q437L	.	Q	+	2	0	BPIFB4	31144091	0.702000	0.27816	0.248000	0.24265	0.015000	0.08874	5.112000	0.64634	2.011000	0.59026	0.444000	0.29173	CAG		0.592	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		64	131	0	0	0	0.01441	0	64	131				
EPB41L1	2036	broad.mit.edu	37	20	34802331	34802331	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:34802331C>G	ENST00000338074.2	+	17	2398	c.2237C>G	c.(2236-2238)tCc>tGc	p.S746C	EPB41L1_ENST00000373941.1_Missense_Mutation_p.S745C|EPB41L1_ENST00000373950.2_Missense_Mutation_p.S637C|EPB41L1_ENST00000373946.3_Missense_Mutation_p.S566C|EPB41L1_ENST00000441639.1_Intron|EPB41L1_ENST00000202028.5_Intron	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	746	C-terminal (CTD).				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					ACCACTCCCTCCATCACCACG	0.582																																							uc002xfb.2		NA																	0				ovary(2)|pancreas(1)	3						c.(2236-2238)TCC>TGC		erythrocyte membrane protein band 4.1-like 1							93.0	71.0	78.0					20																	34802331		2203	4300	6503	SO:0001583	missense	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34802331C>G	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.2237C>G	20.37:g.34802331C>G	ENSP00000337168:p.Ser746Cys					EPB41L1_uc002xeu.2_Intron|EPB41L1_uc010zvo.1_Intron|EPB41L1_uc002xev.2_Missense_Mutation_p.S745C|EPB41L1_uc002xew.2_Missense_Mutation_p.S637C|EPB41L1_uc002xex.2_Missense_Mutation_p.S566C|EPB41L1_uc002xey.2_Intron|EPB41L1_uc002xez.2_Intron|EPB41L1_uc010gfq.2_Missense_Mutation_p.S844C	p.S746C	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN			17	2408	+	Breast(12;0.0239)		746			Carboxyl-terminal (CTD).		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	c.2237C>G	CCDS13271.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.99|13.99	2.401189|2.401189	0.42613|0.42613	.|.	.|.	ENSG00000088367|ENSG00000088367	ENST00000451082;ENST00000432603|ENST00000373950;ENST00000373951;ENST00000373946;ENST00000338074;ENST00000373941;ENST00000454226	.|D;D;D;D	.|0.84223	.|-1.7;-1.82;-1.77;-1.76	5.24|5.24	4.28|4.28	0.50868|0.50868	.|.	.|.	.|.	.|.	.|.	T|T	0.72153|0.72153	0.3425|0.3425	N|N	0.11560|0.11560	0.145|0.145	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.06786	.|0.0;0.0;0.0;0.001	.|B;B;B;B	.|0.04013	.|0.0;0.001;0.001;0.001	T|T	0.66448|0.66448	-0.5921|-0.5921	5|9	.|0.39692	.|T	.|0.17	.|.	12.8764|12.8764	0.57991|0.57991	0.0:0.8293:0.1707:0.0|0.0:0.8293:0.1707:0.0	.|.	.|746;566;637;637	.|Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6	.|E41L1_HUMAN;.;.;.	A|C	174;13|637;637;566;746;745;107	.|ENSP00000363061:S637C;ENSP00000363057:S566C;ENSP00000337168:S746C;ENSP00000363052:S745C	.|ENSP00000337168:S746C	P|S	+|+	1|2	0|0	EPB41L1|EPB41L1	34265745|34265745	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.047000|2.047000	0.41269|0.41269	1.294000|1.294000	0.44707|0.44707	0.462000|0.462000	0.41574|0.41574	CCA|TCC		0.582	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		3	90	0	0	0	0.004672	0	3	90				
EMILIN3	90187	broad.mit.edu	37	20	39990391	39990391	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:39990391G>T	ENST00000332312.3	-	4	2010	c.1818C>A	c.(1816-1818)agC>agA	p.S606R		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	606						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)		p.S606R(2)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CAGAGTACTGGCTGACAGAGT	0.582																																							uc002xjy.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1816-1818)AGC>AGA		elastin microfibril interfacer 3							82.0	70.0	74.0					20																	39990391		2203	4300	6503	SO:0001583	missense	90187					proteinaceous extracellular matrix		g.chr20:39990391G>T	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"""EMI domain containing"""	16123	protein-coding gene	gene with protein product	"""chromosome 20 open reading frame 130"""	608929	"""elastin microfibril interfacer 5"""	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.1818C>A	20.37:g.39990391G>T	ENSP00000332806:p.Ser606Arg						p.S606R	NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN			4	2042	-		Myeloproliferative disorder(115;0.00425)	606					Q495S5|Q495S6|Q495S7|Q76KT4	Missense_Mutation	SNP	ENST00000332312.3	37	c.1818C>A	CCDS13316.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.088610	0.55968	.	.	ENSG00000183798	ENST00000332312	T	0.78126	-1.15	4.86	2.88	0.33553	.	0.318283	0.34025	N	0.004321	T	0.78704	0.4325	L	0.53249	1.67	0.38784	D	0.954821	D	0.64830	0.994	P	0.57911	0.829	T	0.77335	-0.2626	9	.	.	.	-27.0187	6.1951	0.20546	0.2254:0.1328:0.6418:0.0	.	606	Q9NT22	EMIL3_HUMAN	R	606	ENSP00000332806:S606R	.	S	-	3	2	EMILIN3	39423805	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.368000	0.34216	1.039000	0.40074	0.561000	0.74099	AGC		0.582	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	XM_029741		62	105	1	0	3.00472e-47	0.01441	4.22927e-47	62	105				
PIGT	51604	broad.mit.edu	37	20	44047576	44047576	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:44047576A>T	ENST00000279036.6	+	3	530	c.450A>T	c.(448-450)acA>acT	p.T150T	PIGT_ENST00000535404.1_Missense_Mutation_p.Q29L|PIGT_ENST00000545755.1_Intron|PIGT_ENST00000372689.5_Silent_p.T150T|PIGT_ENST00000341555.5_Intron|PIGT_ENST00000543458.2_Intron|PIGT_ENST00000279035.9_Intron	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	150					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)	p.T150T(4)		breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CCACCAACACAGTCACTCCCA	0.512																																							uc002xoh.1		NA																	4	Substitution - coding silent(4)		lung(4)	pancreas(1)	1						c.(448-450)ACA>ACT		phosphatidylinositol glycan anchor biosynthesis,							174.0	157.0	163.0					20																	44047576		2203	4300	6503	SO:0001819	synonymous_variant	51604				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr20:44047576A>T		CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"""Phosphatidylinositol glycan anchor biosynthesis"""	14938	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610272	"""phosphatidylinositol glycan, class T"""			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.450A>T	20.37:g.44047576A>T						PIGT_uc010ghb.1_Silent_p.T140T|PIGT_uc010zwt.1_Intron|PIGT_uc010ghd.1_Missense_Mutation_p.Q91L|PIGT_uc010ghc.1_Intron|PIGT_uc010ghe.1_Intron|PIGT_uc010ghf.1_Missense_Mutation_p.Q137L|PIGT_uc002xoj.1_Silent_p.T150T|PIGT_uc002xok.1_Silent_p.T150T|PIGT_uc010zwu.1_5'UTR|PIGT_uc002xoi.1_RNA|PIGT_uc010zwv.1_5'UTR|PIGT_uc010zww.1_Intron|PIGT_uc010zwx.1_Missense_Mutation_p.Q19L|PIGT_uc010zwy.1_Intron|PIGT_uc010zwz.1_Intron|PIGT_uc010zxa.1_Intron|PIGT_uc002xol.1_5'UTR|PIGT_uc010zxb.1_5'Flank	p.T150T	NM_015937	NP_057021	Q969N2	PIGT_HUMAN			3	523	+		Myeloproliferative disorder(115;0.0122)	150			Lumenal (Potential).		B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Silent	SNP	ENST00000279036.6	37	c.450A>T	CCDS13353.1	.	.	.	.	.	.	.	.	.	.	A	11.48	1.650429	0.29336	.	.	ENSG00000124155	ENST00000535404	T	0.44083	0.93	5.64	-11.3	0.00108	.	.	.	.	.	T	0.27098	0.0664	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41052	-0.9530	8	0.87932	D	0	-14.4675	8.9026	0.35503	0.5446:0.3126:0.0756:0.0673	.	29	F5GWY0	.	L	29	ENSP00000440528:Q29L	ENSP00000440528:Q29L	Q	+	2	0	PIGT	43480990	0.000000	0.05858	0.067000	0.19924	0.941000	0.58515	-6.294000	0.00072	-3.285000	0.00196	-1.709000	0.00716	CAG		0.512	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2	NM_015937		61	168	0	0	0	0.01441	0	61	168				
WFDC11	259239	broad.mit.edu	37	20	44278014	44278014	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:44278014C>T	ENST00000356562.2	-	4	346	c.125G>A	c.(124-126)tGc>tAc	p.C42Y	WFDC11_ENST00000324384.3_Missense_Mutation_p.C42Y			Q8NEX6	WFD11_HUMAN	WAP four-disulfide core domain 11	42						extracellular region (GO:0005576)		p.C42Y(2)		endometrium(1)|lung(4)	5		Myeloproliferative disorder(115;0.0122)				CTTTCCCCAGCATTCTTCAAG	0.393																																							uc002xpa.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(124-126)TGC>TAC		WAP four-disulfide core domain 11 precursor							171.0	155.0	161.0					20																	44278014		2203	4300	6503	SO:0001583	missense	259239					extracellular region		g.chr20:44278014C>T	AY047609	CCDS13364.1	20q13.12	2013-01-21			ENSG00000180083	ENSG00000180083		"""WAP four-disulfide core domain containing"""	20478	protein-coding gene	gene with protein product						12206714	Standard	NM_147197		Approved	WAP11	uc002xpa.3	Q8NEX6	OTTHUMG00000046330	ENST00000356562.2:c.125G>A	20.37:g.44278014C>T	ENSP00000348968:p.Cys42Tyr						p.C42Y	NM_147197	NP_671730	Q8NEX6	WFD11_HUMAN			4	320	-		Myeloproliferative disorder(115;0.0122)	42					E1P624|Q5TGZ6	Missense_Mutation	SNP	ENST00000356562.2	37	c.125G>A	CCDS13364.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.142428	0.57044	.	.	ENSG00000180083	ENST00000356562;ENST00000324384	T;T	0.60299	0.2;0.2	4.05	4.05	0.47172	.	0.000000	0.44483	D	0.000447	T	0.73369	0.3578	.	.	.	0.36147	D	0.847172	D	0.89917	1.0	D	0.91635	0.999	T	0.80434	-0.1384	9	0.87932	D	0	0.0131	12.0356	0.53423	0.0:1.0:0.0:0.0	.	42	Q8NEX6	WFD11_HUMAN	Y	42	ENSP00000348968:C42Y;ENSP00000318753:C42Y	ENSP00000318753:C42Y	C	-	2	0	WFDC11	43711428	0.998000	0.40836	0.996000	0.52242	0.043000	0.13939	2.506000	0.45433	2.561000	0.86390	0.650000	0.86243	TGC		0.393	WFDC11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106943.1			66	163	0	0	0	0.01441	0	66	163				
SLC12A5	57468	broad.mit.edu	37	20	44671860	44671860	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:44671860C>A	ENST00000454036.2	+	9	1253	c.1204C>A	c.(1204-1206)Ctg>Atg	p.L402M	SLC12A5_ENST00000243964.3_Missense_Mutation_p.L379M	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	402					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.L379M(2)		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)	CTCGGTGGGCCTGGCCGATGG	0.577																																							uc010zxl.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(1204-1206)CTG>ATG		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						265.0	226.0	239.0					20																	44671860		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44671860C>A	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.1204C>A	20.37:g.44671860C>A	ENSP00000387694:p.Leu402Met					SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.L379M	p.L402M	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			9	1280	+		Myeloproliferative disorder(115;0.0122)	402			Cytoplasmic (Potential).		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.1204C>A	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.659107	0.29515	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.84800	-1.9;-1.89	4.47	1.49	0.22878	.	0.655273	0.14612	N	0.308996	T	0.73071	0.3540	N	0.19112	0.55	0.58432	D	0.999999	B;P	0.36768	0.434;0.569	B;B	0.37198	0.243;0.213	T	0.64313	-0.6437	10	0.38643	T	0.18	.	8.7959	0.34878	0.0:0.6725:0.0:0.3275	.	402;379	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	M	402;379	ENSP00000387694:L402M;ENSP00000243964:L379M	ENSP00000243964:L379M	L	+	1	2	SLC12A5	44105267	0.000000	0.05858	0.946000	0.38457	0.714000	0.41099	0.155000	0.16362	0.249000	0.21456	0.462000	0.41574	CTG		0.577	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			64	553	1	0	3.4266e-16	0.01441	4.23731e-16	64	553				
DPM1	8813	broad.mit.edu	37	20	49558641	49558641	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:49558641C>T	ENST00000371588.5	-	6	447	c.421G>A	c.(421-423)Gat>Aat	p.D141N	DPM1_ENST00000371583.5_Intron|DPM1_ENST00000466152.1_5'UTR|RP5-914P20.5_ENST00000558899.2_RNA|DPM1_ENST00000371582.4_Missense_Mutation_p.D141N	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	141					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						GAGACAATATCAAAATTACCC	0.353																																							uc002xvw.1		NA																	0				ovary(1)	1						c.(421-423)GAT>AAT		dolichyl-phosphate mannosyltransferase 1							192.0	182.0	185.0					20																	49558641		2203	4300	6503	SO:0001583	missense	8813				C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding	g.chr20:49558641C>T	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742	ENST00000371588.5:c.421G>A	20.37:g.49558641C>T	ENSP00000360644:p.Asp141Asn					DPM1_uc002xvv.1_Missense_Mutation_p.D36N|DPM1_uc002xvx.1_RNA	p.D141N	NM_003859	NP_003850	O60762	DPM1_HUMAN			6	421	-			141					O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	ENST00000371588.5	37	c.421G>A	CCDS13434.1	.	.	.	.	.	.	.	.	.	.	C	33	5.285733	0.95517	.	.	ENSG00000000419	ENST00000371588;ENST00000371582;ENST00000449701	T;T	0.64085	-0.08;-0.08	5.25	5.25	0.73442	Glycosyl transferase, family 2 (1);	0.091723	0.64402	D	0.000001	D	0.88093	0.6344	H	0.98980	4.39	0.80722	D	1	D;D	0.62365	0.984;0.991	D;D	0.73708	0.981;0.978	D	0.92652	0.6134	9	.	.	.	-19.5459	18.6198	0.91317	0.0:1.0:0.0:0.0	.	141;141	O60762;E9PBD4	DPM1_HUMAN;.	N	141	ENSP00000360644:D141N;ENSP00000360638:D141N	.	D	-	1	0	DPM1	48992048	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.135000	0.77276	2.729000	0.93468	0.585000	0.79938	GAT		0.353	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		9	161	0	0	0	0.008291	0	9	161				
TSHZ2	128553	broad.mit.edu	37	20	51871901	51871901	+	Missense_Mutation	SNP	G	G	A	rs139065096	byFrequency	TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:51871901G>A	ENST00000371497.5	+	2	2791	c.1904G>A	c.(1903-1905)cGc>cAc	p.R635H	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.R632H|TSHZ2_ENST00000603338.2_Missense_Mutation_p.R632H	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	635					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GATTCTTTCCGCAAAAGTGAA	0.522													G|||	4	0.000798722	0.003	0.0	5008	,	,		18672	0.0		0.0	False		,,,				2504	0.0						uc002xwo.2		NA																	0				ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(1903-1905)CGC>CAC		teashirt zinc finger homeobox 2		G	HIS/ARG,HIS/ARG	16,4390	23.3+/-48.9	0,16,2187	59.0	64.0	62.0		1895,1904	3.3	0.8	20	dbSNP_134	62	0,8600		0,0,4300	yes	missense,missense	TSHZ2	NM_001193421.1,NM_173485.5	29,29	0,16,6487	AA,AG,GG		0.0,0.3631,0.123	benign,benign	632/1032,635/1035	51871901	16,12990	2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51871901G>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1904G>A	20.37:g.51871901G>A	ENSP00000360552:p.Arg635His						p.R635H	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	2860	+			635					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.1904G>A	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	3.465	-0.109141	0.06924	0.003631	0.0	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.37235	1.21;1.21	5.24	3.28	0.37604	.	0.847642	0.10778	N	0.635212	T	0.23171	0.0560	N	0.14661	0.345	0.23120	N	0.998263	B	0.15930	0.015	B	0.04013	0.001	T	0.20874	-1.0262	10	0.52906	T	0.07	-14.708	9.6221	0.39727	0.0:0.6412:0.2791:0.0797	.	635	Q9NRE2	TSH2_HUMAN	H	635;632;161	ENSP00000360552:R635H;ENSP00000333114:R632H	ENSP00000333114:R632H	R	+	2	0	TSHZ2	51305308	0.989000	0.36119	0.813000	0.32504	0.008000	0.06430	1.194000	0.32174	0.589000	0.29677	-0.178000	0.13098	CGC		0.522	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		9	156	0	0	0	0.004482	0	9	156				
PHACTR3	116154	broad.mit.edu	37	20	58318161	58318161	+	Splice_Site	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:58318161G>A	ENST00000371015.1	+	2	585		c.e2-1		PHACTR3_ENST00000395636.2_Splice_Site|PHACTR3_ENST00000361300.4_Splice_Site|PHACTR3_ENST00000541461.1_Splice_Site|PHACTR3_ENST00000355648.4_Splice_Site|PHACTR3_ENST00000395639.4_Splice_Site|PHACTR3_ENST00000359926.3_Splice_Site	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3							nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.?(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TCGTCTTCCAGATGAGATGGA	0.587																																							uc002yau.2		NA																	2	Unknown(2)		lung(2)	ovary(2)|pancreas(1)	3						c.e2-1		phosphatase and actin regulator 3 isoform 1							91.0	102.0	98.0					20																	58318161		2203	4300	6503	SO:0001630	splice_region_variant	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58318161G>A	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.119-1G>A	20.37:g.58318161G>A						PHACTR3_uc002yat.2_Splice_Site_p.D37_splice|PHACTR3_uc010zzw.1_Splice_Site|PHACTR3_uc002yav.2_Splice_Site|PHACTR3_uc002yaw.2_Splice_Site|PHACTR3_uc002yax.2_Splice_Site	p.D40_splice	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		2	586	+	all_lung(29;0.00344)							B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Splice_Site	SNP	ENST00000371015.1	37	c.119_splice	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109724	0.37242	.	.	ENSG00000087495	ENST00000359926;ENST00000434923;ENST00000371015	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9695	0.80001	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PHACTR3	57751556	1.000000	0.71417	0.994000	0.49952	0.153000	0.21895	9.593000	0.98250	1.993000	0.58246	0.462000	0.41574	.		0.587	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672	Intron	102	211	0	0	0	0.01441	0	102	211				
LAMA5	3911	broad.mit.edu	37	20	60890128	60890128	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr20:60890128C>T	ENST00000252999.3	-	59	8069	c.8003G>A	c.(8002-8004)cGg>cAg	p.R2668Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2668	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|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)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)	p.R2668Q(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GTCCTGGCCCCGCAGGCCCTC	0.706																																							uc002ycq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(8002-8004)CGG>CAG		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60890128C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.8003G>A	20.37:g.60890128C>T	ENSP00000252999:p.Arg2668Gln						p.R2668Q	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		59	8070	-	Breast(26;1.57e-08)		2668			Potential.|Domain II and I.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.8003G>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	c	0.227	-1.023723	0.02061	.	.	ENSG00000130702	ENST00000252999	T	0.41065	1.01	4.02	-3.12	0.05282	Laminin II (1);	0.445847	0.22323	N	0.061566	T	0.17408	0.0418	N	0.13098	0.295	0.39286	D	0.96464	B	0.06786	0.001	B	0.09377	0.004	T	0.41928	-0.9481	10	0.02654	T	1	.	10.1958	0.43054	0.0:0.5008:0.0:0.4992	.	2668	O15230	LAMA5_HUMAN	Q	2668	ENSP00000252999:R2668Q	ENSP00000252999:R2668Q	R	-	2	0	LAMA5	60323523	0.000000	0.05858	0.905000	0.35620	0.183000	0.23260	-0.841000	0.04359	-0.648000	0.05437	-0.461000	0.05368	CGG		0.706	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		9	40	0	0	0	0.004482	0	9	40				
C21orf62	56245	broad.mit.edu	37	21	34166538	34166538	+	Silent	SNP	G	G	A	rs200043583		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr21:34166538G>A	ENST00000536776.1	-	2	335	c.195C>T	c.(193-195)acC>acT	p.T65T	C21orf49_ENST00000382375.4_Intron|C21orf49_ENST00000477513.1_Intron|C21orf49_ENST00000382378.1_Intron|C21orf62_ENST00000479548.1_Silent_p.T65T|C21orf62_ENST00000490358.1_Silent_p.T65T|C21orf49_ENST00000382377.3_Intron|C21orf62_ENST00000487113.1_Silent_p.T65T|C21orf49_ENST00000453404.1_Intron	NM_001162495.2|NM_001162496.2|NM_019596.5	NP_001155967.2|NP_001155968.2|NP_062542.5	Q9NYP8	CU062_HUMAN	chromosome 21 open reading frame 62	65										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	6		Myeloproliferative disorder(46;0.0255)				GGGGCAGGACGGTTTTACAGT	0.537																																							uc010glz.2		NA																	0				ovary(1)	1						c.(193-195)ACC>ACT		hypothetical protein LOC56245		G	,,	1,4221		0,1,2110	121.0	122.0	122.0		195,195,195	-10.7	0.0	21		122	0,8436		0,0,4218	no	coding-synonymous,coding-synonymous,coding-synonymous	C21orf62	NM_001162495.2,NM_001162496.2,NM_019596.5	,,	0,1,6328	AA,AG,GG		0.0,0.0237,0.0079	,,	65/220,65/220,65/220	34166538	1,12657	2111	4218	6329	SO:0001819	synonymous_variant	56245							g.chr21:34166538G>A	AF231922	CCDS42919.1, CCDS42919.2	21q22.1	2011-02-24			ENSG00000205929	ENSG00000205929			1305	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 120"""	C21orf120			Standard	NM_001162495		Approved	B37, PRED81	uc011adu.2	Q9NYP8	OTTHUMG00000163477	ENST00000536776.1:c.195C>T	21.37:g.34166538G>A						C21orf49_uc002yqs.2_Intron|C21orf49_uc002yqu.3_Intron|C21orf49_uc002yqt.2_Intron|C21orf62_uc011adt.1_Silent_p.T65T|C21orf62_uc011adu.1_Silent_p.T65T	p.T65T	NM_001162495	NP_001155967	Q9NYP8	CU062_HUMAN			4	567	-		Myeloproliferative disorder(46;0.0255)	65					A8K4L8	Silent	SNP	ENST00000536776.1	37	c.195C>T	CCDS42919.2																																																																																				0.537	C21orf62-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139598.5	NM_019596		11	123	0	0	0	0.008291	0	11	123				
KRTAP10-2	386679	broad.mit.edu	37	21	45970637	45970637	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr21:45970637G>C	ENST00000391621.1	-	1	751	c.705C>G	c.(703-705)tgC>tgG	p.C235W	KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	235						keratin filament (GO:0045095)		p.C235W(2)		large_intestine(1)|lung(4)|skin(1)	6						ACACGGGGCGGCAGAGGAGGG	0.672																																							uc002zfi.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(703-705)TGC>TGG		keratin associated protein 10-2							66.0	77.0	73.0					21																	45970637		2203	4300	6503	SO:0001583	missense	386679					keratin filament		g.chr21:45970637G>C	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"""Keratin associated proteins"""	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.705C>G	21.37:g.45970637G>C	ENSP00000375479:p.Cys235Trp					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.C235W	NM_198693	NP_941966	P60368	KR102_HUMAN			1	752	-			235					Q70LJ5	Missense_Mutation	SNP	ENST00000391621.1	37	c.705C>G	CCDS42955.1	.	.	.	.	.	.	.	.	.	.	g	7.713	0.695537	0.15106	.	.	ENSG00000205445	ENST00000391621	T	0.03330	3.97	3.55	3.55	0.40652	.	.	.	.	.	T	0.20414	0.0491	M	0.93150	3.385	0.44677	D	0.997662	D	0.89917	1.0	D	0.74348	0.983	T	0.00601	-1.1650	9	0.72032	D	0.01	.	6.6967	0.23203	0.1311:0.0:0.8689:0.0	.	235	P60368	KR102_HUMAN	W	235	ENSP00000375479:C235W	ENSP00000375479:C235W	C	-	3	2	KRTAP10-2	44795065	0.997000	0.39634	0.168000	0.22838	0.338000	0.28826	6.020000	0.70826	1.799000	0.52666	0.457000	0.33378	TGC		0.672	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			59	69	0	0	0	0.01441	0	59	69				
PCNT	5116	broad.mit.edu	37	21	47786561	47786561	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr21:47786561A>G	ENST00000359568.5	+	15	2779	c.2672A>G	c.(2671-2673)cAg>cGg	p.Q891R	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	891				Missing (in Ref. 1; AAD10838). {ECO:0000305}.	brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCCTTCCTGCAGGAGGCCCAG	0.562																																							uc002zji.3		NA																	0				ovary(4)|breast(2)|pancreas(2)	8						c.(2671-2673)CAG>CGG		pericentrin							54.0	52.0	53.0					21																	47786561		2200	4295	6495	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47786561A>G	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.2672A>G	21.37:g.47786561A>G	ENSP00000352572:p.Gln891Arg					PCNT_uc002zjj.2_Missense_Mutation_p.Q773R	p.Q891R	NM_006031	NP_006022	O95613	PCNT_HUMAN			15	2779	+	Breast(49;0.112)		891	Missing (in Ref. 1; AAD10838).				O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.2672A>G	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.187899	0.00305	.	.	ENSG00000160299	ENST00000359568	T	0.01388	4.95	5.47	-4.1	0.03940	.	1.166280	0.06830	N	0.793792	T	0.00552	0.0018	N	0.01219	-0.95	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.46679	-0.9174	10	0.02654	T	1	.	7.6129	0.28142	0.5945:0.0:0.2884:0.1171	.	773;891	O95613-2;O95613	.;PCNT_HUMAN	R	891	ENSP00000352572:Q891R	ENSP00000352572:Q891R	Q	+	2	0	PCNT	46610989	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	-0.259000	0.08721	-0.907000	0.03862	-1.066000	0.02275	CAG		0.562	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		8	87	0	0	0	0.010729	0	8	87				
PRODH	5625	broad.mit.edu	37	22	18905888	18905888	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:18905888C>T	ENST00000357068.6	-	11	1633	c.1368G>A	c.(1366-1368)gaG>gaA	p.E456E	PRODH_ENST00000334029.2_Silent_p.E348E|PRODH_ENST00000420436.1_Silent_p.E348E	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	456				AE -> Q (in Ref. 7; AAC39529). {ECO:0000305}.	4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)	FAD binding (GO:0071949)|proline dehydrogenase activity (GO:0004657)	p.E456E(2)		breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	CATAGCCGATCTCTGCCGCAC	0.667																																							uc010grl.2		NA																	2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(1366-1368)GAG>GAA		proline dehydrogenase 1	L-Proline(DB00172)						129.0	121.0	124.0					22																	18905888		2203	4300	6503	SO:0001819	synonymous_variant	5625				glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity	g.chr22:18905888C>T	AF010310	CCDS13754.1, CCDS56223.1	22q11.2	2014-07-10	2001-12-05		ENSG00000100033	ENSG00000100033	1.5.5.2		9453	protein-coding gene	gene with protein product		606810	"""proline dehydrogenase (proline oxidase )"""			9385373, 10192398	Standard	NM_001195226		Approved	HSPOX2, PRODH1, PIG6, PRODH2, TP53I6	uc002zok.4	O43272	OTTHUMG00000150163	ENST00000357068.6:c.1368G>A	22.37:g.18905888C>T						PRODH_uc002zoj.3_Silent_p.E346E|PRODH_uc002zol.3_Silent_p.E346E|PRODH_uc002zok.3_Silent_p.E456E	p.E456E	NM_016335	NP_057419	O43272	PROD_HUMAN			11	1382	-			456	AE -> Q (in Ref. 7; AAC39529).				A6NF53|O14680|Q0P507|Q147W8|Q504W1|Q59FI8|Q6NV86|Q9UF13	Silent	SNP	ENST00000357068.6	37	c.1368G>A	CCDS13754.1																																																																																				0.667	PRODH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316637.2	NM_016335		23	121	0	0	0	0.014323	0	23	121				
LGALS2	3957	broad.mit.edu	37	22	37966600	37966600	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:37966600G>T	ENST00000215886.4	-	3	406	c.232C>A	c.(232-234)Cca>Aca	p.P78T		NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2	78	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)|galactoside binding (GO:0016936)	p.P78T(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					TCTGACCCTGGGCTGAAGCAC	0.582																																					GBM(193;1840 2185 13711 20676 24505)	GBM(193;1840 2185 13711 20676 24505)	uc003ata.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)|skin(1)	2						c.(232-234)CCA>ACA		lectin, galactoside-binding, soluble, 2							197.0	170.0	179.0					22																	37966600		2203	4300	6503	SO:0001583	missense	3957							g.chr22:37966600G>T		CCDS13950.1	22q13.1	2011-08-04	2007-02-01		ENSG00000100079	ENSG00000100079		"""Lectins, galactoside-binding"""	6562	protein-coding gene	gene with protein product	"""galectin 2"""	150571				1988031, 15356130	Standard	NM_006498		Approved	HL14	uc003ata.3	P05162	OTTHUMG00000150590	ENST00000215886.4:c.232C>A	22.37:g.37966600G>T	ENSP00000215886:p.Pro78Thr						p.P78T	NM_006498	NP_006489	P05162	LEG2_HUMAN			3	344	-	Melanoma(58;0.0574)		78			Galectin.		Q6FGY4	Missense_Mutation	SNP	ENST00000215886.4	37	c.232C>A	CCDS13950.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940007	0.52972	.	.	ENSG00000100079	ENST00000215886	T	0.05925	3.37	5.97	4.93	0.64822	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.515999	0.23817	N	0.044270	T	0.17066	0.0410	M	0.79343	2.45	0.09310	N	1	D	0.53462	0.96	P	0.50440	0.641	T	0.05801	-1.0863	10	0.62326	D	0.03	0.0012	13.8009	0.63199	0.0:0.0:0.7071:0.2928	.	78	P05162	LEG2_HUMAN	T	78	ENSP00000215886:P78T	ENSP00000215886:P78T	P	-	1	0	LGALS2	36296546	0.004000	0.15560	0.042000	0.18584	0.984000	0.73092	1.320000	0.33666	1.464000	0.47987	0.655000	0.94253	CCA		0.582	LGALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318991.1	NM_006498		103	236	1	0	8.87708e-63	0.01441	1.26769e-62	103	236				
GCAT	23464	broad.mit.edu	37	22	38212280	38212280	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:38212280G>T	ENST00000248924.6	+	8	1116	c.1060G>T	c.(1060-1062)Ggt>Tgt	p.G354C	GCAT_ENST00000323205.6_Missense_Mutation_p.G380C	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	354					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)	p.G354C(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	TGTGATGCTGGGTGATGCCCG	0.577																																							uc003atz.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1060-1062)GGT>TGT		glycine C-acetyltransferase precursor	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						61.0	51.0	54.0					22																	38212280		2203	4300	6503	SO:0001583	missense	23464				biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr22:38212280G>T	AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"""2-amino-3-ketobutyrate coenzyme A ligase"""	607422	"""glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"""				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.1060G>T	22.37:g.38212280G>T	ENSP00000248924:p.Gly354Cys					GCAT_uc003aua.1_Missense_Mutation_p.G380C	p.G354C	NM_014291	NP_055106	O75600	KBL_HUMAN			8	1080	+	Melanoma(58;0.045)		354					E2QC23|Q6ZWF1|Q96CA9	Missense_Mutation	SNP	ENST00000248924.6	37	c.1060G>T	CCDS13957.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819701	0.90873	.	.	ENSG00000100116	ENST00000323205;ENST00000248924	D;D	0.91124	-2.79;-2.79	4.92	4.92	0.64577	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.143824	0.64402	D	0.000006	D	0.97539	0.9194	H	0.98738	4.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.99078	1.0836	10	0.72032	D	0.01	-17.3682	18.2955	0.90145	0.0:0.0:1.0:0.0	.	380;354	E2QC23;O75600	.;KBL_HUMAN	C	380;354	ENSP00000371110:G380C;ENSP00000248924:G354C	ENSP00000248924:G354C	G	+	1	0	GCAT	36542226	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	8.955000	0.93058	2.576000	0.86940	0.561000	0.74099	GGT		0.577	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319506.1	NM_014291.2		18	115	1	0	1.67942e-08	0.006122	1.89176e-08	18	115				
PLA2G6	8398	broad.mit.edu	37	22	38512182	38512182	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:38512182C>T	ENST00000332509.3	-	13	1962	c.1779G>A	c.(1777-1779)ccG>ccA	p.P593P	PLA2G6_ENST00000402064.1_Silent_p.P539P|PLA2G6_ENST00000335539.3_Silent_p.P539P	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	593	Patatin.				cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GGAGTTCAGCCGGCTGCCGGT	0.602																																							uc003auy.1		NA																	0				ovary(1)	1						c.(1777-1779)CCG>CCA		phospholipase A2, group VI isoform a	Quinacrine(DB01103)						60.0	58.0	58.0					22																	38512182		2203	4300	6503	SO:0001819	synonymous_variant	8398				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		g.chr22:38512182C>T	AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.1779G>A	22.37:g.38512182C>T						PLA2G6_uc003auz.1_Silent_p.P539P|PLA2G6_uc003ava.1_Silent_p.P593P|PLA2G6_uc003avb.2_Silent_p.P539P|PLA2G6_uc010gxk.1_RNA|PLA2G6_uc003aux.1_5'Flank	p.P593P	NM_003560	NP_003551	O60733	PA2G6_HUMAN			13	1915	-	Melanoma(58;0.045)		593					A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Silent	SNP	ENST00000332509.3	37	c.1779G>A	CCDS13967.1																																																																																				0.602	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426		5	73	0	0	0	0.001168	0	5	73				
PRR5	55615	broad.mit.edu	37	22	45132764	45132764	+	Silent	SNP	G	G	A	rs372443410		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:45132764G>A	ENST00000336985.6	+	8	1081	c.804G>A	c.(802-804)gcG>gcA	p.A268A	PRR5_ENST00000403581.1_Silent_p.A291A|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5_ENST00000477331.1_3'UTR|PRR5-ARHGAP8_ENST00000352766.7_Intron|ARHGAP8_ENST00000517296.3_Intron|PRR5_ENST00000006251.7_Silent_p.A259A|ARHGAP8_ENST00000389773.5_Intron	NM_181333.3	NP_851850.1	P85299	PRR5_HUMAN	proline rich 5 (renal)	268					cell cycle (GO:0007049)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)	TORC2 complex (GO:0031932)				central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		AGCACGAGGCGGAGGGCGCGG	0.711																																							uc003bfb.1		NA																	0				skin(1)	1						c.(802-804)GCG>GCA		proline rich 5 (renal) isoform 1		G	,,,,,,	1,4359		0,1,2179	21.0	26.0	24.0		777,519,519,873,777,804,	-10.8	0.8	22		24	0,8540		0,0,4270	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron	PRR5,PRR5-ARHGAP8	NM_001017528.2,NM_001017529.2,NM_001017530.1,NM_001198721.1,NM_015366.3,NM_181333.3,NM_181334.4	,,,,,,	0,1,6449	AA,AG,GG		0.0,0.0229,0.0078	,,,,,,	259/380,173/294,173/294,291/412,259/380,268/389,	45132764	1,12899	2180	4270	6450	SO:0001819	synonymous_variant	55615				cell cycle			g.chr22:45132764G>A	AF177331	CCDS14058.1, CCDS14059.1, CCDS56232.1, CCDS74875.1	22q13.3	2011-02-10			ENSG00000186654	ENSG00000186654			31682	protein-coding gene	gene with protein product	"""protein observed with Rictor-1"""	609406				15718101, 17599906	Standard	NM_001017528		Approved	PP610, FLJ20185k, Protor-1		P85299	OTTHUMG00000150460	ENST00000336985.6:c.804G>A	22.37:g.45132764G>A						PRR5_uc003bew.1_Silent_p.A259A|PRR5_uc003bex.1_Silent_p.A173A|PRR5_uc010gzt.1_Silent_p.A291A|PRR5_uc010gzu.1_Silent_p.A232A|PRR5_uc003bey.1_Silent_p.A259A|PRR5_uc003bez.1_Silent_p.A173A|PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc003bfd.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|PRR5_uc003bfa.1_Silent_p.A161A|PRR5_uc003bfe.1_RNA|PRR5-ARHGAP8_uc003bfg.1_Intron|PRR5_uc003bfh.1_Silent_p.A167A	p.A268A	NM_181333	NP_851850	P85299	PRR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)	8	1076	+		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)	268					B1AHF6|B1AHG5|B3KP73|O75983|O95695|Q5BIW2|Q5EAJ8|Q5EAJ9|Q5XKJ6|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Silent	SNP	ENST00000336985.6	37	c.804G>A	CCDS14058.1	.	.	.	.	.	.	.	.	.	.	G	7.876	0.729168	0.15507	2.29E-4	0.0	ENSG00000186654	ENST00000455389	.	.	.	5.41	-10.8	0.00216	.	.	.	.	.	T	0.41003	0.1140	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50048	-0.8873	4	.	.	.	.	5.6936	0.17843	0.2861:0.2705:0.378:0.0654	.	.	.	.	Q	228	.	.	R	+	2	0	PRR5	43511428	0.000000	0.05858	0.753000	0.31225	0.431000	0.31685	-3.633000	0.00408	-1.517000	0.01780	-0.657000	0.03884	CGG		0.711	PRR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318200.2	NM_001017528		4	76	0	0	0	0.009096	0	4	76				
WNT7B	7477	broad.mit.edu	37	22	46319011	46319011	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:46319011T>A	ENST00000339464.4	-	4	1149	c.775A>T	c.(775-777)Agc>Tgc	p.S259C	WNT7B_ENST00000410089.1_Missense_Mutation_p.S243C|WNT7B_ENST00000409496.3_Missense_Mutation_p.S263C	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	259					activation of JUN kinase activity (GO:0007257)|anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular metabolic process (GO:0044237)|cellular response to retinoic acid (GO:0071300)|central nervous system vasculogenesis (GO:0022009)|chorio-allantoic fusion (GO:0060710)|developmental growth involved in morphogenesis (GO:0060560)|embryonic organ development (GO:0048568)|embryonic placenta morphogenesis (GO:0060669)|establishment or maintenance of polarity of embryonic epithelium (GO:0016332)|fibroblast proliferation (GO:0048144)|forebrain regionalization (GO:0021871)|homeostatic process (GO:0042592)|in utero embryonic development (GO:0001701)|inner medullary collecting duct development (GO:0072061)|lens fiber cell development (GO:0070307)|lobar bronchus development (GO:0060482)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung morphogenesis (GO:0060425)|lung-associated mesenchyme development (GO:0060484)|mammary gland epithelium development (GO:0061180)|metanephric collecting duct development (GO:0072205)|metanephric epithelium development (GO:0072207)|metanephric loop of Henle development (GO:0072236)|metanephros morphogenesis (GO:0003338)|negative regulation of smoothened signaling pathway (GO:0045879)|neuron differentiation (GO:0030182)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|outer medullary collecting duct development (GO:0072060)|oxygen homeostasis (GO:0032364)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of cell projection size (GO:0032536)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|response to glucocorticoid (GO:0051384)|smooth muscle cell differentiation (GO:0051145)|stem cell proliferation (GO:0072089)|synapse organization (GO:0050808)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.S259C(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		TTCTGATAGCTGCGCAGCTGT	0.652																																							uc003bgo.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(775-777)AGC>TGC		wingless-type MMTV integration site family,							64.0	59.0	61.0					22																	46319011		2203	4300	6503	SO:0001583	missense	7477				activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity	g.chr22:46319011T>A	AF416743	CCDS33667.1	22q13	2013-02-28			ENSG00000188064	ENSG00000188064		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12787	protein-coding gene	gene with protein product		601967				8168088, 9284940, 11562755	Standard	NM_058238		Approved		uc003bgo.2	P56706	OTTHUMG00000154636	ENST00000339464.4:c.775A>T	22.37:g.46319011T>A	ENSP00000341032:p.Ser259Cys					WNT7B_uc010haa.2_Missense_Mutation_p.S263C	p.S259C	NM_058238	NP_478679	P56706	WNT7B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)	4	1149	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	259					B8A596|Q96Q12	Missense_Mutation	SNP	ENST00000339464.4	37	c.775A>T	CCDS33667.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.933907	0.73442	.	.	ENSG00000188064	ENST00000339464;ENST00000410089;ENST00000409496	T;T;T	0.77877	-1.13;-1.07;-1.13	3.93	3.93	0.45458	.	0.058248	0.64402	U	0.000002	D	0.85124	0.5625	M	0.79926	2.475	0.80722	D	1	D;D	0.56035	0.974;0.974	P;P	0.58391	0.838;0.838	D	0.86420	0.1754	10	0.56958	D	0.05	.	11.9823	0.53127	0.0:0.0:0.0:1.0	.	263;259	A8K0G1;P56706	.;WNT7B_HUMAN	C	259;243;263	ENSP00000341032:S259C;ENSP00000386781:S243C;ENSP00000386546:S263C	ENSP00000341032:S259C	S	-	1	0	WNT7B	44697675	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	3.561000	0.53770	1.427000	0.47276	0.459000	0.35465	AGC		0.652	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336418.1	NM_058238		48	99	0	0	0	0.01441	0	48	99				
TBC1D22A	25771	broad.mit.edu	37	22	47274578	47274578	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:47274578A>G	ENST00000337137.4	+	5	833	c.667A>G	c.(667-669)Atc>Gtc	p.I223V	TBC1D22A_ENST00000355704.3_Missense_Mutation_p.I145V|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.I176V|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.I176V|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.I164V	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	223	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		CTGGTCCGGAATCCCTAAGCC	0.522																																							uc003bib.2		NA																	0				ovary(1)	1						c.(667-669)ATC>GTC		TBC1 domain family, member 22A							128.0	123.0	124.0					22																	47274578		2203	4300	6503	SO:0001583	missense	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47274578A>G	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.667A>G	22.37:g.47274578A>G	ENSP00000336724:p.Ile223Val					TBC1D22A_uc010haf.2_Missense_Mutation_p.I193V|TBC1D22A_uc003bic.2_Missense_Mutation_p.I164V|TBC1D22A_uc003bie.2_Missense_Mutation_p.I145V|TBC1D22A_uc003bid.2_Intron|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.I176V	p.I223V	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	5	802	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	223			Rab-GAP TBC.		B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	37	c.667A>G	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	A	3.875	-0.027043	0.07589	.	.	ENSG00000054611	ENST00000337137;ENST00000380995;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T;T	0.05199	3.48;3.48;3.48;3.48;3.48	5.17	5.17	0.71159	Rab-GAP/TBC domain (3);	0.156961	0.56097	D	0.000028	T	0.04003	0.0112	N	0.16368	0.405	0.37837	D	0.928919	B;B;B;B	0.23650	0.001;0.03;0.089;0.001	B;B;B;B	0.21708	0.016;0.036;0.03;0.016	T	0.32188	-0.9916	10	0.07482	T	0.82	-2.5953	11.4487	0.50138	1.0:0.0:0.0:0.0	.	223;145;164;223	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	V	223;176;164;145;176	ENSP00000336724:I223V;ENSP00000370383:I176V;ENSP00000384036:I164V;ENSP00000347932:I145V;ENSP00000385634:I176V	ENSP00000336724:I223V	I	+	1	0	TBC1D22A	45653242	1.000000	0.71417	0.980000	0.43619	0.714000	0.41099	4.205000	0.58466	1.963000	0.57068	0.477000	0.44152	ATC		0.522	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		4	191	0	0	0	0.014758	0	4	191				
NCAPH2	29781	broad.mit.edu	37	22	50960175	50960175	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:50960175C>A	ENST00000420993.2	+	12	1128	c.1006C>A	c.(1006-1008)Cct>Act	p.P336T	NCAPH2_ENST00000299821.11_Missense_Mutation_p.P336T|CTA-384D8.36_ENST00000608319.1_RNA|NCAPH2_ENST00000520297.1_3'UTR|NCAPH2_ENST00000395701.3_Missense_Mutation_p.P336T	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	336					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CCCAGGTAGGCCTTACTCTGT	0.642																																							uc003blr.3		NA																	0				ovary(1)|skin(1)	2						c.(1006-1008)CCT>ACT		kleisin beta isoform 2							61.0	59.0	60.0					22																	50960175		2203	4300	6503	SO:0001583	missense	29781				chromosome condensation	chromosome|nucleus		g.chr22:50960175C>A	BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"""kleisin beta"", ""CAP-H2 subunit of the condensin II complex"""	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.1006C>A	22.37:g.50960175C>A	ENSP00000410088:p.Pro336Thr					NCAPH2_uc003blv.2_Missense_Mutation_p.P336T|NCAPH2_uc010hbb.2_Missense_Mutation_p.P187T|NCAPH2_uc003blu.3_RNA|NCAPH2_uc003bls.3_RNA|NCAPH2_uc003blt.3_RNA|NCAPH2_uc003blw.3_RNA|NCAPH2_uc003blx.3_Missense_Mutation_p.P336T|NCAPH2_uc003bly.3_RNA	p.P336T	NM_152299	NP_689512	Q6IBW4	CNDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.212)	12	1128	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	336					B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Missense_Mutation	SNP	ENST00000420993.2	37	c.1006C>A	CCDS14094.2	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911542	0.52439	.	.	ENSG00000025770	ENST00000420993;ENST00000395701;ENST00000299821	.	.	.	4.7	4.7	0.59300	.	0.204671	0.42548	D	0.000699	T	0.65533	0.2700	L	0.50333	1.59	0.33149	D	0.545488	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.982;0.999;0.999;0.999	T	0.68845	-0.5301	9	0.21540	T	0.41	-21.6506	16.1893	0.81975	0.0:1.0:0.0:0.0	.	336;336;314;336	G3XAG4;Q6IBW4-4;Q6IBW4-2;Q6IBW4	.;.;.;CNDH2_HUMAN	T	336	.	ENSP00000299821:P336T	P	+	1	0	NCAPH2	49307041	0.972000	0.33761	0.922000	0.36590	0.557000	0.35523	2.856000	0.48341	2.170000	0.68504	0.491000	0.48974	CCT		0.642	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317012.1	NM_152299		7	199	1	0	5.4927e-09	0.004482	6.25913e-09	7	199				
ODF3B	440836	broad.mit.edu	37	22	50969207	50969207	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:50969207C>A	ENST00000428989.2	-	5	614	c.615G>T	c.(613-615)ctG>ctT	p.L205L	ODF3B_ENST00000329363.4_Silent_p.L205L|TYMP_ENST00000395678.3_5'Flank|TYMP_ENST00000395681.1_5'Flank|ODF3B_ENST00000401779.1_Missense_Mutation_p.G182C|ODF3B_ENST00000405135.1_Missense_Mutation_p.G221C|ODF3B_ENST00000403326.1_Silent_p.L137L|TYMP_ENST00000395680.1_5'Flank|TYMP_ENST00000252029.3_5'Flank			A8MYP8	ODF3B_HUMAN	outer dense fiber of sperm tails 3B	205								p.L205L(1)		lung(2)	2						AAGTCCGCGCCAGAATCGTGA	0.667																																							uc003bmh.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(613-615)CTG>CTT		outer dense fiber of sperm tails 3B							14.0	16.0	16.0					22																	50969207		1870	4093	5963	SO:0001819	synonymous_variant	440836							g.chr22:50969207C>A		CCDS43039.1	22q13.33	2008-10-24			ENSG00000177989	ENSG00000177989			34388	protein-coding gene	gene with protein product							Standard	NM_001014440		Approved		uc003bmh.2	A8MYP8	OTTHUMG00000150334	ENST00000428989.2:c.615G>T	22.37:g.50969207C>A						TYMP_uc003bmb.3_5'Flank|TYMP_uc003bmc.3_5'Flank|TYMP_uc003bmd.3_5'Flank|TYMP_uc010hbd.2_5'Flank|TYMP_uc003bme.3_5'Flank|TYMP_uc003bmf.3_5'Flank|TYMP_uc011arz.1_5'Flank|ODF3B_uc003bmg.2_Missense_Mutation_p.G182C	p.L205L	NM_001014440	NP_001014440	A8MYP8	ODF3B_HUMAN			6	752	-			205			DUF1309.		A0PK18	Silent	SNP	ENST00000428989.2	37	c.615G>T	CCDS43039.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694691	0.48202	.	.	ENSG00000177989	ENST00000401779;ENST00000405135	T	0.50277	0.75	5.14	2.99	0.34606	.	.	.	.	.	T	0.61937	0.2387	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.66351	0.943	T	0.62129	-0.6919	8	0.87932	D	0	-4.4864	7.2873	0.26346	0.0:0.8019:0.0:0.1981	.	182	B5MD02	.	C	182;221	ENSP00000384012:G221C	ENSP00000384310:G182C	G	-	1	0	ODF3B	49316073	0.746000	0.28272	0.977000	0.42913	0.226000	0.24999	0.619000	0.24388	0.693000	0.31634	-0.367000	0.07326	GGC		0.667	ODF3B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317626.2			7	26	1	0	1.76689e-08	0.006214	1.98744e-08	7	26				
GRM7	2917	broad.mit.edu	37	3	7620536	7620536	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:7620536C>T	ENST00000357716.4	+	8	2217	c.1943C>T	c.(1942-1944)gCc>gTc	p.A648V	GRM7_ENST00000389336.4_Missense_Mutation_p.A648V|GRM7_ENST00000486284.1_Missense_Mutation_p.A648V|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Missense_Mutation_p.A648V|GRM7_ENST00000403881.1_Missense_Mutation_p.A648V	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	648					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)	p.A648V(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						CTGATGATTGCCAAACCAGAT	0.473																																							uc003bqm.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(3)	7						c.(1942-1944)GCC>GTC		glutamate receptor, metabotropic 7 isoform a	L-Glutamic Acid(DB00142)						136.0	129.0	132.0					3																	7620536		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7620536C>T	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1943C>T	3.37:g.7620536C>T	ENSP00000350348:p.Ala648Val					GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.A648V|GRM7_uc003bql.2_Missense_Mutation_p.A648V|GRM7_uc003bqn.1_Missense_Mutation_p.A231V|GRM7_uc010hch.1_Missense_Mutation_p.A159V	p.A648V	NM_000844	NP_000835	Q14831	GRM7_HUMAN			8	2217	+			648			Helical; Name=2; (Potential).		Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.1943C>T	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274107	0.59649	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25	5.93	5.93	0.95920	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93307	0.7867	M	0.72479	2.2	0.80722	D	1	B;D;D;D;P	0.76494	0.107;0.996;0.999;0.997;0.511	B;D;D;D;B	0.83275	0.088;0.98;0.996;0.989;0.373	D	0.93312	0.6685	10	0.87932	D	0	.	18.9177	0.92512	0.0:1.0:0.0:0.0	.	648;648;403;648;648	B7ZKK0;Q14831-5;Q59G95;Q14831;Q14831-2	.;.;.;GRM7_HUMAN;.	V	648	ENSP00000350348:A648V;ENSP00000417536:A648V;ENSP00000373987:A648V;ENSP00000385664:A648V;ENSP00000384585:A648V	ENSP00000350348:A648V	A	+	2	0	GRM7	7595536	1.000000	0.71417	0.997000	0.53966	0.529000	0.34654	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	GCC		0.473	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		49	218	0	0	0	0.01441	0	49	218				
SLC6A1	6529	broad.mit.edu	37	3	11059650	11059650	+	Silent	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:11059650T>A	ENST00000287766.4	+	4	781	c.360T>A	c.(358-360)ccT>ccA	p.P120P	SLC6A1_ENST00000536032.1_Intron|SLC6A1-AS1_ENST00000414969.2_RNA	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	120					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.P120P(2)		breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	AGCTGGCTCCTATGTTCAAGG	0.612																																							uc010hdq.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(358-360)CCT>CCA		solute carrier family 6 (neurotransmitter	Cocaine(DB00907)|Tiagabine(DB00906)						115.0	126.0	122.0					3																	11059650		2203	4300	6503	SO:0001819	synonymous_variant	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11059650T>A		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.360T>A	3.37:g.11059650T>A							p.P120P	NM_003042	NP_003033	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	4	771	+		Ovarian(110;0.0392)	120					Q8N4K8	Silent	SNP	ENST00000287766.4	37	c.360T>A	CCDS2603.1																																																																																				0.612	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		46	226	0	0	0	0.01441	0	46	226				
ATG7	10533	broad.mit.edu	37	3	11382132	11382132	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:11382132A>G	ENST00000354449.3	+	10	928	c.903A>G	c.(901-903)gcA>gcG	p.A301A	ATG7_ENST00000446450.2_Silent_p.A262A|ATG7_ENST00000354956.5_Silent_p.A301A	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	301					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)	p.A301A(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						GTCCTAAAGCAGTTGGATGGG	0.393																																							uc003bwc.2		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(901-903)GCA>GCG		APG7 autophagy 7-like isoform a							118.0	107.0	111.0					3																	11382132		2203	4300	6503	SO:0001819	synonymous_variant	10533				autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	g.chr3:11382132A>G	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.903A>G	3.37:g.11382132A>G						ATG7_uc003bwd.2_Silent_p.A301A|ATG7_uc011aum.1_Silent_p.A262A	p.A301A	NM_006395	NP_006386	O95352	ATG7_HUMAN			10	1020	+			301					B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Silent	SNP	ENST00000354449.3	37	c.903A>G	CCDS2605.1																																																																																				0.393	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395		14	64	0	0	0	0.020292	0	14	64				
CAPN7	23473	broad.mit.edu	37	3	15288300	15288300	+	Splice_Site	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:15288300G>C	ENST00000253693.2	+	18	2325	c.2072G>C	c.(2071-2073)cGg>cCg	p.R691P		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	691	Domain III.				positive regulation of epithelial cell migration (GO:0010634)|self proteolysis (GO:0097264)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|endopeptidase activity (GO:0004175)|MIT domain binding (GO:0090541)	p.R691P(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						TTATCAAAACGGGTGAGAAAA	0.294																																							uc003bzn.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2071-2073)CGG>CCG		calpain 7							65.0	65.0	65.0					3																	15288300		2202	4299	6501	SO:0001630	splice_region_variant	23473				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity	g.chr3:15288300G>C	AB028639	CCDS2624.1	3p24	2008-07-18			ENSG00000131375	ENSG00000131375			1484	protein-coding gene	gene with protein product	"""calpain like protease"", ""homolog of Aspergillus Nidulans PALB"""	606400				8163008, 10051333	Standard	NM_014296		Approved	PalBH	uc003bzn.3	Q9Y6W3	OTTHUMG00000129863	ENST00000253693.2:c.2073+1G>C	3.37:g.15288300G>C							p.R691P	NM_014296	NP_055111	Q9Y6W3	CAN7_HUMAN			18	2342	+			691			Domain III.			Missense_Mutation	SNP	ENST00000253693.2	37	c.2072G>C	CCDS2624.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217628	0.79352	.	.	ENSG00000131375	ENST00000253693	D	0.87103	-2.21	5.48	4.54	0.55810	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.191810	0.44097	D	0.000481	D	0.91915	0.7440	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.90301	0.4330	10	0.38643	T	0.18	-8.2828	7.9368	0.29935	0.1415:0.0:0.8585:0.0	.	691	Q9Y6W3	CAN7_HUMAN	P	691	ENSP00000253693:R691P	ENSP00000253693:R691P	R	+	2	0	CAPN7	15263304	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.397000	0.73239	1.153000	0.42468	0.655000	0.94253	CGG		0.294	CAPN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252105.2	NM_014296	Missense_Mutation	15	34	0	0	0	0.004007	0	15	34				
GALNT15	117248	broad.mit.edu	37	3	16254145	16254145	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:16254145G>T	ENST00000339732.5	+	6	1770	c.1267G>T	c.(1267-1269)Gat>Tat	p.D423Y	GALNT15_ENST00000437509.1_Missense_Mutation_p.D423Y	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	423					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.D423Y(2)									CCAAAATCAGGATTCCCATTC	0.537																																							uc003car.3		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(1267-1269)GAT>TAT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							109.0	95.0	100.0					3																	16254145		2203	4300	6503	SO:0001583	missense	117248					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr3:16254145G>T	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.1267G>T	3.37:g.16254145G>T	ENSP00000344260:p.Asp423Tyr					GALNTL2_uc003caq.3_Missense_Mutation_p.D156Y	p.D423Y	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN			6	1742	+			423			Lumenal (Potential).		A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Missense_Mutation	SNP	ENST00000339732.5	37	c.1267G>T	CCDS33711.1	.	.	.	.	.	.	.	.	.	.	G	3.652	-0.071351	0.07228	.	.	ENSG00000131386	ENST00000339732;ENST00000437509	T;T	0.58652	0.32;0.32	5.38	3.49	0.39957	.	1.355900	0.04475	N	0.376799	T	0.46521	0.1397	L	0.45051	1.395	0.09310	N	1	B	0.28258	0.205	B	0.21360	0.034	T	0.45293	-0.9271	10	0.51188	T	0.08	.	1.8584	0.03184	0.1551:0.1431:0.4137:0.2881	.	423	Q8N3T1	GLTL2_HUMAN	Y	423	ENSP00000344260:D423Y;ENSP00000395873:D423Y	ENSP00000344260:D423Y	D	+	1	0	GALNTL2	16229149	0.046000	0.20272	0.048000	0.18961	0.018000	0.09664	0.899000	0.28417	2.524000	0.85096	0.561000	0.74099	GAT		0.537	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		53	111	1	0	3.19069e-20	0.01441	4.11431e-20	53	111				
SLC4A7	9497	broad.mit.edu	37	3	27490147	27490147	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:27490147G>C	ENST00000295736.5	-	3	327	c.257C>G	c.(256-258)tCt>tGt	p.S86C	SLC4A7_ENST00000446700.1_Missense_Mutation_p.S91C|SLC4A7_ENST00000428386.1_Missense_Mutation_p.S86C|SLC4A7_ENST00000440156.1_Missense_Mutation_p.S95C|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000445684.1_Missense_Mutation_p.S95C|SLC4A7_ENST00000454389.1_Missense_Mutation_p.S95C|SLC4A7_ENST00000437179.1_Missense_Mutation_p.S91C|SLC4A7_ENST00000425128.2_Missense_Mutation_p.S91C|SLC4A7_ENST00000435667.2_Missense_Mutation_p.S95C|SLC4A7_ENST00000455077.1_Missense_Mutation_p.S91C	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	86					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.S86C(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	CTTACCATAAGAAGGAGATTC	0.353																																							uc003cdv.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(256-258)TCT>TGT		solute carrier family 4, sodium bicarbonate							221.0	202.0	208.0					3																	27490147		2203	4300	6503	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27490147G>C	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.257C>G	3.37:g.27490147G>C	ENSP00000295736:p.Ser86Cys					SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.S91C|SLC4A7_uc011aww.1_Missense_Mutation_p.S95C|SLC4A7_uc011awx.1_Missense_Mutation_p.S95C|SLC4A7_uc011awy.1_Missense_Mutation_p.S91C|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.S91C|SLC4A7_uc011axb.1_Missense_Mutation_p.S95C|SLC4A7_uc010hfm.2_Missense_Mutation_p.S91C|SLC4A7_uc003cdw.2_Missense_Mutation_p.S86C	p.S86C	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN			3	328	-			86			Extracellular (Potential).		A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.257C>G	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.691655	0.68271	.	.	ENSG00000033867	ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000425128;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T	0.79749	-1.22;-1.23;-1.22;-1.3;-1.23;-1.3;-1.23;-1.3;-1.24;0.19;-1.24	5.56	5.56	0.83823	.	0.365607	0.28927	N	0.013698	D	0.83492	0.5266	L	0.57536	1.79	0.46298	D	0.998974	D;B;D;D;P;P;B;P;B	0.63046	0.992;0.003;0.992;0.986;0.953;0.881;0.005;0.89;0.003	P;B;P;P;B;P;B;B;B	0.52856	0.711;0.014;0.711;0.711;0.41;0.682;0.031;0.41;0.014	D	0.84795	0.0781	10	0.62326	D	0.03	.	14.0197	0.64545	0.0:0.0:0.8487:0.1513	.	95;91;91;95;95;91;86;86;91	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;B6DY53;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	C	86;86;95;95;91;91;91;95;95;91;86	ENSP00000295736:S86C;ENSP00000416368:S86C;ENSP00000390394:S95C;ENSP00000414797:S95C;ENSP00000394252:S91C;ENSP00000406605:S91C;ENSP00000407382:S91C;ENSP00000406804:S95C;ENSP00000395336:S95C;ENSP00000401949:S91C;ENSP00000388703:S86C	ENSP00000295736:S86C	S	-	2	0	SLC4A7	27465151	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.828000	0.69307	2.606000	0.88127	0.650000	0.86243	TCT		0.353	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		17	116	0	0	0	0.00499	0	17	116				
TTC21A	199223	broad.mit.edu	37	3	39178787	39178787	+	Missense_Mutation	SNP	G	G	T	rs188468178	byFrequency	TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:39178787G>T	ENST00000431162.2	+	25	3514	c.3380G>T	c.(3379-3381)cGg>cTg	p.R1127L	TTC21A_ENST00000440121.1_Missense_Mutation_p.R1079L|TTC21A_ENST00000301819.6_Missense_Mutation_p.R1128L|TTC21A_ENST00000493856.1_3'UTR			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1127								p.R1128L(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ACCCAGCTGCGGCTGCTGCAG	0.612																																							uc003cjc.2		NA																	3	Substitution - Missense(3)		lung(2)|endometrium(1)	ovary(1)	1						c.(3379-3381)CGG>CTG		tetratricopeptide repeat domain 21A isoform 2							20.0	25.0	23.0					3																	39178787		2010	4163	6173	SO:0001583	missense	199223						binding	g.chr3:39178787G>T	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.3380G>T	3.37:g.39178787G>T	ENSP00000398211:p.Arg1127Leu					TTC21A_uc003cje.2_Missense_Mutation_p.R1128L|TTC21A_uc003cjd.2_Intron|TTC21A_uc011ayx.1_Missense_Mutation_p.R1079L|TTC21A_uc003cjf.2_Missense_Mutation_p.R248L	p.R1127L	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	25	3557	+			1127					A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	c.3380G>T	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.919637	0.33908	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.64618	-0.11;-0.1;0.01	4.27	0.731	0.18277	.	0.515223	0.16734	N	0.201713	T	0.49660	0.1570	M	0.72118	2.19	0.33064	D	0.534432	B;B;B	0.29552	0.248;0.206;0.13	B;B;B	0.28553	0.079;0.091;0.042	T	0.45789	-0.9237	10	0.23891	T	0.37	-11.9434	0.2358	0.00186	0.3174:0.2017:0.2765:0.2045	.	1079;1128;1127	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	L	1128;1110;1127;1079	ENSP00000301819:R1128L;ENSP00000398211:R1127L;ENSP00000410882:R1079L	ENSP00000301819:R1128L	R	+	2	0	TTC21A	39153791	0.157000	0.22836	0.996000	0.52242	0.432000	0.31715	0.212000	0.17497	0.244000	0.21351	0.205000	0.17691	CGG		0.612	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		22	22	1	0	6.38683e-12	0.008361	7.56386e-12	22	22				
CCRL2	9034	broad.mit.edu	37	3	46450373	46450373	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:46450373C>G	ENST00000399036.3	+	2	1155	c.803C>G	c.(802-804)tCc>tGc	p.S268C	CCRL2_ENST00000400882.2_Missense_Mutation_p.S268C|CCRL2_ENST00000357392.4_Missense_Mutation_p.S280C|CCRL2_ENST00000400880.3_Missense_Mutation_p.S268C|RP11-24F11.2_ENST00000451485.1_RNA	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2	268					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CCR chemokine receptor binding (GO:0048020)|chemokine receptor activity (GO:0004950)|chemokine receptor binding (GO:0042379)			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		GAACACTTCTCCCTGAGTGAC	0.463																																							uc003cpp.3		NA																	0				ovary(1)	1						c.(802-804)TCC>TGC		chemokine (C-C motif) receptor-like 2 isoform 1							245.0	254.0	251.0					3																	46450373		2105	4230	6335	SO:0001583	missense	9034				chemotaxis|inflammatory response	integral to plasma membrane	CCR chemokine receptor binding|chemokine receptor activity	g.chr3:46450373C>G	AF014958	CCDS43079.1, CCDS46814.1	3p21	2013-07-18	2013-07-18	2013-07-18	ENSG00000121797	ENSG00000121797		"""GPCR / Class A : Chemokine receptors : Atypical"""	1612	protein-coding gene	gene with protein product	"""atypical chemokine receptor 5"""	608379				9473515	Standard	NM_001130910		Approved	HCR, CRAM-B, CKRX, CRAM-A, ACKR5	uc003cpp.4	O00421	OTTHUMG00000156318	ENST00000399036.3:c.803C>G	3.37:g.46450373C>G	ENSP00000381994:p.Ser268Cys					CCRL2_uc010hjg.2_Missense_Mutation_p.S280C|CCRL2_uc010hjf.2_Missense_Mutation_p.S268C	p.S268C	NM_003965	NP_003956	O00421	CCRL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	2	1088	+			268			Extracellular (Potential).		B4DKQ8|O75307|Q4VBB0|Q6IPX0|Q7KYQ9|Q96KP5|Q9UPG0	Missense_Mutation	SNP	ENST00000399036.3	37	c.803C>G	CCDS43079.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.593283	0.28357	.	.	ENSG00000121797	ENST00000399036;ENST00000357392;ENST00000400880;ENST00000400882	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.24	3.22	0.36961	GPCR, rhodopsin-like superfamily (1);	6.175840	0.00397	N	0.000051	T	0.57257	0.2041	L	0.57536	1.79	0.09310	N	1	B;B	0.29508	0.246;0.125	B;B	0.28011	0.051;0.085	T	0.42189	-0.9466	10	0.36615	T	0.2	.	9.1533	0.36976	0.1533:0.579:0.2677:0.0	.	280;268	O00421-2;O00421	.;CCRL2_HUMAN	C	268;280;268;268	ENSP00000381994:S268C;ENSP00000349967:S280C;ENSP00000383677:S268C;ENSP00000383678:S268C	ENSP00000349967:S280C	S	+	2	0	CCRL2	46425377	0.000000	0.05858	0.982000	0.44146	0.357000	0.29423	-0.485000	0.06520	1.187000	0.43000	0.484000	0.47621	TCC		0.463	CCRL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343909.2			11	584	0	0	0	0.008291	0	11	584				
CDC25A	993	broad.mit.edu	37	3	48207217	48207217	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:48207217G>C	ENST00000302506.3	-	12	1508	c.1100C>G	c.(1099-1101)tCt>tGt	p.S367C	CDC25A_ENST00000351231.3_Missense_Mutation_p.S327C|CDC25A_ENST00000459900.1_5'UTR	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	367					cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.S367C(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ATTCAAAACAGATGCCATCTG	0.423																																							uc003csh.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|kidney(1)|skin(1)	5						c.(1099-1101)TCT>TGT		cell division cycle 25A isoform a							143.0	141.0	142.0					3																	48207217		2203	4300	6503	SO:0001583	missense	993				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr3:48207217G>C	M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1725	protein-coding gene	gene with protein product		116947	"""cell division cycle 25A"", ""cell division cycle 25 homolog A (S. cerevisiae)"", ""cell division cycle 25 homolog A (S. pombe)"""			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.1100C>G	3.37:g.48207217G>C	ENSP00000303706:p.Ser367Cys					CDC25A_uc003csi.1_Missense_Mutation_p.S327C	p.S367C	NM_001789	NP_001780	P30304	MPIP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	12	1464	-			367					Q8IZH5|Q96IL3|Q9H2F2	Missense_Mutation	SNP	ENST00000302506.3	37	c.1100C>G	CCDS2760.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559824	0.65538	.	.	ENSG00000164045	ENST00000302506;ENST00000351231	T;T	0.31769	1.48;1.48	5.14	5.14	0.70334	Rhodanese-like (3);	0.258920	0.45606	D	0.000350	T	0.39384	0.1076	N	0.21448	0.665	0.37826	D	0.928551	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.967	T	0.37842	-0.9688	10	0.54805	T	0.06	.	12.2284	0.54474	0.0:0.1718:0.8282:0.0	.	327;367	P30304-2;P30304	.;MPIP1_HUMAN	C	367;327	ENSP00000303706:S367C;ENSP00000343166:S327C	ENSP00000303706:S367C	S	-	2	0	CDC25A	48182221	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.242000	0.58714	2.550000	0.86006	0.561000	0.74099	TCT		0.423	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257512.2	NM_001789		31	119	0	0	0	0.007291	0	31	119				
DNAH1	25981	broad.mit.edu	37	3	52416404	52416404	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:52416404T>A	ENST00000420323.2	+	50	8135	c.7874T>A	c.(7873-7875)gTg>gAg	p.V2625E		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2625	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGAGATGATGTGAAGAAGGTC	0.572																																							uc011bef.1		NA																	0				large_intestine(3)	3						c.(7873-7875)GTG>GAG		dynein, axonemal, heavy chain 1							166.0	175.0	172.0					3																	52416404		2143	4249	6392	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52416404T>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.7874T>A	3.37:g.52416404T>A	ENSP00000401514:p.Val2625Glu					DNAH1_uc003ddv.2_5'Flank	p.V2625E	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	50	8135	+			2625			AAA 4 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.7874T>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	T	18.40	3.615914	0.66672	.	.	ENSG00000114841	ENST00000420323	T	0.45668	0.89	4.49	4.49	0.54785	.	0.144528	0.31358	N	0.007786	T	0.54647	0.1871	L	0.47016	1.485	0.47949	D	0.999556	P	0.44877	0.845	P	0.59424	0.857	T	0.58306	-0.7659	10	0.87932	D	0	.	13.9669	0.64213	0.0:0.0:0.0:1.0	.	2625	C9JXH6	.	E	2625	ENSP00000401514:V2625E	ENSP00000401514:V2625E	V	+	2	0	DNAH1	52391444	0.997000	0.39634	0.998000	0.56505	0.222000	0.24845	6.134000	0.71689	1.883000	0.54544	0.379000	0.24179	GTG		0.572	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		4	170	0	0	0	0.009096	0	4	170				
ROBO2	6092	broad.mit.edu	37	3	77600017	77600017	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:77600017G>T	ENST00000461745.1	+	8	2008	c.1108G>T	c.(1108-1110)Gtg>Ttg	p.V370L	ROBO2_ENST00000487694.3_Missense_Mutation_p.V386L|ROBO2_ENST00000332191.8_Missense_Mutation_p.V370L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	370	Ig-like C2-type 4.				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.V386L(2)|p.V370L(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)		TAGATGCTCAGTGTCACCAAC	0.443																																							uc003dpy.3		NA																	4	Substitution - Missense(4)		lung(4)	lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11						c.(1108-1110)GTG>TTG		roundabout, axon guidance receptor, homolog 2							92.0	92.0	92.0					3																	77600017		1951	4145	6096	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.chr3:77600017G>T	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.1108G>T	3.37:g.77600017G>T	ENSP00000417164:p.Val370Leu					ROBO2_uc003dpz.2_Missense_Mutation_p.V374L|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.V374L	p.V370L	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)	8	1751	+			370			Ig-like C2-type 4.|Extracellular (Potential).		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.1108G>T	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	32	5.178862	0.94846	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.69561	-0.41;-0.41;-0.41	5.35	5.35	0.76521	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.41294	D	0.000907	T	0.77994	0.4214	L	0.48642	1.525	0.45366	D	0.998351	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.75266	-0.3378	9	0.37606	T	0.19	.	19.4186	0.94712	0.0:0.0:1.0:0.0	.	386;370;370	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	L	386;386;390;370;370;91	ENSP00000417335:V386L;ENSP00000417164:V370L;ENSP00000327536:V370L	ENSP00000327536:V370L	V	+	1	0	ROBO2	77682707	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	9.813000	0.99286	2.673000	0.90976	0.491000	0.48974	GTG		0.443	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		48	62	1	0	4.85424e-44	0.01441	6.75972e-44	48	62				
HTR1F	3355	broad.mit.edu	37	3	88040798	88040798	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:88040798G>A	ENST00000319595.4	+	1	953	c.899G>A	c.(898-900)gGt>gAt	p.G300D		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	300					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.G300D(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TTAATCTTGGGTGCATTTGTA	0.368																																							uc003dqr.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(898-900)GGT>GAT		5-hydroxytryptamine (serotonin) receptor 1F	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)						75.0	84.0	81.0					3																	88040798		2203	4300	6503	SO:0001583	missense	3355				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity	g.chr3:88040798G>A	L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5292	protein-coding gene	gene with protein product		182134	"""5-hydroxytryptamine (serotonin) receptor 1F"""			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.899G>A	3.37:g.88040798G>A	ENSP00000322924:p.Gly300Asp						p.G300D	NM_000866	NP_000857	P30939	5HT1F_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	2	1057	+	all_cancers(8;0.147)	Lung NSC(201;0.0283)	300			Helical; Name=6; (By similarity).			Missense_Mutation	SNP	ENST00000319595.4	37	c.899G>A	CCDS2920.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056040	0.76074	.	.	ENSG00000179097	ENST00000319595	T	0.38560	1.13	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.78685	0.4322	H	0.98333	4.205	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.87226	0.2257	10	0.87932	D	0	.	16.486	0.84183	0.0:0.0:1.0:0.0	.	300	P30939	5HT1F_HUMAN	D	300	ENSP00000322924:G300D	ENSP00000322924:G300D	G	+	2	0	HTR1F	88123488	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.823000	0.99369	2.489000	0.83994	0.557000	0.71058	GGT		0.368	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	NM_000866		6	36	0	0	0	0.001984	0	6	36				
OR5K4	403278	broad.mit.edu	37	3	98073318	98073318	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:98073318A>G	ENST00000354924.2	+	1	621	c.621A>G	c.(619-621)caA>caG	p.Q207Q	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TACCAATTCAAATCTTTACCA	0.338																																							uc011bgv.1		NA																	0				central_nervous_system(1)	1						c.(619-621)CAA>CAG		olfactory receptor, family 5, subfamily K,							82.0	83.0	83.0					3																	98073318		2203	4300	6503	SO:0001819	synonymous_variant	403278				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98073318A>G		CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"""GPCR / Class A : Olfactory receptors"""	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.621A>G	3.37:g.98073318A>G							p.Q207Q	NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN			1	621	+			207			Helical; Name=5; (Potential).			Silent	SNP	ENST00000354924.2	37	c.621A>G	CCDS33802.1																																																																																				0.338	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1			4	75	0	0	0	0.009096	0	4	75				
CBLB	868	broad.mit.edu	37	3	105378032	105378032	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:105378032G>A	ENST00000264122.4	-	19	3052	c.2731C>T	c.(2731-2733)Cgc>Tgc	p.R911C	CBLB_ENST00000407712.1_Missense_Mutation_p.R126C|CBLB_ENST00000394027.3_Missense_Mutation_p.R889C	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	911	Interaction with SH3KBP1.|Pro-rich.			R -> C (in Ref. 9; CAH56175). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R911C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GCAGTCCTGCGCGGTCGTGGT	0.453			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	GBM(93;588 1337 9788 29341 43499)	uc003dwc.2		NA		Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|breast(1)|skin(1)	9						c.(2731-2733)CGC>TGC		Cas-Br-M (murine) ecotropic retroviral							84.0	89.0	88.0					3																	105378032		2203	4300	6503	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105378032G>A	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.2731C>T	3.37:g.105378032G>A	ENSP00000264122:p.Arg911Cys					CBLB_uc003dwa.2_Missense_Mutation_p.R126C|CBLB_uc011bhi.1_Missense_Mutation_p.R889C	p.R911C	NM_170662	NP_733762	Q13191	CBLB_HUMAN			19	3053	-			911	R->A: Reduced interaction with CD2AP and with SH3KBP1. Strongly reduced interaction with CD2AP; when associated with A-907. Strongly reduced interaction with SH3KBP1; when associated with A-904.|R -> C (in Ref. 7; CAH56175).		Pro-rich.|Interaction with SH3KBP1.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.2731C>T	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211982	0.79240	.	.	ENSG00000114423	ENST00000394030;ENST00000264122;ENST00000407712;ENST00000394027	D;D;D;D	0.89681	-1.98;-2.49;-1.82;-2.55	5.65	5.65	0.86999	.	0.110120	0.64402	D	0.000008	D	0.91686	0.7372	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.99;0.993;0.993	D	0.92588	0.6080	10	0.87932	D	0	-14.2333	19.7289	0.96175	0.0:0.0:1.0:0.0	.	889;911;889	E7ENW2;Q13191;B4DYP3	.;CBLB_HUMAN;.	C	250;911;126;889	ENSP00000377598:R250C;ENSP00000264122:R911C;ENSP00000384170:R126C;ENSP00000377595:R889C	ENSP00000264122:R911C	R	-	1	0	CBLB	106860722	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.179000	0.71974	2.649000	0.89929	0.655000	0.94253	CGC		0.453	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		8	106	0	0	0	0.004482	0	8	106				
MYH15	22989	broad.mit.edu	37	3	108219032	108219032	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:108219032C>G	ENST00000273353.3	-	5	545	c.489G>C	c.(487-489)aaG>aaC	p.K163N		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	163	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K163N(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTGATCGCCTCTTCCCTTTGT	0.463																																							uc003dxa.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(2)	7						c.(487-489)AAG>AAC		myosin, heavy polypeptide 15							100.0	99.0	100.0					3																	108219032		1891	4110	6001	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108219032C>G	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.489G>C	3.37:g.108219032C>G	ENSP00000273353:p.Lys163Asn						p.K163N	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			5	546	-			163			Myosin head-like.			Missense_Mutation	SNP	ENST00000273353.3	37	c.489G>C	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822139	0.71028	.	.	ENSG00000144821	ENST00000273353	D	0.88975	-2.45	6.17	5.3	0.74995	Myosin head, motor domain (2);	.	.	.	.	D	0.94912	0.8355	M	0.90595	3.13	0.43819	D	0.99638	D	0.60575	0.988	D	0.71184	0.972	D	0.95508	0.8583	9	0.87932	D	0	.	12.4185	0.55508	0.0:0.864:0.0:0.136	.	163	Q9Y2K3	MYH15_HUMAN	N	163	ENSP00000273353:K163N	ENSP00000273353:K163N	K	-	3	2	MYH15	109701722	1.000000	0.71417	0.366000	0.25914	0.979000	0.70002	2.154000	0.42291	1.626000	0.50381	0.655000	0.94253	AAG		0.463	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		41	31	0	0	0	0.009718	0	41	31				
ZNF80	7634	broad.mit.edu	37	3	113955524	113955524	+	Missense_Mutation	SNP	T	T	C	rs143330045		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:113955524T>C	ENST00000482457.2	-	1	901	c.398A>G	c.(397-399)tAt>tGt	p.Y133C	RP11-553L6.2_ENST00000493033.1_RNA|RP11-553L6.2_ENST00000481773.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	133					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.Y133C(2)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				GCTGCACTCATAGGGCTTCTC	0.537																																					GBM(23;986 1114 21716)	GBM(23;986 1114 21716)	uc010hqo.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(397-399)TAT>TGT		zinc finger protein 80		T	CYS/TYR	0,4406		0,0,2203	69.0	68.0	68.0		398	-1.0	0.0	3	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF80	NM_007136.3	194	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	133/274	113955524	1,13005	2203	4300	6503	SO:0001583	missense	7634					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:113955524T>C	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.398A>G	3.37:g.113955524T>C	ENSP00000417192:p.Tyr133Cys					ZNF80_uc003ebf.2_RNA	p.Y133C	NM_007136	NP_009067	P51504	ZNF80_HUMAN			1	902	-		Lung NSC(201;0.0233)|all_neural(597;0.0837)	133			C2H2-type 4.		Q6NSW4|Q6NT14	Missense_Mutation	SNP	ENST00000482457.2	37	c.398A>G	CCDS2979.1	.	.	.	.	.	.	.	.	.	.	T	13.41	2.227406	0.39399	0.0	1.16E-4	ENSG00000174255	ENST00000482457	T	0.25414	1.8	2.89	-1.02	0.10135	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42404	0.1201	M	0.83312	2.635	0.09310	N	1	D	0.63046	0.992	P	0.60682	0.878	T	0.27400	-1.0075	9	0.87932	D	0	.	3.5483	0.07836	0.0:0.2748:0.2021:0.5231	.	133	P51504	ZNF80_HUMAN	C	133	ENSP00000417192:Y133C	ENSP00000309812:Y133C	Y	-	2	0	ZNF80	115438214	0.000000	0.05858	0.001000	0.08648	0.101000	0.19017	-0.339000	0.07832	-0.205000	0.10219	0.533000	0.62120	TAT		0.537	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		8	83	0	0	0	0.00308	0	8	83				
ZBTB20	26137	broad.mit.edu	37	3	114057870	114057870	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:114057870C>A	ENST00000474710.1	-	5	2386	c.2208G>T	c.(2206-2208)atG>atT	p.M736I	ZBTB20_ENST00000464560.1_Missense_Mutation_p.M663I|ZBTB20_ENST00000393785.2_Missense_Mutation_p.M663I|ZBTB20_ENST00000357258.3_Missense_Mutation_p.M663I|ZBTB20_ENST00000471418.1_Missense_Mutation_p.M663I|ZBTB20_ENST00000481632.1_Missense_Mutation_p.M663I|ZBTB20_ENST00000462705.1_Missense_Mutation_p.M663I	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	736						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.M663I(2)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CAGACACATGCATCCTCATGT	0.453																																					NSCLC(69;748 1344 9802 11203 30933)	NSCLC(69;748 1344 9802 11203 30933)	uc003ebi.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(2206-2208)ATG>ATT		zinc finger and BTB domain containing 20 isoform							80.0	79.0	80.0					3																	114057870		2203	4299	6502	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114057870C>A	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.2208G>T	3.37:g.114057870C>A	ENSP00000419153:p.Met736Ile					ZBTB20_uc003ebj.2_Missense_Mutation_p.M663I|ZBTB20_uc010hqp.2_Missense_Mutation_p.M663I|ZBTB20_uc003ebk.2_Missense_Mutation_p.M663I|ZBTB20_uc003ebl.2_Missense_Mutation_p.M663I|ZBTB20_uc003ebm.2_Missense_Mutation_p.M663I|ZBTB20_uc003ebn.2_Missense_Mutation_p.M663I	p.M736I	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	5	2388	-			736			C2H2-type 5.		Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.2208G>T	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.110218	0.37242	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.09255	3.02;3.02;3.02;3.02;3.0;3.02;3.02	5.87	5.87	0.94306	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.040488	0.85682	D	0.000000	T	0.06142	0.0159	N	0.02916	-0.46	0.80722	D	1	P	0.38280	0.625	B	0.40565	0.333	T	0.23762	-1.0179	10	0.02654	T	1	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	736	Q9HC78	ZBT20_HUMAN	I	663;663;663;663;736;663;663	ENSP00000420324:M663I;ENSP00000377375:M663I;ENSP00000418092:M663I;ENSP00000419902:M663I;ENSP00000419153:M736I;ENSP00000349803:M663I;ENSP00000417307:M663I	ENSP00000349803:M663I	M	-	3	0	ZBTB20	115540560	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.568000	0.82369	2.941000	0.99782	0.655000	0.94253	ATG		0.453	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		40	73	1	0	3.68427e-32	0.010771	4.99735e-32	40	73				
TMEM39A	55254	broad.mit.edu	37	3	119155826	119155826	+	Splice_Site	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:119155826C>G	ENST00000319172.5	-	7	1345		c.e7-1		TMEM39A_ENST00000486159.1_5'Flank	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A							integral component of membrane (GO:0016021)		p.?(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		ACTGGGTACTCTGGAAGAGAT	0.473																																							uc003eck.1		NA																	2	Unknown(2)		lung(2)	ovary(1)|breast(1)	2						c.e7-1		transmembrane protein 39A							142.0	132.0	136.0					3																	119155826		2203	4300	6503	SO:0001630	splice_region_variant	55254					integral to membrane		g.chr3:119155826C>G	BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.925-1G>C	3.37:g.119155826C>G						TMEM39A_uc003ecl.1_Splice_Site_p.S157_splice	p.S309_splice	NM_018266	NP_060736	Q9NV64	TM39A_HUMAN		GBM - Glioblastoma multiforme(114;0.244)	7	1288	-								D3DN80|Q53FN4|Q53GI1|Q6PKB5	Splice_Site	SNP	ENST00000319172.5	37	c.925_splice	CCDS2987.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.161606	0.57368	.	.	ENSG00000176142	ENST00000319172;ENST00000491685	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8168	0.88637	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM39A	120638516	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.312000	0.78968	2.692000	0.91855	0.650000	0.86243	.		0.473	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354941.3	NM_018266	Intron	47	169	0	0	0	0.013114	0	47	169				
ILDR1	286676	broad.mit.edu	37	3	121712504	121712504	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:121712504C>A	ENST00000344209.5	-	7	1218	c.1092G>T	c.(1090-1092)ctG>ctT	p.L364L	ILDR1_ENST00000393631.1_Silent_p.L275L|ILDR1_ENST00000462014.1_Silent_p.L332L|ILDR1_ENST00000273691.3_Silent_p.L320L|ILDR1_ENST00000460554.1_5'UTR	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	364					positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)	p.L320L(2)|p.L364L(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TCCCCTCCCTCAGATCCCAGG	0.597																																							uc003ees.2		NA																	4	Substitution - coding silent(4)		lung(4)	skin(1)	1						c.(1090-1092)CTG>CTT		immunoglobulin-like domain containing receptor							53.0	54.0	54.0					3																	121712504		2203	4300	6503	SO:0001819	synonymous_variant	286676					cytosol|integral to membrane|plasma membrane	receptor activity	g.chr3:121712504C>A	BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"""deafness, autosomal recessive 42"""	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.1092G>T	3.37:g.121712504C>A						ILDR1_uc003eeq.2_Silent_p.L332L|ILDR1_uc003eer.2_Silent_p.L320L|ILDR1_uc010hrg.2_Silent_p.L275L	p.L364L	NM_175924	NP_787120	Q86SU0	ILDR1_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	7	1198	-			364			Cytoplasmic (Potential).		Q6ZP61|Q7Z578	Silent	SNP	ENST00000344209.5	37	c.1092G>T	CCDS56271.1																																																																																				0.597	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355666.1	NM_175924		16	77	1	0	2.32078e-09	0.003163	2.66008e-09	16	77				
HEG1	57493	broad.mit.edu	37	3	124739860	124739860	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:124739860A>T	ENST00000311127.4	-	4	1095	c.1028T>A	c.(1027-1029)cTg>cAg	p.L343Q	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	343					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.L343Q(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CAAAGATCGCAGCGTTCTCGG	0.532																																							uc003ehs.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1027-1029)CTG>CAG		HEG homolog 1 precursor							82.0	85.0	84.0					3																	124739860		2046	4202	6248	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124739860A>T	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.1028T>A	3.37:g.124739860A>T	ENSP00000311502:p.Leu343Gln					HEG1_uc011bke.1_Missense_Mutation_p.L343Q	p.L343Q	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN			4	1096	-			343			Extracellular (Potential).		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.1028T>A	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.826186	0.50739	.	.	ENSG00000173706	ENST00000311127	T	0.49139	0.79	5.02	-2.12	0.07165	.	.	.	.	.	T	0.46288	0.1385	L	0.54323	1.7	0.09310	N	1	D;P	0.53745	0.962;0.838	P;P	0.53809	0.735;0.467	T	0.41052	-0.9530	9	0.24483	T	0.36	.	5.224	0.15383	0.4937:0.1542:0.3521:0.0	.	343;343	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	Q	343	ENSP00000311502:L343Q	ENSP00000311502:L343Q	L	-	2	0	HEG1	126222550	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	-0.361000	0.07612	-0.157000	0.11059	0.533000	0.62120	CTG		0.532	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		5	27	0	0	0	0.001168	0	5	27				
COL6A6	131873	broad.mit.edu	37	3	130287011	130287011	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:130287011G>C	ENST00000358511.6	+	5	1995	c.1964G>C	c.(1963-1965)gGa>gCa	p.G655A	COL6A6_ENST00000453409.2_Missense_Mutation_p.G655A	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	655	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G655A(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCTCAGATTGGACCAGATCGG	0.418																																							uc010htl.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(1963-1965)GGA>GCA		collagen type VI alpha 6 precursor							161.0	155.0	157.0					3																	130287011		1884	4110	5994	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130287011G>C	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1964G>C	3.37:g.130287011G>C	ENSP00000351310:p.Gly655Ala						p.G655A	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			5	1995	+			655			Nonhelical region.|VWFA 4.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.1964G>C	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655380	0.47467	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.85013	-1.93;-1.93	5.53	3.74	0.42951	von Willebrand factor, type A (3);	0.102946	0.43416	D	0.000576	D	0.89364	0.6694	M	0.70108	2.13	0.49687	D	0.999819	D	0.69078	0.997	P	0.61800	0.894	D	0.87733	0.2580	10	0.42905	T	0.14	.	11.3694	0.49692	0.1474:0.0:0.8526:0.0	.	655	A6NMZ7	CO6A6_HUMAN	A	655	ENSP00000351310:G655A;ENSP00000399236:G655A	ENSP00000351310:G655A	G	+	2	0	COL6A6	131769701	1.000000	0.71417	0.599000	0.28851	0.096000	0.18686	9.529000	0.98049	0.715000	0.32103	0.655000	0.94253	GGA		0.418	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		50	202	0	0	0	0.01441	0	50	202				
EPHB1	2047	broad.mit.edu	37	3	134873067	134873067	+	Silent	SNP	G	G	A	rs534067316		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:134873067G>A	ENST00000398015.3	+	6	1741	c.1371G>A	c.(1369-1371)ccG>ccA	p.P457P	EPHB1_ENST00000493838.1_Silent_p.P18P	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	457	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGCCACAGCCGGAGCAGCCCA	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		20256	0.001		0.0	False		,,,				2504	0.0						uc003eqt.2		NA																	0				lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(1369-1371)CCG>CCA		ephrin receptor EphB1 precursor							139.0	148.0	145.0					3																	134873067		2194	4298	6492	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134873067G>A	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1371G>A	3.37:g.134873067G>A						EPHB1_uc003equ.2_Silent_p.P18P	p.P457P	NM_004441	NP_004432	P54762	EPHB1_HUMAN			6	1591	+			457			Fibronectin type-III 2.|Extracellular (Potential).		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.1371G>A	CCDS46921.1																																																																																				0.557	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		4	219	0	0	0	0.009096	0	4	219				
PIK3CB	5291	broad.mit.edu	37	3	138375084	138375084	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:138375084A>G	ENST00000477593.1	-	22	3048	c.2975T>C	c.(2974-2976)aTt>aCt	p.I992T	PIK3CB_ENST00000289153.2_Missense_Mutation_p.I992T|PIK3CB_ENST00000544716.1_Missense_Mutation_p.I443T			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	992	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.I992T(2)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	CCGTCGTAAAATCAGATATGC	0.458																																							uc011bmq.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(2974-2976)ATT>ACT		catalytic phosphatidylinositol 3-kinase beta							121.0	104.0	110.0					3																	138375084		2203	4300	6503	SO:0001583	missense	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138375084A>G		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.2975T>C	3.37:g.138375084A>G	ENSP00000418143:p.Ile992Thr					PIK3CB_uc011bmn.1_Missense_Mutation_p.I504T|PIK3CB_uc011bmo.1_Missense_Mutation_p.I443T|PIK3CB_uc011bmp.1_Missense_Mutation_p.I579T|PIK3CB_uc003est.1_5'Flank	p.I992T	NM_006219	NP_006210	P42338	PK3CB_HUMAN			21	2975	-			992			PI3K/PI4K.		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.2975T>C	CCDS3104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.05|19.05	3.751294|3.751294	0.69533|0.69533	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000493568|ENST00000477593;ENST00000544716;ENST00000289153	.|T;T;T	.|0.81330	.|-1.48;-1.48;-1.48	5.98|5.98	5.98|5.98	0.97165|0.97165	.|Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	.|0.111469	.|0.64402	.|D	.|0.000004	D|D	0.84759|0.84759	0.5543|0.5543	L|L	0.59967|0.59967	1.855|1.855	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.41159	.|0.74;0.604;0.564	.|P;B;P	.|0.50440	.|0.641;0.363;0.534	D|D	0.85563|0.85563	0.1229|0.1229	5|10	.|0.62326	.|D	.|0.03	-12.2152|-12.2152	16.4622|16.4622	0.84064|0.84064	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|992;579;443	.|P42338;B4DZI3;Q68DL0	.|PK3CB_HUMAN;.;.	L|T	624|992;443;992	.|ENSP00000418143:I992T;ENSP00000438259:I443T;ENSP00000289153:I992T	.|ENSP00000289153:I992T	F|I	-|-	1|2	0|0	PIK3CB|PIK3CB	139857774|139857774	1.000000|1.000000	0.71417|0.71417	0.917000|0.917000	0.36280|0.36280	0.816000|0.816000	0.46133|0.46133	9.339000|9.339000	0.96797|0.96797	2.289000|2.289000	0.77006|0.77006	0.533000|0.533000	0.62120|0.62120	TTT|ATT		0.458	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			12	41	0	0	0	0.016723	0	12	41				
CLSTN2	64084	broad.mit.edu	37	3	140277665	140277665	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:140277665C>T	ENST00000458420.3	+	12	2197	c.2007C>T	c.(2005-2007)gcC>gcT	p.A669A		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	669					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.A669A(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GCACCTTCGCCAAAACCGAAG	0.532										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	GBM(45;858 913 3709 36904 37282)	uc003etn.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(2005-2007)GCC>GCT		calsyntenin 2 precursor							48.0	49.0	49.0					3																	140277665		2203	4300	6503	SO:0001819	synonymous_variant	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140277665C>T	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2007C>T	3.37:g.140277665C>T		HNSCC(16;0.037)					p.A669A	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			12	2197	+			669			Extracellular (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Silent	SNP	ENST00000458420.3	37	c.2007C>T	CCDS3112.1																																																																																				0.532	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		35	89	0	0	0	0.017118	0	35	89				
PCOLCE2	26577	broad.mit.edu	37	3	142567171	142567171	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:142567171A>T	ENST00000295992.3	-	3	642	c.336T>A	c.(334-336)ccT>ccA	p.P112P	PCOLCE2_ENST00000485766.1_Silent_p.P112P	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	112	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)	p.P112P(1)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						CAAGGGCTCCAGGCCGGAAAG	0.547																																							uc003evd.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(334-336)CCT>CCA		procollagen C-endopeptidase enhancer 2							91.0	85.0	87.0					3																	142567171		2203	4300	6503	SO:0001819	synonymous_variant	26577					extracellular region	collagen binding|heparin binding|peptidase activator activity	g.chr3:142567171A>T	AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.336T>A	3.37:g.142567171A>T							p.P112P	NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN			3	532	-			112			CUB 1.		B2RCH9|D3DNG4|Q9BRH3	Silent	SNP	ENST00000295992.3	37	c.336T>A	CCDS3127.1																																																																																				0.547	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1	NM_013363		51	94	0	0	0	0.01441	0	51	94				
ZIC4	84107	broad.mit.edu	37	3	147108910	147108910	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:147108910C>T	ENST00000383075.3	-	4	1324	c.812G>A	c.(811-813)tGc>tAc	p.C271Y	ZIC4_ENST00000473123.1_Missense_Mutation_p.C271Y|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000425731.3_Missense_Mutation_p.C309Y|ZIC4_ENST00000491672.1_Missense_Mutation_p.C65Y|ZIC4_ENST00000484399.1_Missense_Mutation_p.C271Y|ZIC4_ENST00000525172.2_Missense_Mutation_p.C321Y	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	271						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C271Y(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GCACTTGTCGCAGCCCCGCAC	0.637																																							uc003ewd.1		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(811-813)TGC>TAC		zinc finger protein of the cerebellum 4							41.0	47.0	45.0					3																	147108910		2203	4300	6503	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147108910C>T	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.812G>A	3.37:g.147108910C>T	ENSP00000372553:p.Cys271Tyr					ZIC4_uc003ewc.1_Missense_Mutation_p.C201Y|ZIC4_uc011bno.1_Missense_Mutation_p.C321Y	p.C271Y	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN			4	1085	-			271			C2H2-type 5.		A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.812G>A	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844309	0.91197	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000491672	D;D;D;D;D;D	0.99974	-10.2;-10.2;-10.2;-10.2;-10.2;-10.2	4.85	4.85	0.62838	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000110	D	0.99977	0.9993	M	0.92026	3.265	0.53688	D	0.999971	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96356	0.9262	9	0.87932	D	0	.	17.9625	0.89090	0.0:1.0:0.0:0.0	.	321;271	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	Y	271;309;321;271;271;65	ENSP00000372553:C271Y;ENSP00000397695:C309Y;ENSP00000435509:C321Y;ENSP00000417855:C271Y;ENSP00000420775:C271Y;ENSP00000418277:C65Y	ENSP00000372553:C271Y	C	-	2	0	ZIC4	148591600	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.734000	0.84928	2.229000	0.72834	0.462000	0.41574	TGC		0.637	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			18	44	0	0	0	0.016522	0	18	44				
ZIC4	84107	broad.mit.edu	37	3	147108987	147108987	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:147108987G>T	ENST00000383075.3	-	4	1247	c.735C>A	c.(733-735)ttC>ttA	p.F245L	ZIC4_ENST00000473123.1_Missense_Mutation_p.F245L|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000425731.3_Missense_Mutation_p.F283L|ZIC4_ENST00000491672.1_Missense_Mutation_p.F39L|ZIC4_ENST00000484399.1_Missense_Mutation_p.F245L|ZIC4_ENST00000525172.2_Missense_Mutation_p.F295L	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	245						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F245L(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TGCTGTTGGCGAAGCGCCGCT	0.612																																							uc003ewd.1		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(733-735)TTC>TTA		zinc finger protein of the cerebellum 4							34.0	36.0	35.0					3																	147108987		2201	4300	6501	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147108987G>T	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.735C>A	3.37:g.147108987G>T	ENSP00000372553:p.Phe245Leu					ZIC4_uc003ewc.1_Missense_Mutation_p.F175L|ZIC4_uc011bno.1_Missense_Mutation_p.F295L	p.F245L	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN			4	1008	-			245			C2H2-type 4.		A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.735C>A	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746098	0.89663	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000491672	T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01	4.94	3.15	0.36227	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48286	D	0.000185	T	0.64735	0.2625	M	0.87328	2.875	0.50632	D	0.999880	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.73975	-0.3813	9	0.87932	D	0	.	8.3052	0.32038	0.2404:0.0:0.7596:0.0	.	295;245	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	L	245;283;295;245;245;39	ENSP00000372553:F245L;ENSP00000397695:F283L;ENSP00000435509:F295L;ENSP00000417855:F245L;ENSP00000420775:F245L;ENSP00000418277:F39L	ENSP00000372553:F245L	F	-	3	2	ZIC4	148591677	0.995000	0.38212	1.000000	0.80357	0.993000	0.82548	0.364000	0.20325	0.497000	0.27926	0.462000	0.41574	TTC		0.612	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			22	34	1	0	2.27525e-19	0.021523	2.9147e-19	22	34				
AGTR1	185	broad.mit.edu	37	3	148459426	148459426	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:148459426C>A	ENST00000497524.1	+	2	995	c.604C>A	c.(604-606)Ctg>Atg	p.L202M	AGTR1_ENST00000542281.1_Missense_Mutation_p.L202M|AGTR1_ENST00000418473.2_Missense_Mutation_p.L202M|AGTR1_ENST00000474935.1_Missense_Mutation_p.L202M|AGTR1_ENST00000349243.3_Missense_Mutation_p.L202M|AGTR1_ENST00000461609.1_Missense_Mutation_p.L202M|AGTR1_ENST00000402260.1_Missense_Mutation_p.L202M|AGTR1_ENST00000475347.1_Missense_Mutation_p.L202M|AGTR1_ENST00000404754.2_Missense_Mutation_p.L202M	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	202					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)	p.L202M(2)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CAAAAATATACTGGGTTTCCT	0.373																																							uc003ewg.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(604-606)CTG>ATG		angiotensin II receptor, type 1	Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)						67.0	72.0	70.0					3																	148459426		2198	4299	6497	SO:0001583	missense	185				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	g.chr3:148459426C>A	M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.604C>A	3.37:g.148459426C>A	ENSP00000419422:p.Leu202Met					AGTR1_uc003ewh.2_Missense_Mutation_p.L202M|AGTR1_uc003ewi.2_Missense_Mutation_p.L202M|AGTR1_uc003ewj.2_Missense_Mutation_p.L202M|AGTR1_uc003ewk.2_Missense_Mutation_p.L202M	p.L202M	NM_031850	NP_114038	P30556	AGTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		4	1050	+			202			Helical; Name=5; (Potential).		Q13725|Q8TBK4	Missense_Mutation	SNP	ENST00000497524.1	37	c.604C>A	CCDS3137.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.063488	0.36373	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2	5.48	3.45	0.39498	GPCR, rhodopsin-like superfamily (1);	0.172115	0.39687	N	0.001298	T	0.52500	0.1738	M	0.69463	2.115	0.40451	D	0.980141	D	0.89917	1.0	D	0.85130	0.997	T	0.55211	-0.8176	10	0.72032	D	0.01	-7.0813	6.883	0.24183	0.0:0.6582:0.1465:0.1953	.	202	P30556	AGTR1_HUMAN	M	202	ENSP00000419422:L202M;ENSP00000273430:L202M;ENSP00000443186:L202M;ENSP00000398832:L202M;ENSP00000385612:L202M;ENSP00000419783:L202M;ENSP00000418084:L202M;ENSP00000418851:L202M;ENSP00000385641:L202M	ENSP00000273430:L202M	L	+	1	2	AGTR1	149942116	0.365000	0.25006	0.946000	0.38457	0.613000	0.37349	0.892000	0.28322	1.321000	0.45227	0.655000	0.94253	CTG		0.373	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1			16	63	1	0	4.7546e-09	0.004007	5.42592e-09	16	63				
SI	6476	broad.mit.edu	37	3	164712076	164712076	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:164712076C>T	ENST00000264382.3	-	41	4872	c.4810G>A	c.(4810-4812)Ggt>Agt	p.G1604S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1604	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.G1604S(2)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	ACAGTGCCACCATTAGCATGA	0.338										HNSCC(35;0.089)																													uc003fei.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(4810-4812)GGT>AGT		sucrase-isomaltase	Acarbose(DB00284)						110.0	107.0	108.0					3																	164712076		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164712076C>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4810G>A	3.37:g.164712076C>T	ENSP00000264382:p.Gly1604Ser	HNSCC(35;0.089)					p.G1604S	NM_001041	NP_001032	P14410	SUIS_HUMAN			41	4872	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1604			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4810G>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	34	5.377971	0.95945	.	.	ENSG00000090402	ENST00000264382	D	0.96334	-3.98	5.2	5.2	0.72013	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98658	0.9550	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98994	1.0809	10	0.62326	D	0.03	.	18.9473	0.92626	0.0:1.0:0.0:0.0	.	1604	P14410	SUIS_HUMAN	S	1604	ENSP00000264382:G1604S	ENSP00000264382:G1604S	G	-	1	0	SI	166194770	1.000000	0.71417	0.975000	0.42487	0.994000	0.84299	7.388000	0.79795	2.876000	0.98609	0.644000	0.83932	GGT		0.338	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		16	77	0	0	0	0.004007	0	16	77				
ZBBX	79740	broad.mit.edu	37	3	167078466	167078466	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:167078466G>T	ENST00000392766.2	-	7	659	c.319C>A	c.(319-321)Caa>Aaa	p.Q107K	ZBBX_ENST00000455345.2_Missense_Mutation_p.Q107K|ZBBX_ENST00000392767.2_Missense_Mutation_p.Q107K|ZBBX_ENST00000392764.1_Missense_Mutation_p.Q78K|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000307529.5_Missense_Mutation_p.Q107K	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	107						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Q107K(4)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TATTTACCTTGAATCTGTTCC	0.269																																							uc003fep.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(319-321)CAA>AAA		zinc finger, B-box domain containing							38.0	39.0	39.0					3																	167078466		1777	4041	5818	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167078466G>T	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.319C>A	3.37:g.167078466G>T	ENSP00000376519:p.Gln107Lys					ZBBX_uc011bpc.1_Missense_Mutation_p.Q107K|ZBBX_uc003feq.2_Missense_Mutation_p.Q78K	p.Q107K	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN			7	642	-			107					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.319C>A	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	G	13.72	2.322328	0.41096	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764;ENST00000474464	T;T;T;T;T;T	0.30981	3.02;3.02;3.02;3.02;2.84;1.51	5.71	3.85	0.44370	.	.	.	.	.	T	0.28732	0.0712	L	0.57536	1.79	0.23841	N	0.996693	P;B	0.35793	0.521;0.386	B;B	0.33121	0.158;0.075	T	0.10965	-1.0607	9	0.40728	T	0.16	-9.6702	9.3722	0.38261	0.0:0.1576:0.6786:0.1638	.	107;107	A8MT70-2;A8MT70	.;ZBBX_HUMAN	K	107;107;107;107;78;107	ENSP00000376519:Q107K;ENSP00000376520:Q107K;ENSP00000390232:Q107K;ENSP00000305065:Q107K;ENSP00000376517:Q78K;ENSP00000419307:Q107K	ENSP00000305065:Q107K	Q	-	1	0	ZBBX	168561160	1.000000	0.71417	0.977000	0.42913	0.300000	0.27592	1.511000	0.35801	0.820000	0.34516	0.650000	0.86243	CAA		0.269	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		7	18	1	0	0.000157383	0.00308	0.000165845	7	18				
SEC62	7095	broad.mit.edu	37	3	169693437	169693437	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:169693437G>T	ENST00000337002.4	+	2	136	c.78G>T	c.(76-78)aaG>aaT	p.K26N	SEC62-AS1_ENST00000479626.1_RNA|SEC62_ENST00000480708.1_Missense_Mutation_p.K26N	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	26					cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.K26N(2)		NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						CTGTGGCCAAGTATCTTCGAT	0.353																																							uc003fgg.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(76-78)AAG>AAT		translocation protein 1							116.0	108.0	111.0					3																	169693437		2203	4300	6503	SO:0001583	missense	7095				cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity	g.chr3:169693437G>T	D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952			11846	protein-coding gene	gene with protein product		602173	"""translocation protein 1"""	TLOC1		9020021, 10799540	Standard	NM_003262		Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	ENST00000337002.4:c.78G>T	3.37:g.169693437G>T	ENSP00000337688:p.Lys26Asn					SEC62_uc003fgh.2_Missense_Mutation_p.K26N	p.K26N	NM_003262	NP_003253	Q99442	SEC62_HUMAN			2	109	+			26			Cytoplasmic (Potential).		D3DNQ0|O00682|O00729	Missense_Mutation	SNP	ENST00000337002.4	37	c.78G>T	CCDS3210.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926863	0.52759	.	.	ENSG00000008952	ENST00000337002;ENST00000480708	T;T	0.12984	2.63;2.63	6.02	-3.7	0.04437	.	0.000000	0.85682	D	0.000000	T	0.25531	0.0621	L	0.56124	1.755	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.00482	-1.1713	10	0.38643	T	0.18	-13.0728	13.3425	0.60553	0.6482:0.0:0.3518:0.0	.	26	Q99442	SEC62_HUMAN	N	26	ENSP00000337688:K26N;ENSP00000420331:K26N	ENSP00000337688:K26N	K	+	3	2	SEC62	171176131	0.998000	0.40836	0.956000	0.39512	0.998000	0.95712	0.486000	0.22340	-0.585000	0.05905	0.655000	0.94253	AAG		0.353	SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352043.1			35	72	1	0	6.97489e-18	0.021022	8.76332e-18	35	72				
SLC7A14	57709	broad.mit.edu	37	3	170216672	170216672	+	Splice_Site	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:170216672C>A	ENST00000231706.5	-	4	858	c.543G>T	c.(541-543)ggG>ggT	p.G181G	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	181					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.G181G(3)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CTTCACCTTTCCCTAGAGAGG	0.488																																							uc003fgz.2		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5						c.(541-543)GGG>GGT		solute carrier family 7 (cationic amino acid							88.0	72.0	78.0					3																	170216672		2203	4300	6503	SO:0001630	splice_region_variant	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170216672C>A	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.542-1G>T	3.37:g.170216672C>A						CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	p.G181G	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		4	859	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		181					B3KV33|Q9HCF9	Silent	SNP	ENST00000231706.5	37	c.543G>T	CCDS33892.1																																																																																				0.488	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949	Silent	22	61	1	0	1.96292e-10	0.010504	2.26313e-10	22	61				
NLGN1	22871	broad.mit.edu	37	3	173993231	173993231	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:173993231T>C	ENST00000457714.1	+	5	1202	c.773T>C	c.(772-774)tTt>tCt	p.F258S	NLGN1_ENST00000361589.4_Missense_Mutation_p.F258S|NLGN1_ENST00000401917.3_Missense_Mutation_p.F298S|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000545397.1_Missense_Mutation_p.F258S	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	275					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|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)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.F258S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ATCACTGTTTTTGGATCTGGT	0.428																																							uc003fio.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(772-774)TTT>TCT		neuroligin 1							95.0	93.0	94.0					3																	173993231		2203	4299	6502	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173993231T>C	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.773T>C	3.37:g.173993231T>C	ENSP00000392500:p.Phe258Ser					NLGN1_uc010hww.1_Missense_Mutation_p.F298S|NLGN1_uc003fip.1_Missense_Mutation_p.F258S	p.F258S	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		5	1196	+	Ovarian(172;0.0025)		275			Extracellular (Potential).		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.773T>C	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.425276	0.83667	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.86847	0.6031	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89573	0.3815	10	0.87932	D	0	.	15.7739	0.78193	0.0:0.0:0.0:1.0	.	298;258	D2X2H5;Q8N2Q7-2	.;.	S	258;258;298;258;298	ENSP00000392500:F258S;ENSP00000354541:F258S;ENSP00000410374:F298S;ENSP00000441108:F258S;ENSP00000385750:F298S	ENSP00000354541:F258S	F	+	2	0	NLGN1	175475925	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.868000	0.87116	2.367000	0.80283	0.528000	0.53228	TTT		0.428	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		70	89	0	0	0	0.01441	0	70	89				
SENP2	59343	broad.mit.edu	37	3	185329518	185329518	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:185329518T>C	ENST00000296257.5	+	8	1042	c.802T>C	c.(802-804)Ttt>Ctt	p.F268L	SENP2_ENST00000545472.1_Missense_Mutation_p.F258L|SENP2_ENST00000427465.2_Missense_Mutation_p.F92L	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	268					cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)	p.F268L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			AACAACTCAGTTTGTTCCAAA	0.378																																							uc003fpn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(802-804)TTT>CTT		SUMO1/sentrin/SMT3 specific protease 2							88.0	92.0	91.0					3																	185329518		2203	4300	6503	SO:0001583	missense	59343				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity	g.chr3:185329518T>C	AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"""SUMO1/sentrin/SMT3 specific protease 2"""			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.802T>C	3.37:g.185329518T>C	ENSP00000296257:p.Phe268Leu					SENP2_uc011brv.1_Missense_Mutation_p.F258L|SENP2_uc011brw.1_Missense_Mutation_p.F81L	p.F268L	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		8	973	+	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		268					B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Missense_Mutation	SNP	ENST00000296257.5	37	c.802T>C	CCDS33902.1	.	.	.	.	.	.	.	.	.	.	T	8.622	0.891687	0.17613	.	.	ENSG00000163904	ENST00000545472;ENST00000296257;ENST00000437107;ENST00000427465	T;T;T	0.20332	2.09;2.11;2.08	6.15	1.97	0.26223	.	0.262232	0.27826	N	0.017693	T	0.05731	0.0150	N	0.01874	-0.695	0.26774	N	0.969735	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38542	-0.9656	10	0.09590	T	0.72	-0.534	5.3751	0.16160	0.0:0.1727:0.1523:0.675	.	258;268	B4DQ42;Q9HC62	.;SENP2_HUMAN	L	258;268;139;92	ENSP00000439653:F258L;ENSP00000296257:F268L;ENSP00000394562:F92L	ENSP00000296257:F268L	F	+	1	0	SENP2	186812212	0.998000	0.40836	0.997000	0.53966	0.948000	0.59901	1.112000	0.31172	0.516000	0.28340	0.523000	0.50628	TTT		0.378	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	NM_021627		3	71	0	0	0	0.004672	0	3	71				
IGF2BP2	10644	broad.mit.edu	37	3	185431229	185431229	+	Intron	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:185431229T>C	ENST00000382199.2	-	3	335				IGF2BP2_ENST00000421047.2_Intron|C3orf65_ENST00000296270.1_Missense_Mutation_p.L5P|IGF2BP2_ENST00000346192.3_Intron|IGF2BP2_ENST00000457616.2_Intron	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2						anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GCAACACCACTAGATAACTGT	0.458																																							uc003fpr.2		NA																	0					0						c.(13-15)CTA>CCA		RecName: Full=Putative uncharacterized protein C3orf65;							94.0	91.0	92.0					3																	185431229		1878	4123	6001	SO:0001627	intron_variant	646600							g.chr3:185431229T>C	BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.240-15094A>G	3.37:g.185431229T>C						IGF2BP2_uc010hyi.2_Intron|IGF2BP2_uc010hyj.2_Intron|IGF2BP2_uc010hyk.2_Intron|IGF2BP2_uc010hyl.2_Intron|IGF2BP2_uc003fpo.2_Intron|IGF2BP2_uc003fpp.2_Intron|IGF2BP2_uc003fpq.2_Intron|C3orf65_uc003fps.3_RNA	p.L5P	NR_027317				OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		1	190	+	all_cancers(143;1.5e-10)|Ovarian(172;0.0386)							A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Missense_Mutation	SNP	ENST00000382199.2	37	c.14T>C	CCDS3273.2	.	.	.	.	.	.	.	.	.	.	T	10.06	1.247746	0.22880	.	.	ENSG00000163915	ENST00000296270	.	.	.	3.42	2.22	0.28083	.	.	.	.	.	T	0.57902	0.2085	.	.	.	0.09310	N	0.999994	D	0.76494	0.999	D	0.71414	0.973	T	0.42241	-0.9463	7	0.87932	D	0	.	6.8323	0.23917	0.0:0.0:0.2392:0.7608	.	5	Q96M15	CC065_HUMAN	P	5	.	ENSP00000296270:L5P	L	+	2	0	C3orf65	186913923	0.005000	0.15991	0.055000	0.19348	0.248000	0.25809	-0.009000	0.12765	0.685000	0.31468	0.405000	0.27470	CTA		0.458	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157087.2	NM_006548		13	64	0	0	0	0.016723	0	13	64				
HRG	3273	broad.mit.edu	37	3	186395193	186395193	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:186395193C>T	ENST00000232003.4	+	7	1179	c.1099C>T	c.(1099-1101)Cat>Tat	p.H367Y		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	367	His/Pro-rich (HRR).|Necessary for endothelial cell focal adhesions and anti-angiogenic activities.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.H367Y(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		acaccatccccatgcacacca	0.512																																							uc003fqq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1099-1101)CAT>TAT		histidine-rich glycoprotein precursor							181.0	134.0	150.0					3																	186395193		2203	4300	6503	SO:0001583	missense	3273				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	g.chr3:186395193C>T		CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.1099C>T	3.37:g.186395193C>T	ENSP00000232003:p.His367Tyr						p.H367Y	NM_000412	NP_000403	P04196	HRG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)	7	1122	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		367			His/Pro-rich (HRR).		B9EK35|D3DNU7	Missense_Mutation	SNP	ENST00000232003.4	37	c.1099C>T	CCDS3280.1	.	.	.	.	.	.	.	.	.	.	C	9.531	1.110812	0.20714	.	.	ENSG00000113905	ENST00000232003	T	0.15256	2.44	4.4	3.52	0.40303	.	0.364370	0.23874	N	0.043716	T	0.24275	0.0588	M	0.79258	2.445	0.19945	N	0.999944	D	0.58970	0.984	P	0.45998	0.5	T	0.12941	-1.0528	10	0.37606	T	0.19	-7.6187	9.9229	0.41474	0.2031:0.7969:0.0:0.0	.	367	P04196	HRG_HUMAN	Y	367	ENSP00000232003:H367Y	ENSP00000232003:H367Y	H	+	1	0	HRG	187877887	0.068000	0.21057	0.197000	0.23402	0.001000	0.01503	0.525000	0.22956	1.209000	0.43321	-0.493000	0.04662	CAT		0.512	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412		5	21	0	0	0	0.014758	0	5	21				
LPP	4026	broad.mit.edu	37	3	188202445	188202445	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:188202445A>T	ENST00000312675.4	+	4	505	c.259A>T	c.(259-261)Aac>Tac	p.N87Y	LPP_ENST00000543006.1_Missense_Mutation_p.N87Y|LPP_ENST00000448637.1_Missense_Mutation_p.N87Y	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	87	Pro-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.N87Y(2)	HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TATCTCTGGAAACTTTCCTCC	0.413			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																		uc003frs.1		NA		Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"""L, M"""	HMGA2|MLL|C12orf9		lipoma|leukemia	HMGA2/LPP(161)	2	Substitution - Missense(2)		lung(2)	soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1)	165						c.(259-261)AAC>TAC		LIM domain containing preferred translocation							179.0	177.0	178.0					3																	188202445		2203	4300	6503	SO:0001583	missense	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188202445A>T	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.259A>T	3.37:g.188202445A>T	ENSP00000318089:p.Asn87Tyr					LPP_uc011bsg.1_Missense_Mutation_p.N87Y|LPP_uc011bsi.1_Missense_Mutation_p.N87Y|LPP_uc003frt.2_Missense_Mutation_p.N87Y	p.N87Y	NM_005578	NP_005569	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	4	505	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	87			Pro-rich.		A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	c.259A>T	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	A	12.84	2.057154	0.36277	.	.	ENSG00000145012	ENST00000448637;ENST00000416784;ENST00000414139;ENST00000420410;ENST00000312675;ENST00000543006	T;T;T;T	0.56103	1.89;0.89;0.48;0.48	5.18	2.3	0.28687	.	0.671688	0.15617	N	0.253075	T	0.33933	0.0880	N	0.22421	0.69	0.23632	N	0.997241	B;B;B	0.22346	0.068;0.013;0.0	B;B;B	0.15052	0.012;0.007;0.001	T	0.22382	-1.0218	10	0.56958	D	0.05	.	6.0403	0.19730	0.6631:0.1418:0.0:0.195	.	87;87;87	B7Z8W0;C9JUT4;Q93052	.;.;LPP_HUMAN	Y	87	ENSP00000393602:N87Y;ENSP00000410340:N87Y;ENSP00000318089:N87Y;ENSP00000438891:N87Y	ENSP00000318089:N87Y	N	+	1	0	LPP	189685139	0.993000	0.37304	1.000000	0.80357	0.949000	0.60115	0.696000	0.25541	0.865000	0.35603	0.533000	0.62120	AAC		0.413	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		51	290	0	0	0	0.01441	0	51	290				
ZFYVE28	57732	broad.mit.edu	37	4	2307157	2307157	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:2307157C>T	ENST00000290974.2	-	8	1249	c.910G>A	c.(910-912)Gct>Act	p.A304T	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.A274T|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.A234T	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	304					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.A304T(2)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GCCAGGGCAGCGGGTCCCTGC	0.657																																							uc003gex.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(910-912)GCT>ACT		zinc finger, FYVE domain containing 28							42.0	42.0	42.0					4																	2307157		2203	4298	6501	SO:0001583	missense	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2307157C>T	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.910G>A	4.37:g.2307157C>T	ENSP00000290974:p.Ala304Thr					ZFYVE28_uc011bvk.1_Missense_Mutation_p.A234T|ZFYVE28_uc011bvl.1_Missense_Mutation_p.A274T|ZFYVE28_uc003gew.1_Missense_Mutation_p.A190T	p.A304T	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN			8	1229	-			304					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	ENST00000290974.2	37	c.910G>A	CCDS33942.1	.	.	.	.	.	.	.	.	.	.	C	0.509	-0.867595	0.02590	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312	T;T;T	0.57595	0.39;0.39;0.39	5.21	-10.2	0.00374	.	1.062670	0.07285	N	0.871408	T	0.16938	0.0407	N	0.03608	-0.345	0.38427	D	0.946337	B;B	0.13594	0.006;0.008	B;B	0.08055	0.003;0.001	T	0.10428	-1.0630	10	0.14656	T	0.56	.	2.1408	0.03775	0.2641:0.338:0.2652:0.1327	.	274;304	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	T	304;274;234	ENSP00000290974:A304T;ENSP00000425706:A274T;ENSP00000426299:A234T	ENSP00000290974:A304T	A	-	1	0	ZFYVE28	2276955	0.141000	0.22595	0.003000	0.11579	0.001000	0.01503	-0.683000	0.05179	-1.335000	0.02241	-0.985000	0.02557	GCT		0.657	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		43	63	0	0	0	0.00874	0	43	63				
MSX1	4487	broad.mit.edu	37	4	4864774	4864774	+	Nonsense_Mutation	SNP	C	C	A	rs375828884		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:4864774C>A	ENST00000382723.4	+	2	1050	c.816C>A	c.(814-816)taC>taA	p.Y272*		NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	272					activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.Y272*(1)		endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCTCGCTCTACGGTGCCTCTG	0.706																																							uc003gif.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(814-816)TAC>TAA		msh homeobox 1							10.0	11.0	11.0					4																	4864774		2118	4176	6294	SO:0001587	stop_gained	4487				apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity	g.chr4:4864774C>A	M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"""Homeoboxes / ANTP class : NKL subclass"""	7391	protein-coding gene	gene with protein product		142983	"""msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)"", ""msh homeobox homolog 1 (Drosophila)"""	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.816C>A	4.37:g.4864774C>A	ENSP00000372170:p.Tyr272*						p.Y272*	NM_002448	NP_002439	P28360	MSX1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	2	1051	+			266					A0SZU5|A8K3M1|Q96NY4	Nonsense_Mutation	SNP	ENST00000382723.4	37	c.816C>A	CCDS3378.2	.	.	.	.	.	.	.	.	.	.	C	36	5.971013	0.97156	.	.	ENSG00000163132	ENST00000382723	.	.	.	4.81	3.05	0.35203	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.1785	9.2133	0.37331	0.0:0.759:0.0:0.241	.	.	.	.	X	272	.	ENSP00000372170:Y272X	Y	+	3	2	MSX1	4915675	0.977000	0.34250	0.991000	0.47740	0.715000	0.41141	0.257000	0.18369	1.149000	0.42402	0.462000	0.41574	TAC		0.706	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206700.3			7	25	1	0	5.18039e-06	0.00308	5.60197e-06	7	25				
WFS1	7466	broad.mit.edu	37	4	6303098	6303099	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:6303098_6303099GG>TT	ENST00000226760.1	+	8	1746_1747	c.1576_1577GG>TT	c.(1576-1578)GGc>TTc	p.G526F	WFS1_ENST00000503569.1_Missense_Mutation_p.G526F	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	526					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)	p.G526F(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GAATTTCAAGGGCACCTACTGC	0.604																																							uc003giy.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(1576-1578)GGC>TTC		wolframin																																				SO:0001583	missense	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6303098_6303099GG>TT	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	Exception_encountered	4.37:g.6303098_6303099delinsTT	ENSP00000226760:p.Gly526Phe					WFS1_uc003gix.2_Missense_Mutation_p.G526F|WFS1_uc003giz.2_Missense_Mutation_p.G344F	p.G526F	NM_001145853	NP_001139325	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	1742_1743	+			526					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	DNP	ENST00000226760.1	37	c.1576_1577GG>TT	CCDS3386.1																																																																																				0.604	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			24	156	0	0	0	0.004672	0	24	156				
SLC34A2	10568	broad.mit.edu	37	4	25677973	25677973	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:25677973G>T	ENST00000382051.3	+	13	1725	c.1675G>T	c.(1675-1677)Ggg>Tgg	p.G559W	SLC34A2_ENST00000504570.1_Missense_Mutation_p.G558W|SLC34A2_ENST00000503434.1_Missense_Mutation_p.G558W	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	559					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)	p.G559W(2)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GGTTGGTGTCGGGGTTCCCGT	0.597			T	ROS1	NSCLC																																		uc003grr.2		NA		Dom	yes		4	4p15.2	10568		"""solute carrier family 34 (sodium phosphate), member 2"""			E					2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)|kidney(1)	5						c.(1675-1677)GGG>TGG		solute carrier family 34 (sodium phosphate),							116.0	110.0	112.0					4																	25677973		2203	4300	6503	SO:0001583	missense	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25677973G>T	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1675G>T	4.37:g.25677973G>T	ENSP00000371483:p.Gly559Trp					SLC34A2_uc003grs.2_Missense_Mutation_p.G558W|SLC34A2_uc010iev.2_Missense_Mutation_p.G558W	p.G559W	NM_006424	NP_006415	O95436	NPT2B_HUMAN			13	1756	+		Breast(46;0.0503)	559			Helical; Name=M8; (Potential).		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.1675G>T	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539084	0.27475	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.27104	1.69;1.69;1.69	5.18	5.18	0.71444	.	0.270102	0.41097	D	0.000943	T	0.55401	0.1918	M	0.85197	2.74	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.99	T	0.54009	-0.8357	10	0.87932	D	0	-12.9054	14.8505	0.70292	0.0:0.0:0.8474:0.1526	.	558;559	O95436-2;O95436	.;NPT2B_HUMAN	W	558;559;558	ENSP00000425501:G558W;ENSP00000371483:G559W;ENSP00000423021:G558W	ENSP00000371483:G559W	G	+	1	0	SLC34A2	25287071	1.000000	0.71417	0.282000	0.24776	0.029000	0.11900	3.597000	0.54031	2.584000	0.87258	0.561000	0.74099	GGG		0.597	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		30	126	1	0	1.61788e-16	0.012213	2.01336e-16	30	126				
ARAP2	116984	broad.mit.edu	37	4	36149346	36149346	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:36149346T>G	ENST00000303965.4	-	18	3512	c.3023A>C	c.(3022-3024)gAa>gCa	p.E1008A		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1008					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.E1008A(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TGTTAAGTTTTCAGCAAATAA	0.368																																							uc003gsq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(3022-3024)GAA>GCA		ArfGAP with RhoGAP domain, ankyrin repeat and PH							56.0	54.0	55.0					4																	36149346		2203	4299	6502	SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36149346T>G	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.3023A>C	4.37:g.36149346T>G	ENSP00000302895:p.Glu1008Ala						p.E1008A	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN			18	3361	-			1008					Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.3023A>C	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	T	18.63	3.666396	0.67814	.	.	ENSG00000047365	ENST00000303965	D	0.93488	-3.23	5.56	5.56	0.83823	.	0.054400	0.64402	D	0.000001	D	0.91392	0.7284	M	0.63843	1.955	0.35076	D	0.76294	D	0.57257	0.979	B	0.44224	0.444	D	0.93048	0.6463	10	0.37606	T	0.19	.	10.1213	0.42623	0.0:0.0746:0.0:0.9254	.	1008	Q8WZ64	ARAP2_HUMAN	A	1008	ENSP00000302895:E1008A	ENSP00000302895:E1008A	E	-	2	0	ARAP2	35825741	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.609000	0.54117	2.130000	0.65690	0.528000	0.53228	GAA		0.368	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		5	57	0	0	0	0.014758	0	5	57				
LIMCH1	22998	broad.mit.edu	37	4	41687737	41687737	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:41687737G>C	ENST00000313860.7	+	23	2880	c.2826G>C	c.(2824-2826)caG>caC	p.Q942H	LIMCH1_ENST00000513024.1_Missense_Mutation_p.Q795H|LIMCH1_ENST00000512946.1_Missense_Mutation_p.Q942H|LIMCH1_ENST00000503057.1_Missense_Mutation_p.Q1326H|LIMCH1_ENST00000512632.1_Missense_Mutation_p.Q865H|LIMCH1_ENST00000512820.1_Missense_Mutation_p.Q954H|LIMCH1_ENST00000514096.1_Missense_Mutation_p.Q782H|LIMCH1_ENST00000511496.1_Missense_Mutation_p.Q782H|LIMCH1_ENST00000508501.1_Missense_Mutation_p.Q941H|LIMCH1_ENST00000381753.4_Missense_Mutation_p.Q775H|LIMCH1_ENST00000509277.1_Missense_Mutation_p.Q775H|LIMCH1_ENST00000396595.3_Missense_Mutation_p.Q787H	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	942					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)	p.Q942H(2)|p.Q1326H(2)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						ATCCATCCCAGAATCAGCAGA	0.428																																							uc003gvu.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)|pancreas(1)|skin(1)	4						c.(2824-2826)CAG>CAC		LIM and calponin homology domains 1 isoform a							112.0	100.0	104.0					4																	41687737		2203	4300	6503	SO:0001583	missense	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41687737G>C	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.2826G>C	4.37:g.41687737G>C	ENSP00000316891:p.Gln942His					LIMCH1_uc003gvv.3_Missense_Mutation_p.Q942H|LIMCH1_uc003gvw.3_Missense_Mutation_p.Q941H|LIMCH1_uc003gvx.3_Missense_Mutation_p.Q954H|LIMCH1_uc003gwe.3_Missense_Mutation_p.Q865H|LIMCH1_uc003gvy.3_Missense_Mutation_p.Q770H|LIMCH1_uc003gwa.3_Missense_Mutation_p.Q782H|LIMCH1_uc003gvz.3_Missense_Mutation_p.Q1326H|LIMCH1_uc011byu.1_Missense_Mutation_p.Q775H|LIMCH1_uc003gwc.3_Missense_Mutation_p.Q787H|LIMCH1_uc003gwd.3_Missense_Mutation_p.Q775H|LIMCH1_uc011byv.1_Missense_Mutation_p.Q692H|LIMCH1_uc011byw.1_Missense_Mutation_p.Q241H	p.Q942H	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN			23	2880	+			942					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	ENST00000313860.7	37	c.2826G>C	CCDS33977.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.759|6.759	0.508841|0.508841	0.12883|0.12883	.|.	.|.	ENSG00000064042|ENSG00000064042	ENST00000513024;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000396595;ENST00000381753;ENST00000537405|ENST00000508466	T;T;T;T;T;T;T;T;T;T;T;T|.	0.48836|.	0.86;1.44;1.44;1.34;0.84;1.42;0.8;0.85;0.85;0.8;0.85;0.85|.	5.51|5.51	4.67|4.67	0.58626|0.58626	.|.	1.421050|.	0.03776|.	N|.	0.260568|.	T|T	0.32315|0.32315	0.0825|0.0825	N|N	0.22421|0.22421	0.69|0.69	0.24985|0.24985	N|N	0.991572|0.991572	P;B;B;B;P;P;D;P;P;B;P;B|.	0.64830|.	0.511;0.26;0.26;0.214;0.508;0.508;0.994;0.508;0.725;0.375;0.508;0.375|.	B;B;B;B;P;P;D;P;B;B;P;B|.	0.69479|.	0.135;0.212;0.17;0.085;0.601;0.601;0.964;0.601;0.319;0.332;0.532;0.332|.	T|T	0.19031|0.19031	-1.0318|-1.0318	10|5	0.59425|.	D|.	0.04|.	-0.1573|-0.1573	10.1656|10.1656	0.42877|0.42877	0.089:0.0:0.911:0.0|0.089:0.0:0.911:0.0	.|.	782;692;775;865;775;787;1326;795;954;941;942;942|.	E7EPK0;B7Z3G0;E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0|.	.;.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN|.	H|T	795;941;942;942;865;954;1326;782;1325;782;775;787;775;294|776	ENSP00000425222:Q795H;ENSP00000424825:Q941H;ENSP00000424645:Q942H;ENSP00000316891:Q942H;ENSP00000427045:Q865H;ENSP00000424437:Q954H;ENSP00000425631:Q1326H;ENSP00000421242:Q782H;ENSP00000426334:Q782H;ENSP00000422864:Q775H;ENSP00000379840:Q787H;ENSP00000371172:Q775H|.	ENSP00000316891:Q942H|.	Q|R	+|+	3|2	2|0	LIMCH1|LIMCH1	41382494|41382494	0.996000|0.996000	0.38824|0.38824	0.196000|0.196000	0.23383|0.23383	0.013000|0.013000	0.08279|0.08279	3.153000|3.153000	0.50685|0.50685	1.573000|1.573000	0.49748|0.49748	-0.258000|-0.258000	0.10820|0.10820	CAG|AGA		0.428	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		26	74	0	0	0	0.004656	0	26	74				
GNPDA2	132789	broad.mit.edu	37	4	44713078	44713078	+	Silent	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:44713078T>C	ENST00000295448.3	-	5	642	c.486A>G	c.(484-486)ctA>ctG	p.L162L	GNPDA2_ENST00000509756.1_Silent_p.L162L|GNPDA2_ENST00000507534.1_Silent_p.L92L|GNPDA2_ENST00000507917.1_Silent_p.L128L|GNPDA2_ENST00000511187.1_Intron	NM_138335.2	NP_612208.1	Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	162					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	glucosamine-6-phosphate deaminase activity (GO:0004342)|hydrolase activity (GO:0016787)	p.L162L(2)		endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						TATCCATTGCTAGAGTCTTTA	0.393																																					Colon(54;743 1010 7604 16453 19544)	Colon(54;743 1010 7604 16453 19544)	uc003gwy.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(484-486)CTA>CTG		glucosamine-6-phosphate deaminase 2							115.0	107.0	110.0					4																	44713078		2203	4300	6503	SO:0001819	synonymous_variant	132789				N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity	g.chr4:44713078T>C	AF247786	CCDS3469.1, CCDS59472.1, CCDS59473.1	4p13	2006-04-12			ENSG00000163281	ENSG00000163281	3.5.99.6		21526	protein-coding gene	gene with protein product	"""glucosamine-6-phosphate isomerase"""	613222				12965206	Standard	NM_001270880		Approved	SB52	uc003gwy.4	Q8TDQ7	OTTHUMG00000099415	ENST00000295448.3:c.486A>G	4.37:g.44713078T>C						GNPDA2_uc010iga.2_Silent_p.L128L|GNPDA2_uc011bzb.1_Silent_p.L92L|GNPDA2_uc003gwz.1_Silent_p.L162L	p.L162L	NM_138335	NP_612208	Q8TDQ7	GNPI2_HUMAN			5	643	-			162					B4DJF3|Q2VYF1|Q59EA7|Q8NCZ8|Q96BJ4|Q96NC6	Silent	SNP	ENST00000295448.3	37	c.486A>G	CCDS3469.1																																																																																				0.393	GNPDA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216874.3	NM_138335		41	100	0	0	0	0.007835	0	41	100				
LNX1	84708	broad.mit.edu	37	4	54327087	54327087	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:54327087C>T	ENST00000263925.7	-	11	2488	c.2174G>A	c.(2173-2175)gGc>gAc	p.G725D	FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000306888.2_Missense_Mutation_p.G629D	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	725					protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TAAAAAAGTGCCAGGCCAAGA	0.338																																							uc003hag.3		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(2173-2175)GGC>GAC		ligand of numb-protein X 1 isoform a							106.0	111.0	109.0					4																	54327087		2202	4296	6498	SO:0001583	missense	84708					cytoplasm	zinc ion binding	g.chr4:54327087C>T	AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.2174G>A	4.37:g.54327087C>T	ENSP00000263925:p.Gly725Asp					PDGFRA_uc003haa.2_Intron|LNX1_uc003haf.3_Missense_Mutation_p.G629D|LNX1_uc003hah.3_RNA	p.G725D	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)		11	2430	-	all_neural(26;0.153)		725					Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	ENST00000263925.7	37	c.2174G>A	CCDS47057.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341611	0.61073	.	.	ENSG00000072201	ENST00000306888;ENST00000538207;ENST00000263925	T;T	0.38240	1.15;1.15	4.82	4.82	0.62117	PDZ/DHR/GLGF (1);	0.105791	0.64402	D	0.000002	T	0.59945	0.2231	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.99	T	0.60782	-0.7195	10	0.52906	T	0.07	.	18.4405	0.90665	0.0:1.0:0.0:0.0	.	725;629	Q8TBB1;Q8TBB1-2	LNX1_HUMAN;.	D	629;563;725	ENSP00000302879:G629D;ENSP00000263925:G725D	ENSP00000263925:G725D	G	-	2	0	LNX1	54021844	1.000000	0.71417	1.000000	0.80357	0.142000	0.21351	7.050000	0.76620	2.658000	0.90341	0.460000	0.39030	GGC		0.338	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2			4	144	0	0	0	0.009096	0	4	144				
KIAA1211	57482	broad.mit.edu	37	4	57181273	57181273	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:57181273G>T	ENST00000504228.1	+	6	1710	c.1605G>T	c.(1603-1605)cgG>cgT	p.R535R	KIAA1211_ENST00000541073.1_Silent_p.R528R|KIAA1211_ENST00000264229.6_Silent_p.R535R			Q6ZU35	K1211_HUMAN	KIAA1211	535								p.R535R(2)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCATGCCCCGGCCCTACACGT	0.642																																							uc003hbk.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(1603-1605)CGG>CGT		hypothetical protein LOC57482							15.0	21.0	19.0					4																	57181273		2067	4192	6259	SO:0001819	synonymous_variant	57482							g.chr4:57181273G>T	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.1605G>T	4.37:g.57181273G>T						KIAA1211_uc010iha.2_Silent_p.R528R|KIAA1211_uc011bzz.1_Silent_p.R445R|KIAA1211_uc003hbm.1_Silent_p.R421R	p.R535R	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			8	1996	+	Glioma(25;0.08)|all_neural(26;0.101)		535					Q9NTE2|Q9NTP8|Q9ULK9	Silent	SNP	ENST00000504228.1	37	c.1605G>T	CCDS43230.1																																																																																				0.642	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		18	20	1	0	7.41877e-09	0.012319	8.44168e-09	18	20				
TECRL	253017	broad.mit.edu	37	4	65180482	65180482	+	Splice_Site	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:65180482C>A	ENST00000381210.3	-	5	546		c.e5-1		TECRL_ENST00000507440.1_Splice_Site|TECRL_ENST00000513125.1_Splice_Site	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like						lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CCAAAAACACCTGAAAATAAA	0.328																																							uc003hcv.2		NA																	0					0						c.e5-1		steroid 5 alpha-reductase 2-like 2							75.0	74.0	75.0					4																	65180482		2203	4300	6503	SO:0001630	splice_region_variant	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65180482C>A	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.436-1G>T	4.37:g.65180482C>A						TECRL_uc003hcw.2_Splice_Site_p.V146_splice	p.V146_splice	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN			5	545	-									Splice_Site	SNP	ENST00000381210.3	37	c.436_splice	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079973	0.55753	.	.	ENSG00000205678	ENST00000507440;ENST00000381210	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5536	0.84479	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TECRL	64863077	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	5.923000	0.70045	2.689000	0.91719	0.591000	0.81541	.		0.328	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874	Intron	6	94	1	0	5.9392e-07	0.001168	6.52147e-07	6	94				
SULT1B1	27284	broad.mit.edu	37	4	70592821	70592821	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:70592821G>C	ENST00000310613.3	-	8	1173	c.876C>G	c.(874-876)ttC>ttG	p.F292L		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	292					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)	p.F292L(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TCTCTGTGCGGAATTGAAGTG	0.393																																							uc003hen.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(874-876)TTC>TTG		sulfotransferase family, cytosolic, 1B, member							86.0	84.0	85.0					4																	70592821		2202	4298	6500	SO:0001583	missense	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70592821G>C	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.876C>G	4.37:g.70592821G>C	ENSP00000308770:p.Phe292Leu						p.F292L	NM_014465	NP_055280	O43704	ST1B1_HUMAN			8	1174	-			292					O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	ENST00000310613.3	37	c.876C>G	CCDS3530.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.014947	0.35511	.	.	ENSG00000173597	ENST00000310613	T	0.01998	4.51	4.9	0.0937	0.14477	.	0.212421	0.33438	N	0.004901	T	0.07503	0.0189	M	0.81239	2.535	0.35523	D	0.801594	D	0.61697	0.99	P	0.59595	0.86	T	0.11991	-1.0565	10	0.56958	D	0.05	.	5.8144	0.18484	0.3167:0.131:0.5523:0.0	.	292	O43704	ST1B1_HUMAN	L	292	ENSP00000308770:F292L	ENSP00000308770:F292L	F	-	3	2	SULT1B1	70627410	1.000000	0.71417	0.001000	0.08648	0.022000	0.10575	1.920000	0.40025	-0.139000	0.11414	-0.251000	0.11542	TTC		0.393	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465		10	126	0	0	0	0.006214	0	10	126				
MUC7	4589	broad.mit.edu	37	4	71346890	71346890	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:71346890A>C	ENST00000304887.5	+	3	619	c.429A>C	c.(427-429)gaA>gaC	p.E143D	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.E143D|MUC7_ENST00000413702.1_Missense_Mutation_p.E143D	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	143	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.E143D(2)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CTTCAAGAGAAAATGTTAACA	0.458																																							uc011cat.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(427-429)GAA>GAC		mucin 7, secreted precursor							196.0	181.0	186.0					4																	71346890		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71346890A>C	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.429A>C	4.37:g.71346890A>C	ENSP00000302021:p.Glu143Asp					MUC7_uc011cau.1_Missense_Mutation_p.E143D|MUC7_uc003hfj.2_Missense_Mutation_p.E143D|uc011cav.1_RNA	p.E143D	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	717	+			143			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.429A>C	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	A	7.943	0.743202	0.15642	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.53640	0.61;0.61;0.61	3.01	-3.5	0.04710	.	.	.	.	.	T	0.24122	0.0584	N	0.19112	0.55	0.09310	N	1	B	0.23650	0.089	B	0.18871	0.023	T	0.17653	-1.0362	8	.	.	.	.	4.3987	0.11376	0.2969:0.1787:0.0:0.5244	.	143	Q8TAX7	MUC7_HUMAN	D	143	ENSP00000407422:E143D;ENSP00000400585:E143D;ENSP00000302021:E143D	.	E	+	3	2	MUC7	71381479	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.320000	0.08028	-0.640000	0.05495	-0.333000	0.08304	GAA		0.458	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		49	261	0	0	0	0.01441	0	49	261				
ADAMTS3	9508	broad.mit.edu	37	4	73149304	73149304	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:73149304G>A	ENST00000286657.4	-	22	3203	c.3167C>T	c.(3166-3168)aCc>aTc	p.T1056I		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1056					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T1056I(2)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGGTGGCAGGGTGCTACTGCG	0.463																																					NSCLC(168;1941 2048 2918 13048 43078)	NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(3166-3168)ACC>ATC		ADAM metallopeptidase with thrombospondin type 1							135.0	130.0	132.0					4																	73149304		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73149304G>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.3167C>T	4.37:g.73149304G>A	ENSP00000286657:p.Thr1056Ile						p.T1056I	NM_014243	NP_055058	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		22	3204	-			1056					A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.3167C>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269690	0.40095	.	.	ENSG00000156140	ENST00000286657	T	0.58506	0.33	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.57272	0.2042	M	0.62723	1.935	0.46849	D	0.999224	B	0.24533	0.105	B	0.26770	0.073	T	0.53194	-0.8473	10	0.32370	T	0.25	.	16.519	0.84308	0.0:0.1305:0.8695:0.0	.	1056	O15072	ATS3_HUMAN	I	1056	ENSP00000286657:T1056I	ENSP00000286657:T1056I	T	-	2	0	ADAMTS3	73368168	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	6.174000	0.71943	2.616000	0.88540	0.591000	0.81541	ACC		0.463	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			65	129	0	0	0	0.01441	0	65	129				
CXCL9	4283	broad.mit.edu	37	4	76927399	76927399	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:76927399A>T	ENST00000264888.5	-	2	131	c.93T>A	c.(91-93)tgT>tgA	p.C31*	RP11-630D6.5_ENST00000501239.2_RNA	NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	31					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|defense response (GO:0006952)|defense response to virus (GO:0051607)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|regulation of cell proliferation (GO:0042127)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|cytokine activity (GO:0005125)	p.C31*(2)		large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGATGCAGGAACAGCGACCCT	0.428																																							uc003hjh.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(91-93)TGT>TGA		small inducible cytokine B9 precursor							218.0	205.0	210.0					4																	76927399		2203	4300	6503	SO:0001587	stop_gained	4283				cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity	g.chr4:76927399A>T	X72755	CCDS34014.1	4q21	2013-02-25	2002-08-22	2002-08-23		ENSG00000138755		"""Endogenous ligands"""	7098	protein-coding gene	gene with protein product		601704	"""monokine induced by gamma interferon"""	CMK, MIG		8476424, 9730616	Standard	NM_002416		Approved	SCYB9, Humig, crg-10	uc003hjh.1	Q07325		ENST00000264888.5:c.93T>A	4.37:g.76927399A>T	ENSP00000354901:p.Cys31*						p.C31*	NM_002416	NP_002407	Q07325	CXCL9_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		2	132	-			31					Q503B4	Nonsense_Mutation	SNP	ENST00000264888.5	37	c.93T>A	CCDS34014.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.843409	0.32606	.	.	ENSG00000138755	ENST00000264888	.	.	.	5.18	2.76	0.32466	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.6841	6.0694	0.19881	0.7739:0.0:0.2261:0.0	.	.	.	.	X	31	.	ENSP00000354901:C31X	C	-	3	2	CXCL9	77146423	0.999000	0.42202	0.975000	0.42487	0.026000	0.11368	0.831000	0.27476	0.393000	0.25203	0.379000	0.24179	TGT		0.428	CXCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362819.1			81	161	0	0	0	0.01441	0	81	161				
DSPP	1834	broad.mit.edu	37	4	88534203	88534203	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:88534203G>T	ENST00000282478.7	+	3	898	c.865G>T	c.(865-867)Gat>Tat	p.D289Y	DSPP_ENST00000399271.1_Missense_Mutation_p.D289Y|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	289					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.D289Y(2)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		TGGGAAAGAAGATGATCATGA	0.428																																							uc003hqu.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(865-867)GAT>TAT		dentin sialophosphoprotein preproprotein							112.0	119.0	117.0					4																	88534203		1982	4140	6122	SO:0001583	missense	1834				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	g.chr4:88534203G>T	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.865G>T	4.37:g.88534203G>T	ENSP00000282478:p.Asp289Tyr						p.D289Y	NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000508)	4	985	+		Hepatocellular(203;0.114)|all_hematologic(202;0.236)	289					A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	c.865G>T	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	G	9.127	1.010351	0.19277	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.88201	-2.35;-2.35	4.59	2.73	0.32206	.	.	.	.	.	T	0.78935	0.4362	L	0.38175	1.15	0.09310	N	1	P	0.36712	0.566	B	0.27076	0.076	T	0.71741	-0.4501	9	0.72032	D	0.01	-0.009	3.6235	0.08104	0.2121:0.0:0.5904:0.1975	.	289	Q9NZW4	DSPP_HUMAN	Y	289	ENSP00000382213:D289Y;ENSP00000282478:D289Y	ENSP00000282478:D289Y	D	+	1	0	DSPP	88753227	0.141000	0.22595	0.002000	0.10522	0.018000	0.09664	2.388000	0.44398	1.131000	0.42111	0.557000	0.71058	GAT		0.428	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		17	52	1	0	6.94344e-10	0.006122	7.97022e-10	17	52				
CCSER1	401145	broad.mit.edu	37	4	91230336	91230336	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:91230336G>T	ENST00000509176.1	+	2	1189	c.901G>T	c.(901-903)Gct>Tct	p.A301S	CCSER1_ENST00000432775.2_Missense_Mutation_p.A301S|CCSER1_ENST00000333691.8_Missense_Mutation_p.A301S	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	301								p.A301S(4)									CCTCAATTCTGCTGCTGTTAC	0.433																																							uc003hsv.3		NA																	4	Substitution - Missense(4)		lung(4)	large_intestine(1)|ovary(1)	2						c.(901-903)GCT>TCT		KIAA1680 protein isoform 1							204.0	195.0	198.0					4																	91230336		1930	4134	6064	SO:0001583	missense	401145							g.chr4:91230336G>T		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.901G>T	4.37:g.91230336G>T	ENSP00000425040:p.Ala301Ser					FAM190A_uc003hsu.3_Missense_Mutation_p.A301S|FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.A301S	p.A301S	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN			2	1241	+			301					Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	c.901G>T	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247158	0.39697	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.47528	1.41;0.84;1.41	4.94	4.08	0.47627	.	0.292669	0.31601	N	0.007364	T	0.42966	0.1226	L	0.27053	0.805	0.26696	N	0.971252	B;P;P	0.51351	0.112;0.944;0.944	B;B;P	0.50825	0.037;0.359;0.651	T	0.27262	-1.0079	10	0.25751	T	0.34	-12.5954	13.1449	0.59456	0.0796:0.0:0.9204:0.0	.	301;301;301	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	S	301	ENSP00000425040:A301S;ENSP00000389283:A301S;ENSP00000329482:A301S	ENSP00000329482:A301S	A	+	1	0	FAM190A	91449359	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.861000	0.56002	1.374000	0.46228	0.655000	0.94253	GCT		0.433	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		66	181	1	0	4.46356e-37	0.01441	6.1286e-37	66	181				
EMCN	51705	broad.mit.edu	37	4	101344211	101344211	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:101344211C>T	ENST00000296420.4	-	7	713	c.535G>A	c.(535-537)Gca>Aca	p.A179T	EMCN_ENST00000511970.1_Missense_Mutation_p.A166T|EMCN_ENST00000305864.3_Intron	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	179						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A179T(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		GAAGTGCTTGCATTTTTTCCA	0.418																																							uc003hvr.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(535-537)GCA>ACA		endomucin isoform 1							137.0	131.0	133.0					4																	101344211		2203	4300	6503	SO:0001583	missense	51705					extracellular region|integral to membrane|plasma membrane		g.chr4:101344211C>T	AF205940	CCDS3655.1, CCDS54782.1	4q22.1	2008-02-05			ENSG00000164035	ENSG00000164035		"""Mucins"""	16041	protein-coding gene	gene with protein product		608350				11418125, 11594763	Standard	NM_016242		Approved	MUC14	uc003hvr.3	Q9ULC0	OTTHUMG00000131051	ENST00000296420.4:c.535G>A	4.37:g.101344211C>T	ENSP00000296420:p.Ala179Thr					EMCN_uc011cel.1_Missense_Mutation_p.A166T|EMCN_uc011cem.1_Intron	p.A179T	NM_016242	NP_057326	Q9ULC0	MUCEN_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)	7	714	-			179			Extracellular (Potential).		A8K716|B4E347|Q8NEY5|Q8WWE7|Q9NRM8	Missense_Mutation	SNP	ENST00000296420.4	37	c.535G>A	CCDS3655.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244323	0.39697	.	.	ENSG00000164035	ENST00000296420;ENST00000511970	.	.	.	4.7	-0.0208	0.13954	.	0.782790	0.10462	N	0.671824	T	0.14056	0.0340	N	0.11560	0.145	0.09310	N	1	P;P	0.43542	0.81;0.594	B;B	0.39562	0.303;0.303	T	0.17561	-1.0365	9	0.24483	T	0.36	-15.7632	6.6512	0.22963	0.0:0.4451:0.0:0.5549	.	166;179	B4E347;Q9ULC0	.;MUCEN_HUMAN	T	179;166	.	ENSP00000296420:A179T	A	-	1	0	EMCN	101563234	0.000000	0.05858	0.003000	0.11579	0.176000	0.22953	-1.124000	0.03260	0.110000	0.17919	0.484000	0.47621	GCA		0.418	EMCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253699.2	NM_016242		17	53	0	0	0	0.006122	0	17	53				
EEF1A1P9	441032	broad.mit.edu	37	4	106406218	106406218	+	IGR	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:106406218G>A								PPA2 (10980 upstream) : AC004066.3 (55128 downstream)																							TGGTGAATTTGAAGCTGGTAT	0.468																																							uc003hxt.1		NA																	0					0						c.(226-228)GAA>AAA		SubName: Full=Eukaryotic translation elongation factor 1 alpha; Flags: Fragment;																																				SO:0001628	intergenic_variant	441032							g.chr4:106406218G>A																													4.37:g.106406218G>A							p.E76K	NR_003586						1	356	+									Missense_Mutation	SNP		37	c.226G>A																																																																																				0	0.468									14	28	0	0	0	0.020292	0	14	28				
DKK2	27123	broad.mit.edu	37	4	107845748	107845748	+	Silent	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:107845748T>A	ENST00000285311.3	-	3	1188	c.483A>T	c.(481-483)ggA>ggT	p.G161G	DKK2_ENST00000510463.1_Silent_p.G115G|DKK2_ENST00000513208.1_Silent_p.G61G	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	161					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)		p.G161G(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GATTCTGCCATCCCAAGTCAT	0.418																																							uc003hyi.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(1)|skin(1)	5						c.(481-483)GGA>GGT		dickkopf homolog 2 precursor							216.0	193.0	201.0					4																	107845748		2203	4300	6503	SO:0001819	synonymous_variant	27123				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		g.chr4:107845748T>A	AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"""dickkopf (Xenopus laevis) homolog 2"", ""dickkopf 2 homolog (Xenopus laevis)"""			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.483A>T	4.37:g.107845748T>A						DKK2_uc010ilw.1_RNA|DKK2_uc003hyj.1_Silent_p.G161G	p.G161G	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)	3	1188	-		Hepatocellular(203;0.217)	161					A0AVE9|B2R6S7|Q9UIU3	Silent	SNP	ENST00000285311.3	37	c.483A>T	CCDS3675.1																																																																																				0.418	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4			45	148	0	0	0	0.013114	0	45	148				
LEF1	51176	broad.mit.edu	37	4	109088767	109088767	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:109088767T>C	ENST00000265165.1	-	1	811	c.157A>G	c.(157-159)Atc>Gtc	p.I53V	LEF1_ENST00000379951.2_Missense_Mutation_p.I53V|LEF1_ENST00000510624.1_5'Flank|LEF1-AS1_ENST00000436413.1_RNA|LEF1_ENST00000438313.2_Missense_Mutation_p.I53V|LEF1_ENST00000512172.1_5'Flank	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	53	CTNNB1-binding. {ECO:0000250}.				alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|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 proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II 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 regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.I53V(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		GAAGACTTGATGTCAGCTAAA	0.587																																							uc003hyt.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(157-159)ATC>GTC		lymphoid enhancer-binding factor 1 isoform 1							164.0	152.0	156.0					4																	109088767		2203	4300	6503	SO:0001583	missense	51176				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr4:109088767T>C		CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.157A>G	4.37:g.109088767T>C	ENSP00000265165:p.Ile53Val					LEF1_uc011cfj.1_5'Flank|LEF1_uc011cfk.1_5'Flank|LEF1_uc003hyu.1_Missense_Mutation_p.I53V|LEF1_uc003hyv.1_Missense_Mutation_p.I53V|LEF1_uc010imb.1_RNA	p.I53V	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000224)	1	812	-			53			CTNNB1-binding (By similarity).		B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Missense_Mutation	SNP	ENST00000265165.1	37	c.157A>G	CCDS3679.1	.	.	.	.	.	.	.	.	.	.	T	10.04	1.241606	0.22711	.	.	ENSG00000138795	ENST00000265165;ENST00000379951;ENST00000438313	D;D;D	0.98849	-5.16;-5.17;-5.18	4.91	3.7	0.42460	CTNNB1 binding, N-teminal (1);	0.000000	0.85682	D	0.000000	D	0.96386	0.8821	N	0.12569	0.235	0.51482	D	0.999929	P;B;B	0.38863	0.65;0.144;0.032	P;B;B	0.54140	0.743;0.063;0.124	D	0.92922	0.6356	10	0.05959	T	0.93	-10.2519	10.9002	0.47047	0.141:0.0:0.0:0.859	.	53;53;53	Q9UJU2-6;Q9UJU2-5;Q9UJU2	.;.;LEF1_HUMAN	V	53	ENSP00000265165:I53V;ENSP00000369284:I53V;ENSP00000406176:I53V	ENSP00000265165:I53V	I	-	1	0	LEF1	109308216	1.000000	0.71417	1.000000	0.80357	0.400000	0.30750	7.210000	0.77924	0.691000	0.31592	-0.468000	0.05107	ATC		0.587	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2			36	143	0	0	0	0.021022	0	36	143				
ENPEP	2028	broad.mit.edu	37	4	111436540	111436540	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:111436540C>T	ENST00000265162.5	+	8	1793	c.1451C>T	c.(1450-1452)tCt>tTt	p.S484F	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	484					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S484F(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		TAGGGATCTTCTATTTTGAGA	0.299																																							uc003iab.3		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)|breast(1)	5						c.(1450-1452)TCT>TTT		glutamyl aminopeptidase	L-Glutamic Acid(DB00142)						95.0	99.0	98.0					4																	111436540		2203	4297	6500	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111436540C>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1451C>T	4.37:g.111436540C>T	ENSP00000265162:p.Ser484Phe						p.S484F	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	8	1793	+		Hepatocellular(203;0.217)	484			Extracellular (Potential).		Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.1451C>T	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477185	0.84640	.	.	ENSG00000138792	ENST00000265162	T	0.05447	3.44	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.37461	0.1004	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.49263	-0.8958	10	0.66056	D	0.02	.	19.5811	0.95468	0.0:1.0:0.0:0.0	.	484	Q07075	AMPE_HUMAN	F	484	ENSP00000265162:S484F	ENSP00000265162:S484F	S	+	2	0	ENPEP	111655989	1.000000	0.71417	0.998000	0.56505	0.794000	0.44872	7.470000	0.80973	2.643000	0.89663	0.650000	0.86243	TCT		0.299	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			20	53	0	0	0	0.00632	0	20	53				
ZGRF1	55345	broad.mit.edu	37	4	113461166	113461166	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:113461166C>T	ENST00000505019.1	-	27	6150	c.6025G>A	c.(6025-6027)Gta>Ata	p.V2009I	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		2009						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.V2009I(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTTGTCCTTACACAGGACAGA	0.403																																							uc003iau.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(6025-6027)GTA>ATA		prematurely terminated mRNA decay factor-like							97.0	87.0	91.0					4																	113461166		2203	4299	6502	SO:0001583	missense	55345					integral to membrane	zinc ion binding	g.chr4:113461166C>T																												ENST00000505019.1:c.6025G>A	4.37:g.113461166C>T	ENSP00000424737:p.Val2009Ile					C4orf21_uc003iav.2_RNA|C4orf21_uc003iat.2_Missense_Mutation_p.V467I	p.V2009I	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	27	6236	-		Ovarian(17;0.156)	831					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.6025G>A		.	.	.	.	.	.	.	.	.	.	C	27.5	4.833301	0.91036	.	.	ENSG00000138658	ENST00000505019	D	0.96651	-4.08	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000003	D	0.98963	0.9647	H	0.97896	4.1	0.80722	D	1	P;D	0.76494	0.824;0.999	P;D	0.74674	0.554;0.984	D	0.99278	1.0895	10	0.87932	D	0	-14.1949	19.3603	0.94434	0.0:1.0:0.0:0.0	.	2009;467	G5EA02;B3KQX2	.;.	I	2009	ENSP00000424737:V2009I	ENSP00000424737:V2009I	V	-	1	0	C4orf21	113680615	1.000000	0.71417	0.736000	0.30914	0.973000	0.67179	5.269000	0.65542	2.652000	0.90054	0.561000	0.74099	GTA		0.403	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			5	32	0	0	0	0.014758	0	5	32				
NDST4	64579	broad.mit.edu	37	4	115997379	115997379	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:115997379C>T	ENST00000264363.2	-	2	1492	c.814G>A	c.(814-816)Ggc>Agc	p.G272S		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	272	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.G272S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AAGTTGTTGCCAAAAAGTACT	0.448																																							uc003ibu.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(814-816)GGC>AGC		heparan sulfate N-deacetylase/N-sulfotransferase							188.0	172.0	177.0					4																	115997379		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115997379C>T	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.814G>A	4.37:g.115997379C>T	ENSP00000264363:p.Gly272Ser					NDST4_uc010imw.2_Intron	p.G272S	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	2	1493	-		Ovarian(17;0.156)	272			Lumenal (Potential).|Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.814G>A	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935145	0.92458	.	.	ENSG00000138653	ENST00000264363	T	0.55052	0.54	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.78207	0.4247	M	0.92026	3.265	0.80722	D	1	P	0.50617	0.937	P	0.61533	0.89	T	0.82649	-0.0353	10	0.72032	D	0.01	.	19.5505	0.95315	0.0:1.0:0.0:0.0	.	272	Q9H3R1	NDST4_HUMAN	S	272	ENSP00000264363:G272S	ENSP00000264363:G272S	G	-	1	0	NDST4	116216828	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.770000	0.85390	2.610000	0.88304	0.591000	0.81541	GGC		0.448	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		40	139	0	0	0	0.00623	0	40	139				
KIAA1109	84162	broad.mit.edu	37	4	123165092	123165092	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:123165092C>T	ENST00000264501.4	+	31	5199	c.4826C>T	c.(4825-4827)cCa>cTa	p.P1609L	KIAA1109_ENST00000455637.1_Missense_Mutation_p.P1609L|KIAA1109_ENST00000388738.3_Missense_Mutation_p.P1609L			Q2LD37	K1109_HUMAN	KIAA1109	1609					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.P1609L(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTGGATCAACCAGTGTCCCAG	0.408																																							uc003ieh.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(4825-4827)CCA>CTA		fragile site-associated protein							126.0	118.0	121.0					4																	123165092		1878	4097	5975	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123165092C>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.4826C>T	4.37:g.123165092C>T	ENSP00000264501:p.Pro1609Leu					KIAA1109_uc003iek.2_Missense_Mutation_p.P228L	p.P1609L	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			29	4871	+			1609					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.4826C>T	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.312326|4.312326	0.81358|0.81358	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000446180	T;T;T|.	0.22336|.	2.55;2.55;1.96|.	5.56|5.56	4.71|4.71	0.59529|0.59529	.|.	0.000000|.	0.44483|.	U|.	0.000445|.	T|.	0.49338|.	0.1551|.	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	B;B|.	0.14012|.	0.008;0.009|.	B;B|.	0.14578|.	0.011;0.005|.	T|.	0.43097|.	-0.9412|.	10|.	0.48119|.	T|.	0.1|.	.|.	14.1656|14.1656	0.65475|0.65475	0.0:0.9278:0.0:0.0722|0.0:0.9278:0.0:0.0722	.|.	1608;1609|.	Q2LD37-2;Q2LD37|.	.;K1109_HUMAN|.	L|X	1609|182	ENSP00000264501:P1609L;ENSP00000373390:P1609L;ENSP00000389925:P1609L|.	ENSP00000264501:P1609L|.	P|Q	+|+	2|1	0|0	KIAA1109|KIAA1109	123384542|123384542	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.995000|0.995000	0.86356|0.86356	5.677000|5.677000	0.68142|0.68142	1.340000|1.340000	0.45581|0.45581	0.563000|0.563000	0.77884|0.77884	CCA|CAG		0.408	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		14	91	0	0	0	0.016723	0	14	91				
MFSD8	256471	broad.mit.edu	37	4	128842683	128842683	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:128842683G>A	ENST00000296468.3	-	12	1473	c.1346C>T	c.(1345-1347)cCt>cTt	p.P449L	MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Missense_Mutation_p.P404L	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	449					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)		p.P449L(2)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						GCTTACCTGAGGTTTTGGTCC	0.378																																							uc003ifp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|liver(1)	2						c.(1345-1347)CCT>CTT		major facilitator superfamily domain containing							58.0	64.0	62.0					4																	128842683		2203	4300	6503	SO:0001583	missense	256471				cell death|transmembrane transport	integral to membrane|lysosomal membrane		g.chr4:128842683G>A	AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.1346C>T	4.37:g.128842683G>A	ENSP00000296468:p.Pro449Leu					MFSD8_uc011cgu.1_Missense_Mutation_p.P404L|MFSD8_uc011cgv.1_3'UTR	p.P449L	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN			12	1509	-			449			Cytoplasmic (Potential).		B2RDM1|B7Z205|Q8N2P3	Missense_Mutation	SNP	ENST00000296468.3	37	c.1346C>T	CCDS3736.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759858	0.89932	.	.	ENSG00000164073	ENST00000296468;ENST00000513559	T;T	0.74842	-0.88;-0.88	5.17	5.17	0.71159	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.055881	0.64402	D	0.000001	D	0.85349	0.5676	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84942	0.0866	10	0.48119	T	0.1	-15.7325	18.8508	0.92227	0.0:0.0:1.0:0.0	.	449	Q8NHS3	MFSD8_HUMAN	L	449;404	ENSP00000296468:P449L;ENSP00000425000:P404L	ENSP00000296468:P449L	P	-	2	0	MFSD8	129062133	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	8.597000	0.90847	2.687000	0.91594	0.561000	0.74099	CCT		0.378	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1	NM_152778		33	62	0	0	0	0.013726	0	33	62				
PRMT9	90826	broad.mit.edu	37	4	148559746	148559746	+	Silent	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:148559746T>C	ENST00000322396.6	-	12	2717	c.2475A>G	c.(2473-2475)ggA>ggG	p.G825G	PRMT10_ENST00000541232.1_Silent_p.G712G|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		825	SAM-dependent MTase PRMT-type 2. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)	p.G825G(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						CAAGTTCCTCTCCCATTTCAA	0.408																																							uc003ilc.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(2473-2475)GGA>GGG		protein arginine methyltransferase 10							205.0	183.0	190.0					4																	148559746		2203	4300	6503	SO:0001819	synonymous_variant	90826					cytoplasm	binding|protein methyltransferase activity	g.chr4:148559746T>C																												ENST00000322396.6:c.2475A>G	4.37:g.148559746T>C						PRMT10_uc003ilb.2_Silent_p.G469G|PRMT10_uc003ild.2_Silent_p.G712G	p.G825G	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN			12	2617	-			825					A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Silent	SNP	ENST00000322396.6	37	c.2475A>G	CCDS3771.1																																																																																				0.408	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1			36	152	0	0	0	0.021022	0	36	152				
LRBA	987	broad.mit.edu	37	4	151765810	151765810	+	Splice_Site	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:151765810C>G	ENST00000357115.3	-	27	4704	c.4461G>C	c.(4459-4461)aaG>aaC	p.K1487N	LRBA_ENST00000507224.1_Splice_Site_p.K1487N|LRBA_ENST00000510413.1_Splice_Site_p.K1487N|LRBA_ENST00000535741.1_Splice_Site_p.K1487N	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1487						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.K1487N(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GTATACTTACCTTCGCTGCAG	0.323																																							uc010ipj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(3)|skin(1)	7						c.(4459-4461)AAG>AAC		LPS-responsive vesicle trafficking, beach and							103.0	95.0	98.0					4																	151765810		2203	4300	6503	SO:0001630	splice_region_variant	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151765810C>G	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.4461+1G>C	4.37:g.151765810C>G						LRBA_uc003ilt.3_Missense_Mutation_p.K146N|LRBA_uc003ilu.3_Missense_Mutation_p.K1487N	p.K1487N	NM_006726	NP_006717	P50851	LRBA_HUMAN			27	4935	-	all_hematologic(180;0.151)		1487					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.4461G>C	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.992070|3.992070	0.74703|0.74703	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224;ENST00000502839|ENST00000509835	T;T;T;T|.	0.60171|.	0.62;0.77;0.62;0.21|.	5.19|5.19	4.35|4.35	0.52113|0.52113	.|.	0.428104|.	0.25628|.	N|.	0.029363|.	T|T	0.74084|0.74084	0.3670|0.3670	M|M	0.77103|0.77103	2.36|2.36	0.53005|0.53005	D|D	0.999966|0.999966	D;P|.	0.76494|.	0.999;0.763|.	D;B|.	0.78314|.	0.991;0.288|.	T|T	0.75462|0.75462	-0.3309|-0.3309	9|5	.|.	.|.	.|.	.|.	13.9036|13.9036	0.63821|0.63821	0.0:0.9263:0.0:0.0737|0.0:0.9263:0.0:0.0737	.|.	1487;1487|.	P50851;P50851-2|.	LRBA_HUMAN;.|.	N|T	1487;1487;1487;1487;64|140	ENSP00000446299:K1487N;ENSP00000421552:K1487N;ENSP00000349629:K1487N;ENSP00000422180:K1487N|.	.|.	K|R	-|-	3|2	2|0	LRBA|LRBA	151985260|151985260	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.944000|0.944000	0.59088|0.59088	4.470000|4.470000	0.60175|0.60175	1.321000|1.321000	0.45227|0.45227	0.650000|0.650000	0.86243|0.86243	AAG|AGA		0.323	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1		Missense_Mutation	21	45	0	0	0	0.01892	0	21	45				
MARCH1	55016	broad.mit.edu	37	4	165118750	165118750	+	Intron	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:165118750T>A	ENST00000503008.1	-	2	864				MARCH1_ENST00000508725.1_Intron|MARCH1_ENST00000514618.1_Intron	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase						antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T38T(2)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CAAATTCATCTGTGAGGGCTT	0.458																																							uc011cjk.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(112-114)ACA>ACT		acidic nuclear phosphoprotein 32C							135.0	136.0	136.0					4																	165118750		2203	4300	6503	SO:0001627	intron_variant	23520							g.chr4:165118750T>A	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.113-85936A>T	4.37:g.165118750T>A						MARCH1_uc003iqs.1_Intron	p.T38T	NM_012403	NP_036535	O43423	AN32C_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.242)	1	114	-	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)	38					D3DP29|Q9NWR0	Silent	SNP	ENST00000503008.1	37	c.114A>T	CCDS54814.1																																																																																				0.458	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		52	223	0	0	0	0.01441	0	52	223				
DDX60L	91351	broad.mit.edu	37	4	169348279	169348279	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:169348279A>T	ENST00000511577.1	-	14	2119	c.1872T>A	c.(1870-1872)gtT>gtA	p.V624V	DDX60L_ENST00000505890.1_Silent_p.V624V|DDX60L_ENST00000260184.7_Silent_p.V624V			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	624							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.V624V(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CTAACATTTCAACTCCAAATT	0.343																																							uc003irq.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1870-1872)GTT>GTA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							90.0	78.0	82.0					4																	169348279		1854	4102	5956	SO:0001819	synonymous_variant	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169348279A>T	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.1872T>A	4.37:g.169348279A>T						DDX60L_uc003irr.1_Silent_p.V624V|DDX60L_uc003irs.1_Silent_p.V351V	p.V624V	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	14	2093	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	624					Q96ND6	Silent	SNP	ENST00000511577.1	37	c.1872T>A																																																																																					0.343	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		8	14	0	0	0	0.00308	0	8	14				
FAT1	2195	broad.mit.edu	37	4	187541804	187541804	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:187541804A>C	ENST00000441802.2	-	10	6145	c.5936T>G	c.(5935-5937)tTt>tGt	p.F1979C		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1979	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F1979C(2)|p.F1982C(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATCCTGGGTAAACTTTAGGTG	0.453										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(5935-5937)TTT>TGT		FAT tumor suppressor 1 precursor							197.0	197.0	197.0					4																	187541804		1856	4090	5946	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187541804A>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.5936T>G	4.37:g.187541804A>C	ENSP00000406229:p.Phe1979Cys	HNSCC(5;0.00058)					p.F1979C	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	6124	-			1979			Extracellular (Potential).|Cadherin 17.			Missense_Mutation	SNP	ENST00000441802.2	37	c.5936T>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	A	14.60	2.585244	0.46110	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.01787	4.64	5.26	5.26	0.73747	Cadherin (2);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.19208	0.0461	H	0.97587	4.035	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.21861	-1.0233	10	0.59425	D	0.04	.	15.3348	0.74244	1.0:0.0:0.0:0.0	.	1979	Q14517	FAT1_HUMAN	C	1979;1981	ENSP00000406229:F1979C	ENSP00000260147:F1981C	F	-	2	0	FAT1	187778798	1.000000	0.71417	0.994000	0.49952	0.251000	0.25915	9.139000	0.94554	2.212000	0.71576	0.459000	0.35465	TTT		0.453	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		83	267	0	0	0	0.01441	0	83	267				
TRIML2	205860	broad.mit.edu	37	4	189022242	189022242	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:189022242C>T	ENST00000512729.1	-	3	672	c.298G>A	c.(298-300)Gag>Aag	p.E100K	TRIML2_ENST00000536972.1_Missense_Mutation_p.E150K|TRIML2_ENST00000326754.3_Missense_Mutation_p.E100K	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	100					protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)	p.E100K(2)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|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)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TCCTCTAGCTCGGTGGCAAGC	0.413																																							uc003izl.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)	2						c.(298-300)GAG>AAG		tripartite motif family-like 2							117.0	110.0	112.0					4																	189022242		2203	4300	6503	SO:0001583	missense	205860						ligase activity	g.chr4:189022242C>T	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.298G>A	4.37:g.189022242C>T	ENSP00000422581:p.Glu100Lys					TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc011cle.1_Missense_Mutation_p.E150K|TRIML2_uc011clf.1_Missense_Mutation_p.E150K	p.E100K	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	3	334	-		all_cancers(14;3.11e-44)|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)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	100			Potential.		B7Z6J6	Missense_Mutation	SNP	ENST00000512729.1	37	c.298G>A	CCDS3850.1	.	.	.	.	.	.	.	.	.	.	C	6.100	0.386636	0.11524	.	.	ENSG00000179046	ENST00000512729;ENST00000326754;ENST00000536972	T;T;T	0.60040	3.59;0.22;3.7	5.08	3.24	0.37175	.	0.156418	0.30068	N	0.010492	T	0.36248	0.0960	L	0.40543	1.245	0.09310	N	1	P;P;P	0.42456	0.706;0.78;0.58	B;B;B	0.28991	0.097;0.097;0.038	T	0.18178	-1.0345	10	0.16420	T	0.52	.	8.0035	0.30310	0.0:0.7941:0.0:0.2059	.	150;100;100	B7Z6J6;B7ZLC3;Q8N7C3	.;.;TRIMM_HUMAN	K	100;100;150	ENSP00000422581:E100K;ENSP00000317498:E100K;ENSP00000441236:E150K	ENSP00000317498:E100K	E	-	1	0	TRIML2	189259236	0.004000	0.15560	0.003000	0.11579	0.007000	0.05969	0.160000	0.16462	0.719000	0.32188	0.655000	0.94253	GAG		0.413	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		16	63	0	0	0	0.00499	0	16	63				
IRX1	79192	broad.mit.edu	37	5	3600327	3600327	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:3600327C>T	ENST00000302006.3	+	2	1317	c.1265C>T	c.(1264-1266)gCa>gTa	p.A422V	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	422					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.A422V(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GCCCCGGGGGCACTCAATGGA	0.706																																							uc003jde.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1264-1266)GCA>GTA		iroquois homeobox protein 1							17.0	21.0	20.0					5																	3600327		2202	4297	6499	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3600327C>T	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1265C>T	5.37:g.3600327C>T	ENSP00000305244:p.Ala422Val						p.A422V	NM_024337	NP_077313	P78414	IRX1_HUMAN			2	1317	+			422					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.1265C>T	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	C	6.733	0.504003	0.12822	.	.	ENSG00000170549	ENST00000302006	T	0.58210	0.35	4.39	0.164	0.14990	.	1.368040	0.05061	N	0.479839	T	0.41190	0.1148	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17198	-1.0377	10	0.22706	T	0.39	.	6.0303	0.19677	0.0:0.6325:0.1401:0.2273	.	422	P78414	IRX1_HUMAN	V	422	ENSP00000305244:A422V	ENSP00000305244:A422V	A	+	2	0	IRX1	3653327	0.949000	0.32298	0.000000	0.03702	0.003000	0.03518	2.370000	0.44240	-0.012000	0.14223	0.467000	0.42956	GCA		0.706	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		9	19	0	0	0	0.005443	0	9	19				
ADAMTS16	170690	broad.mit.edu	37	5	5190105	5190105	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:5190105C>T	ENST00000274181.7	+	7	1207	c.1069C>T	c.(1069-1071)Cac>Tac	p.H357Y	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.H357Y	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	357	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.H357Y(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						GATAAGTCACCACGCAGACCA	0.488																																							uc003jdl.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(1069-1071)CAC>TAC		ADAM metallopeptidase with thrombospondin type 1							119.0	116.0	117.0					5																	5190105		2063	4210	6273	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5190105C>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.1069C>T	5.37:g.5190105C>T	ENSP00000274181:p.His357Tyr					ADAMTS16_uc003jdk.1_Missense_Mutation_p.H357Y|ADAMTS16_uc003jdj.1_Missense_Mutation_p.H357Y	p.H357Y	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			7	1207	+			357			Peptidase M12B.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.1069C>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765506	0.69878	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	D;D	0.86562	-2.14;-2.14	5.37	5.37	0.77165	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.92835	0.7721	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.991;0.992	D	0.93338	0.6707	10	0.72032	D	0.01	.	17.9034	0.88911	0.0:1.0:0.0:0.0	.	357;357;357	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	Y	357	ENSP00000274181:H357Y;ENSP00000421631:H357Y	ENSP00000274181:H357Y	H	+	1	0	ADAMTS16	5243105	1.000000	0.71417	0.918000	0.36340	0.217000	0.24651	7.324000	0.79115	2.510000	0.84645	0.650000	0.86243	CAC		0.488	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		87	146	0	0	0	0.01441	0	87	146				
ADCY2	108	broad.mit.edu	37	5	7690926	7690926	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:7690926G>T	ENST00000338316.4	+	5	932	c.843G>T	c.(841-843)ctG>ctT	p.L281L	ADCY2_ENST00000513693.1_3'UTR|ADCY2_ENST00000537121.1_Silent_p.L101L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	281					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)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.L281L(2)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TCCACAACCTGTATGTGAAGC	0.557																																							uc003jdz.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(5)|pancreas(1)|skin(1)	7						c.(841-843)CTG>CTT		adenylate cyclase 2							148.0	130.0	136.0					5																	7690926		2203	4300	6503	SO:0001819	synonymous_variant	108				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|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7690926G>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.843G>T	5.37:g.7690926G>T						ADCY2_uc011cmo.1_Silent_p.L101L	p.L281L	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			5	910	+			281			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.843G>T	CCDS3872.2																																																																																				0.557	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		27	83	1	0	1.17739e-12	0.005443	1.40928e-12	27	83				
ADCY2	108	broad.mit.edu	37	5	7727285	7727285	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:7727285C>T	ENST00000338316.4	+	14	1871	c.1782C>T	c.(1780-1782)gcC>gcT	p.A594A	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Silent_p.A414A	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	594					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)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.A594A(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AGTACCGGGCCACGGCACTGC	0.507																																							uc003jdz.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(1)|skin(1)	7						c.(1780-1782)GCC>GCT		adenylate cyclase 2							161.0	140.0	147.0					5																	7727285		2203	4300	6503	SO:0001819	synonymous_variant	108				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|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7727285C>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1782C>T	5.37:g.7727285C>T						ADCY2_uc011cmo.1_Silent_p.A414A	p.A594A	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			14	1849	+			594			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.1782C>T	CCDS3872.2																																																																																				0.507	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		9	224	0	0	0	0.004482	0	9	224				
BASP1	10409	broad.mit.edu	37	5	17275998	17275998	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:17275998G>A	ENST00000322611.3	+	2	933	c.673G>A	c.(673-675)Gtg>Atg	p.V225M		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	225					diaphragm development (GO:0060539)|glomerular visceral epithelial cell differentiation (GO:0072112)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchyme development (GO:0072075)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of heart growth (GO:0060421)|positive regulation of metanephric ureteric bud development (GO:2001076)|substantia nigra development (GO:0021762)|thorax and anterior abdomen determination (GO:0007356)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.V225M(2)		endometrium(1)|lung(8)	9						AACCGTAACCGTGAAAGAGTG	0.537																																							uc003jfx.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(673-675)GTG>ATG		brain abundant, membrane attached signal protein							17.0	22.0	20.0					5																	17275998		2183	4285	6468	SO:0001583	missense	10409				glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr5:17275998G>A	AF039656	CCDS3888.1	5p15.1	2010-12-03			ENSG00000176788	ENSG00000176788			957	protein-coding gene	gene with protein product		605940				9310187, 9749536	Standard	NM_001271606		Approved	NAP-22, NAP22, CAP23, CAP-23	uc031siz.1	P80723	OTTHUMG00000131061	ENST00000322611.3:c.673G>A	5.37:g.17275998G>A	ENSP00000319281:p.Val225Met						p.V225M	NM_006317	NP_006308	P80723	BASP1_HUMAN			2	852	+			225					B4DJA8|D3DTD5|O43596|Q5U0S0|Q9BWA5	Missense_Mutation	SNP	ENST00000322611.3	37	c.673G>A	CCDS3888.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100761	0.56183	.	.	ENSG00000176788	ENST00000322611;ENST00000447228	T	0.60424	0.19	5.06	5.06	0.68205	.	0.000000	0.48286	D	0.000199	T	0.70613	0.3244	L	0.50333	1.59	0.50813	D	0.999893	D	0.76494	0.999	D	0.67231	0.95	T	0.73946	-0.3822	10	0.87932	D	0	-11.8999	17.0251	0.86443	0.0:0.0:1.0:0.0	.	225	P80723	BASP1_HUMAN	M	225;171	ENSP00000319281:V225M	ENSP00000319281:V225M	V	+	1	0	BASP1	17328998	1.000000	0.71417	0.103000	0.21229	0.771000	0.43674	6.088000	0.71371	2.345000	0.79718	0.591000	0.81541	GTG		0.537	BASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253716.2			12	62	0	0	0	0.003163	0	12	62				
RXFP3	51289	broad.mit.edu	37	5	33937437	33937437	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:33937437C>A	ENST00000330120.3	+	1	947	c.592C>A	c.(592-594)Cgg>Agg	p.R198R		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	198					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)	p.R198R(2)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						AGGACACGGCCGGGGCGACTG	0.672																																							uc003jic.1		NA																	2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(592-594)CGG>AGG		relaxin/insulin-like family peptide receptor 3							36.0	39.0	38.0					5																	33937437		2202	4298	6500	SO:0001819	synonymous_variant	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937437C>A	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.592C>A	5.37:g.33937437C>A							p.R198R	NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN			1	949	+			198			Cytoplasmic (Potential).		Q14DA5	Silent	SNP	ENST00000330120.3	37	c.592C>A	CCDS3900.1																																																																																				0.672	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		42	64	1	0	2.61675e-31	0.013114	3.53104e-31	42	64				
HMGCS1	3157	broad.mit.edu	37	5	43297159	43297159	+	Silent	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:43297159T>C	ENST00000325110.6	-	5	890	c.684A>G	c.(682-684)gcA>gcG	p.A228A	HMGCS1_ENST00000433297.2_Silent_p.A228A	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	228					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|lipid metabolic process (GO:0006629)|liver development (GO:0001889)|male gonad development (GO:0008584)|response to acid chemical (GO:0001101)|response to drug (GO:0042493)|response to lipoprotein particle (GO:0055094)|response to low light intensity stimulus (GO:0009645)|response to purine-containing compound (GO:0014074)|response to tellurium ion (GO:0046690)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hydroxymethylglutaryl-CoA synthase activity (GO:0004421)|isomerase activity (GO:0016853)|organic acid binding (GO:0043177)	p.A228A(2)		NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						AGCGGTCTAATGCACTGAGGT	0.413																																							uc003jnr.3		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(682-684)GCA>GCG		hydroxymethylglutaryl-CoA synthase 1							163.0	160.0	161.0					5																	43297159		2203	4300	6503	SO:0001819	synonymous_variant	3157				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity	g.chr5:43297159T>C		CCDS34154.1	5p14-p13	2012-10-02	2010-04-30			ENSG00000112972	2.3.3.10		5007	protein-coding gene	gene with protein product	"""3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase"""	142940	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)"""	HMGCS			Standard	NM_001098272		Approved		uc003jnq.5	Q01581		ENST00000325110.6:c.684A>G	5.37:g.43297159T>C						HMGCS1_uc003jnp.3_5'Flank|HMGCS1_uc003jnq.3_Silent_p.A228A	p.A228A	NM_001098272	NP_001091742	Q01581	HMCS1_HUMAN			5	891	-			228					B2RDL8	Silent	SNP	ENST00000325110.6	37	c.684A>G	CCDS34154.1																																																																																				0.413	HMGCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368022.1			65	174	0	0	0	0.01441	0	65	174				
ITGA1	3672	broad.mit.edu	37	5	52204758	52204758	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:52204758A>T	ENST00000282588.6	+	13	1944	c.1486A>T	c.(1486-1488)Aca>Tca	p.T496S		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	496					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)	p.T496S(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TATTTTAACAACAACTGACAT	0.383																																							uc003jou.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(1486-1488)ACA>TCA		integrin, alpha 1 precursor							159.0	153.0	155.0					5																	52204758		2203	4300	6503	SO:0001583	missense	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52204758A>T	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.1486A>T	5.37:g.52204758A>T	ENSP00000282588:p.Thr496Ser					ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Missense_Mutation_p.T27S	p.T496S	NM_181501	NP_852478	P56199	ITA1_HUMAN			13	1538	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	496			Extracellular (Potential).|FG-GAP 5.		B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	c.1486A>T	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	A	14.30	2.494458	0.44352	.	.	ENSG00000213949	ENST00000282588	T	0.21543	2.0	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.15046	0.0363	L	0.31476	0.935	0.80722	D	1	B	0.28713	0.22	B	0.27887	0.084	T	0.03034	-1.1080	10	0.02654	T	1	.	16.5602	0.84551	1.0:0.0:0.0:0.0	.	496	P56199	ITA1_HUMAN	S	496	ENSP00000282588:T496S	ENSP00000282588:T496S	T	+	1	0	ITGA1	52240515	1.000000	0.71417	0.945000	0.38365	0.957000	0.61999	7.033000	0.76504	2.367000	0.80283	0.528000	0.53228	ACA		0.383	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		48	85	0	0	0	0.01441	0	48	85				
ITGA2	3673	broad.mit.edu	37	5	52351515	52351515	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:52351515A>G	ENST00000296585.5	+	8	1070	c.927A>G	c.(925-927)atA>atG	p.I309M		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	309	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)	p.I309M(4)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GGTTTGGCATAGCAGTAAGTG	0.398																																							uc003joy.2		NA																	4	Substitution - Missense(4)		lung(4)	lung(1)	1						c.(925-927)ATA>ATG		integrin alpha 2 precursor							195.0	189.0	191.0					5																	52351515		2203	4300	6503	SO:0001583	missense	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52351515A>G		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.927A>G	5.37:g.52351515A>G	ENSP00000296585:p.Ile309Met					ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.I233M|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	p.I309M	NM_002203	NP_002194	P17301	ITA2_HUMAN			8	1070	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	309			Extracellular (Potential).|VWFA.		Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	c.927A>G	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	A	17.19	3.326329	0.60743	.	.	ENSG00000164171	ENST00000296585	T	0.62232	0.04	5.54	3.04	0.35103	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.78836	0.4346	M	0.89163	3.01	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.77368	-0.2614	10	0.87932	D	0	.	7.3352	0.26605	0.6151:0.1228:0.0:0.2621	.	309;309	E7ESP4;P17301	.;ITA2_HUMAN	M	309	ENSP00000296585:I309M	ENSP00000296585:I309M	I	+	3	3	ITGA2	52387272	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.248000	0.32827	0.337000	0.23665	0.528000	0.53228	ATA		0.398	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		24	151	0	0	0	0.014323	0	24	151				
FST	10468	broad.mit.edu	37	5	52779455	52779455	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:52779455G>A	ENST00000256759.3	+	3	782	c.399G>A	c.(397-399)ggG>ggA	p.G133G	FST_ENST00000396947.3_Silent_p.G133G	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	133	Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.				BMP signaling pathway (GO:0030509)|female gonad development (GO:0008585)|gamete generation (GO:0007276)|hair follicle morphogenesis (GO:0031069)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinocyte proliferation (GO:0043616)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|pattern specification process (GO:0007389)|positive regulation of hair follicle development (GO:0051798)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	activin binding (GO:0048185)|signal transducer activity (GO:0004871)	p.G133G(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				CAGTCTGCGGGCTGGATGGGA	0.512																																							uc003jpd.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(397-399)GGG>GGA		follistatin isoform FST344 precursor							71.0	69.0	70.0					5																	52779455		2203	4300	6503	SO:0001819	synonymous_variant	10468				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity	g.chr5:52779455G>A	M19481	CCDS3959.1, CCDS43315.1	5q11.2	2008-02-05			ENSG00000134363	ENSG00000134363			3971	protein-coding gene	gene with protein product		136470				10411917, 3380788	Standard	NM_006350		Approved	FS	uc003jpd.3	P19883	OTTHUMG00000131183	ENST00000256759.3:c.399G>A	5.37:g.52779455G>A						FST_uc003jpc.2_Silent_p.G133G	p.G133G	NM_013409	NP_037541	P19883	FST_HUMAN			3	426	+		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)	133			Kazal-like 1.		B5BU94|Q9BTH0	Silent	SNP	ENST00000256759.3	37	c.399G>A	CCDS3959.1																																																																																				0.512	FST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253906.1	NM_013409		26	61	0	0	0	0.01892	0	26	61				
F2RL1	2150	broad.mit.edu	37	5	76128923	76128923	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:76128923T>A	ENST00000296677.4	+	2	697	c.491T>A	c.(490-492)cTc>cAc	p.L164H		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	164					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)	p.L164H(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		TGTTCCATTCTCTTCATGACC	0.468																																							uc003keo.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(490-492)CTC>CAC		coagulation factor II (thrombin) receptor-like 1							316.0	292.0	300.0					5																	76128923		2203	4300	6503	SO:0001583	missense	2150				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	g.chr5:76128923T>A	BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"""GPCR / Class A : Protease activated receptors"""	3538	protein-coding gene	gene with protein product	"""proteinase-activated receptor-2"""	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.491T>A	5.37:g.76128923T>A	ENSP00000296677:p.Leu164His						p.L164H	NM_005242	NP_005233	P55085	PAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)	2	666	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	164			Helical; Name=3; (Potential).		Q13317|Q13346|Q53XJ8	Missense_Mutation	SNP	ENST00000296677.4	37	c.491T>A	CCDS4033.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.085748	0.76642	.	.	ENSG00000164251	ENST00000514165;ENST00000296677	T;T	0.42900	0.96;0.96	5.96	5.96	0.96718	GPCR, rhodopsin-like superfamily (1);	0.116551	0.64402	D	0.000012	T	0.71542	0.3352	M	0.89534	3.04	0.58432	D	0.999998	D	0.89917	1.0	D	0.81914	0.995	T	0.78214	-0.2291	10	0.87932	D	0	-32.6113	16.4187	0.83751	0.0:0.0:0.0:1.0	.	164	P55085	PAR2_HUMAN	H	70;164	ENSP00000425622:L70H;ENSP00000296677:L164H	ENSP00000296677:L164H	L	+	2	0	F2RL1	76164679	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.081000	0.64444	2.274000	0.75844	0.533000	0.62120	CTC		0.468	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2			72	237	0	0	0	0.01441	0	72	237				
ARSB	411	broad.mit.edu	37	5	78135202	78135202	+	Missense_Mutation	SNP	G	G	A	rs367922842		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:78135202G>A	ENST00000264914.4	-	6	1726	c.1190C>T	c.(1189-1191)cCg>cTg	p.P397L	ARSB_ENST00000565165.1_Missense_Mutation_p.P397L|ARSB_ENST00000396151.3_Missense_Mutation_p.P397L	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	397					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)	p.P397L(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		CACGAAGTTCGGGTCAATATT	0.428																																					Melanoma(169;563 1968 25780 26156 52266)	Melanoma(169;563 1968 25780 26156 52266)	uc003kfq.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(1189-1191)CCG>CTG		arylsulfatase B isoform 1 precursor							140.0	138.0	139.0					5																	78135202		2203	4300	6503	SO:0001583	missense	411				lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity	g.chr5:78135202G>A	M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"""Arylsulfatase family"""	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.1190C>T	5.37:g.78135202G>A	ENSP00000264914:p.Pro397Leu					ARSB_uc003kfr.3_Missense_Mutation_p.P397L	p.P397L	NM_000046	NP_000037	P15848	ARSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)	6	2476	-		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)	397					B2RC20|Q8N322|Q9UDI9	Missense_Mutation	SNP	ENST00000264914.4	37	c.1190C>T	CCDS4043.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.908626	0.33721	.	.	ENSG00000113273	ENST00000264914;ENST00000396151	D;D	0.96168	-3.93;-3.93	5.78	4.9	0.64082	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.247007	0.40554	N	0.001064	D	0.97417	0.9155	M	0.88704	2.975	0.58432	D	0.999997	D;D	0.76494	0.999;0.986	P;P	0.58391	0.838;0.727	D	0.97679	1.0171	10	0.62326	D	0.03	.	14.2066	0.65739	0.0:0.0:0.85:0.15	.	397;397	Q8N322;P15848	.;ARSB_HUMAN	L	397	ENSP00000264914:P397L;ENSP00000379455:P397L	ENSP00000264914:P397L	P	-	2	0	ARSB	78170958	0.996000	0.38824	0.874000	0.34290	0.053000	0.15095	2.592000	0.46171	1.422000	0.47177	0.561000	0.74099	CCG		0.428	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	NM_000046		24	84	0	0	0	0.004656	0	24	84				
BHMT	635	broad.mit.edu	37	5	78426781	78426781	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:78426781C>A	ENST00000274353.5	+	8	1170	c.1063C>A	c.(1063-1065)Ctt>Att	p.L355I	DMGDH_ENST00000520388.1_Intron|BHMT_ENST00000524080.1_Missense_Mutation_p.L202I	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	355					amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.L355I(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	CTGGGAGAATCTTCGGATAGC	0.502																																							uc003kfu.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1063-1065)CTT>ATT		betaine-homocysteine methyltransferase	L-Methionine(DB00134)						123.0	129.0	127.0					5																	78426781		2203	4300	6503	SO:0001583	missense	635				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	g.chr5:78426781C>A	BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"""betaine homocysteine methyltransferase"""	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.1063C>A	5.37:g.78426781C>A	ENSP00000274353:p.Leu355Ile					BHMT_uc011cti.1_Missense_Mutation_p.L202I	p.L355I	NM_001713	NP_001704	Q93088	BHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	8	1168	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	355					Q9UNI9	Missense_Mutation	SNP	ENST00000274353.5	37	c.1063C>A	CCDS4046.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132168	0.77662	.	.	ENSG00000145692	ENST00000274353;ENST00000524080	T;T	0.31769	1.48;1.48	5.55	5.55	0.83447	Homocysteine S-methyltransferase (2);	0.066459	0.64402	D	0.000006	T	0.41627	0.1167	M	0.74647	2.275	0.80722	D	1	B;B	0.34329	0.449;0.024	B;B	0.37198	0.243;0.061	T	0.30534	-0.9975	10	0.41790	T	0.15	-9.9809	19.5116	0.95144	0.0:1.0:0.0:0.0	.	202;355	E5RJH0;Q93088	.;BHMT1_HUMAN	I	355;202	ENSP00000274353:L355I;ENSP00000428240:L202I	ENSP00000274353:L355I	L	+	1	0	BHMT	78462537	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.472000	0.45136	2.619000	0.88677	0.655000	0.94253	CTT		0.502	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226961.1	NM_001713		110	127	1	0	1.44639e-49	0.01441	2.04318e-49	110	127				
HSPA9	3313	broad.mit.edu	37	5	137909529	137909529	+	Missense_Mutation	SNP	T	T	C	rs138260125		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:137909529T>C	ENST00000297185.3	-	3	276	c.151A>G	c.(151-153)Atc>Gtc	p.I51V		NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	51					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.I51V(2)		breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCTCCCTTGATTGCTTCTGAT	0.373																																							uc003ldf.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(151-153)ATC>GTC		heat shock 70kDa protein 9 precursor		T	VAL/ILE	0,4406		0,0,2203	97.0	89.0	92.0		151	5.5	1.0	5	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	no	missense	HSPA9	NM_004134.6	29	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	51/680	137909529	1,13005	2203	4300	6503	SO:0001583	missense	3313				anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding	g.chr5:137909529T>C	L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"""Heat shock proteins / HSP70"""	5244	protein-coding gene	gene with protein product		600548	"""heat shock 70kDa protein 9B (mortalin-2)"""	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.151A>G	5.37:g.137909529T>C	ENSP00000297185:p.Ile51Val					HSPA9_uc011cyw.1_5'UTR	p.I51V	NM_004134	NP_004125	P38646	GRP75_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		3	259	-			51					B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Missense_Mutation	SNP	ENST00000297185.3	37	c.151A>G	CCDS4208.1	.	.	.	.	.	.	.	.	.	.	T	6.847	0.525527	0.13066	0.0	1.16E-4	ENSG00000113013	ENST00000297185;ENST00000540484	T	0.00902	5.56	5.51	5.51	0.81932	.	0.046348	0.85682	D	0.000000	T	0.00695	0.0023	N	0.08118	0	0.53688	D	0.999978	B	0.02656	0.0	B	0.04013	0.001	T	0.50668	-0.8801	10	0.02654	T	1	-12.0411	15.5863	0.76485	0.0:0.0:0.0:1.0	.	51	P38646	GRP75_HUMAN	V	51;37	ENSP00000297185:I51V	ENSP00000297185:I51V	I	-	1	0	HSPA9	137937428	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.588000	0.60999	2.225000	0.72522	0.533000	0.62120	ATC		0.373	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1	NM_004134		28	23	0	0	0	0.010818	0	28	23				
PCDHA6	56142	broad.mit.edu	37	5	140209511	140209511	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:140209511A>C	ENST00000529310.1	+	1	1949	c.1835A>C	c.(1834-1836)cAg>cCg	p.Q612P	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	612	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATGAGCTGCAGCCCCCGGCA	0.667																																							uc003lho.2		NA																	0				haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(1834-1836)CAG>CCG		protocadherin alpha 6 isoform 1 precursor							78.0	79.0	79.0					5																	140209511		2203	4300	6503	SO:0001583	missense	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140209511A>C	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1835A>C	5.37:g.140209511A>C	ENSP00000433378:p.Gln612Pro					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Missense_Mutation_p.Q612P	p.Q612P	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1862	+			612			Cadherin 6.|Extracellular (Potential).		O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.1835A>C	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	A	2.883	-0.231314	0.05983	.	.	ENSG00000081842	ENST00000529310	T	0.52526	0.66	3.87	-2.6	0.06190	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.35189	0.0923	L	0.54908	1.71	0.22017	N	0.999412	B;B	0.21225	0.053;0.01	B;B	0.20767	0.031;0.021	T	0.38415	-0.9662	9	0.49607	T	0.09	.	2.263	0.04071	0.4499:0.1209:0.0755:0.3536	.	612;612	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	P	612	ENSP00000433378:Q612P	ENSP00000433378:Q612P	Q	+	2	0	PCDHA6	140189695	0.000000	0.05858	0.309000	0.25155	0.240000	0.25518	0.070000	0.14573	-0.156000	0.11079	0.254000	0.18369	CAG		0.667	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		3	94	0	0	0	0.004672	0	3	94				
PCDHB3	56132	broad.mit.edu	37	5	140481535	140481535	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:140481535G>C	ENST00000231130.2	+	1	1302	c.1302G>C	c.(1300-1302)aaG>aaC	p.K434N	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	434	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.K434N(2)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAAAACCAAGTACAACATAA	0.562																																							uc003lio.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(1300-1302)AAG>AAC		protocadherin beta 3 precursor							97.0	92.0	94.0					5																	140481535		2203	4300	6503	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140481535G>C	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1302G>C	5.37:g.140481535G>C	ENSP00000231130:p.Lys434Asn					uc003lin.2_Intron	p.K434N	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1302	+			434			Extracellular (Potential).|Cadherin 4.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1302G>C	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	0.186	-1.057339	0.01965	.	.	ENSG00000113205	ENST00000231130	T	0.01725	4.67	4.39	2.58	0.30949	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.00724	0.0024	N	0.00742	-1.23	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.47787	-0.9090	9	0.54805	T	0.06	.	4.8681	0.13618	0.3315:0.1619:0.5066:0.0	.	434	Q9Y5E6	PCDB3_HUMAN	N	434	ENSP00000231130:K434N	ENSP00000231130:K434N	K	+	3	2	PCDHB3	140461719	0.000000	0.05858	0.008000	0.14137	0.017000	0.09413	-0.578000	0.05841	0.417000	0.25871	0.655000	0.94253	AAG		0.562	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		40	99	0	0	0	0.006999	0	40	99				
PCDHGA4	56111	broad.mit.edu	37	5	140736176	140736176	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:140736176C>T	ENST00000571252.1	+	1	1409	c.1409C>T	c.(1408-1410)tCc>tTc	p.S470F	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	470	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGAGCCTCCATCTTATCT	0.507																																							uc003ljq.1		NA																	0					0						c.(1408-1410)TCC>TTC		protocadherin gamma subfamily A, 4 isoform 1							118.0	123.0	121.0					5																	140736176		2075	4248	6323	SO:0001583	missense	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140736176C>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.1409C>T	5.37:g.140736176C>T	ENSP00000458570:p.Ser470Phe					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.S470F	p.S470F	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1409	+			470			Extracellular (Potential).|Cadherin 5.		Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.1409C>T	CCDS58979.1																																																																																				0.507	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		40	113	0	0	0	0.006999	0	40	113				
SPINK7	84651	broad.mit.edu	37	5	147693664	147693664	+	Splice_Site	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:147693664T>A	ENST00000274565.4	+	3	150	c.89T>A	c.(88-90)gTg>gAg	p.V30E	SPINK7_ENST00000514394.1_3'UTR|RP11-373N22.3_ENST00000501695.3_RNA|SPINK7_ENST00000523535.1_Missense_Mutation_p.V4E	NM_032566.2	NP_115955.1	P58062	ISK7_HUMAN	serine peptidase inhibitor, Kazal type 7 (putative)	30	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V30E(2)		large_intestine(2)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGACACAGGTGGACTGCAGC	0.468																																							uc003lpd.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(88-90)GTG>GAG		serine peptidase inhibitor, Kazal type 7							249.0	222.0	231.0					5																	147693664		2203	4300	6503	SO:0001630	splice_region_variant	84651					extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr5:147693664T>A		CCDS4289.1	5q32	2011-08-31			ENSG00000145879	ENSG00000145879		"""Serine peptidase inhibitors, Kazal type"""	24643	protein-coding gene	gene with protein product	"""esophagus cancer related gene 2"""					12646258, 12970870	Standard	NM_032566		Approved	ECG2, ECRG2	uc003lpd.3	P58062	OTTHUMG00000163522	ENST00000274565.4:c.88-1T>A	5.37:g.147693664T>A						uc003lpb.1_Intron	p.V30E	NM_032566	NP_115955	P58062	ISK7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	146	+			30			Kazal-like.		Q32LY0	Missense_Mutation	SNP	ENST00000274565.4	37	c.89T>A	CCDS4289.1	.	.	.	.	.	.	.	.	.	.	T	14.95	2.689360	0.48097	.	.	ENSG00000145879	ENST00000274565;ENST00000523535	T;T	0.74632	-0.86;-0.86	5.7	3.14	0.36123	.	0.758456	0.11727	N	0.535317	T	0.62490	0.2432	.	.	.	0.26611	N	0.972846	B	0.25351	0.124	B	0.19666	0.026	T	0.56056	-0.8042	9	0.56958	D	0.05	-0.1572	6.8809	0.24173	0.1481:0.0:0.1539:0.6979	.	30	P58062	ISK7_HUMAN	E	30;4	ENSP00000274565:V30E;ENSP00000427887:V4E	ENSP00000274565:V30E	V	+	2	0	SPINK7	147673857	1.000000	0.71417	0.989000	0.46669	0.848000	0.48234	1.348000	0.33987	1.080000	0.41073	0.533000	0.62120	GTG		0.468	SPINK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251944.5	NM_032566	Missense_Mutation	113	115	0	0	0	0.01441	0	113	115				
TIMD4	91937	broad.mit.edu	37	5	156381703	156381703	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:156381703C>G	ENST00000274532.2	-	2	179	c.123G>C	c.(121-123)ctG>ctC	p.L41L	TIMD4_ENST00000407087.3_Silent_p.L41L	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	41	Ig-like V-type.					integral component of membrane (GO:0016021)		p.L41L(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)			AGGATGAGTACAGACAGGGCA	0.527																																							uc003lwh.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(121-123)CTG>CTC		T-cell immunoglobulin and mucin domain							75.0	77.0	76.0					5																	156381703		2203	4300	6503	SO:0001819	synonymous_variant	91937					integral to membrane		g.chr5:156381703C>G	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.123G>C	5.37:g.156381703C>G						TIMD4_uc010jii.2_Silent_p.L41L	p.L41L	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	180	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	41			Ig-like V-type.|Extracellular (Potential).		B5MCL9	Silent	SNP	ENST00000274532.2	37	c.123G>C	CCDS4332.1																																																																																				0.527	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		41	50	0	0	0	0.009718	0	41	50				
FAF2	23197	broad.mit.edu	37	5	175919294	175919294	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr5:175919294G>A	ENST00000261942.6	+	5	497	c.444G>A	c.(442-444)ggG>ggA	p.G148G		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	148					lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.G148G(2)		breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						AGAAATATGGGAGGGCACACC	0.488																																							uc003mej.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(442-444)GGG>GGA		UBX domain containing 8							87.0	80.0	82.0					5																	175919294		2203	4300	6503	SO:0001819	synonymous_variant	23197				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding	g.chr5:175919294G>A	BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194		"""UBX domain containing"""	24666	protein-coding gene	gene with protein product	"""expressed in T cells and eosinophils in atopic dermatitis"", ""UBX domain protein 3B"""		"""UBX domain containing 8"""	UBXD8		10048485, 12372427	Standard	NM_014613		Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.444G>A	5.37:g.175919294G>A							p.G148G	NM_014613	NP_055428	Q96CS3	FAF2_HUMAN			5	497	+			148					O94963|Q8IUF2|Q9BRP2|Q9BVM7	Silent	SNP	ENST00000261942.6	37	c.444G>A	CCDS34296.1																																																																																				0.488	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372194.1	NM_014613		13	72	0	0	0	0.003163	0	13	72				
HDGFL1	154150	broad.mit.edu	37	6	22569979	22569979	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:22569979T>A	ENST00000230012.3	+	1	302	c.175T>A	c.(175-177)Tac>Aac	p.Y59N	HDGFL1_ENST00000510882.2_Missense_Mutation_p.Y59N	NM_138574.2	NP_612641.2	Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	59	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.							p.Y59N(2)		kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					CCTGTTCCCGTACAAGGAGTG	0.617																																							uc003nds.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(175-177)TAC>AAC		hepatoma derived growth factor-like 1							62.0	64.0	63.0					6																	22569979		2203	4300	6503	SO:0001583	missense	154150							g.chr6:22569979T>A	AK056824	CCDS34347.1	6p22.2	2008-02-05	2005-04-07	2005-04-07	ENSG00000112273	ENSG00000112273			21095	protein-coding gene	gene with protein product			"""PWWP domain containing 1"""	PWWP1			Standard	NM_138574		Approved	dJ309H15.1	uc003nds.3	Q5TGJ6	OTTHUMG00000016206	ENST00000230012.3:c.175T>A	6.37:g.22569979T>A	ENSP00000230012:p.Tyr59Asn						p.Y59N	NM_138574	NP_612641	Q5TGJ6	HDGL1_HUMAN			1	302	+	Ovarian(93;0.163)		59			PWWP.		Q96MJ6	Missense_Mutation	SNP	ENST00000230012.3	37	c.175T>A	CCDS34347.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.174651	0.57692	.	.	ENSG00000112273	ENST00000230012;ENST00000510882	T;T	0.73897	-0.79;-0.79	3.28	3.28	0.37604	PWWP (3);	0.000000	0.64402	D	0.000001	D	0.87148	0.6105	H	0.96239	3.79	0.44432	D	0.997352	D	0.89917	1.0	D	0.85130	0.997	D	0.89410	0.3702	10	0.87932	D	0	-35.0147	10.2282	0.43238	0.0:0.0:0.0:1.0	.	59	Q5TGJ6	HDGL1_HUMAN	N	59	ENSP00000230012:Y59N;ENSP00000442129:Y59N	ENSP00000230012:Y59N	Y	+	1	0	HDGFL1	22677958	1.000000	0.71417	0.900000	0.35374	0.712000	0.41017	6.546000	0.73887	1.733000	0.51620	0.402000	0.26972	TAC		0.617	HDGFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043500.1	NM_138574		27	76	0	0	0	0.005443	0	27	76				
HIST1H1C	3006	broad.mit.edu	37	6	26056435	26056435	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:26056435C>T	ENST00000343677.2	-	1	264	c.222G>A	c.(220-222)gaG>gaA	p.E74E		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	74	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TGTTGTTTTTCTCCACATCAT	0.537																																							uc003nfw.2		NA																	0				ovary(3)|skin(2)	5						c.(220-222)GAG>GAA		histone cluster 1, H1c							93.0	99.0	97.0					6																	26056435		2203	4300	6503	SO:0001819	synonymous_variant	3006				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26056435C>T	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.222G>A	6.37:g.26056435C>T							p.E74E	NM_005319	NP_005310	P16403	H12_HUMAN			1	265	-			74			H15.		A8K4I2	Silent	SNP	ENST00000343677.2	37	c.222G>A	CCDS4577.1																																																																																				0.537	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		39	146	0	0	0	0.01441	0	39	146				
HIST1H2BC	8347	broad.mit.edu	37	6	26123802	26123802	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:26123802C>G	ENST00000314332.5	-	1	336	c.331G>C	c.(331-333)Gcc>Ccc	p.A111P	HIST1H2AC_ENST00000377791.2_5'Flank|HIST1H2AC_ENST00000602637.1_5'Flank|HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.A111P			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	111					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A111P(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						TCCGACACGGCGTGCTTGGCC	0.587																																							uc003ngk.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(331-333)GCC>CCC		histone cluster 1, H2bc							79.0	82.0	81.0					6																	26123802		2203	4299	6502	SO:0001583	missense	8347				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26123802C>G	Z80783	CCDS4584.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000180596	ENSG00000180596		"""Histones / Replication-dependent"""	4757	protein-coding gene	gene with protein product		602847	"""H2B histone family, member L"", ""histone 1, H2bc"""	H2BFL		9119399, 12408966	Standard	NM_003526		Approved	H2B/l, H2B.1	uc003ngl.3	P62807	OTTHUMG00000014425	ENST00000314332.5:c.331G>C	6.37:g.26123802C>G	ENSP00000321744:p.Ala111Pro					HIST1H2BC_uc003ngl.2_Missense_Mutation_p.A111P|HIST1H2AC_uc003ngm.2_5'Flank|HIST1H2AC_uc003ngn.2_5'Flank|HIST1H2AC_uc003ngo.2_5'Flank|HIST1H2AC_uc003ngp.2_5'Flank	p.A111P	NM_003526	NP_003517	P62807	H2B1C_HUMAN			1	353	-			111					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000314332.5	37	c.331G>C	CCDS4584.1	.	.	.	.	.	.	.	.	.	.	.	31	5.091467	0.94149	.	.	ENSG00000180596	ENST00000314332;ENST00000396984	T;T	0.37752	1.18;1.18	5.61	4.74	0.60224	Histone-fold (2);	0.000000	0.38959	U	0.001506	T	0.50188	0.1601	.	.	.	0.40883	D	0.984017	D	0.69078	0.997	D	0.67103	0.949	T	0.59789	-0.7388	9	0.87932	D	0	.	13.801	0.63199	0.0:0.9262:0.0:0.0738	.	111	P62807	H2B1C_HUMAN	P	111	ENSP00000321744:A111P;ENSP00000380180:A111P	ENSP00000321744:A111P	A	-	1	0	HIST1H2BC	26231781	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.968000	0.70413	1.494000	0.48533	0.650000	0.86243	GCC		0.587	HIST1H2BC-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468022.1	NM_003526		14	170	0	0	0	0.016723	0	14	170				
BTN2A3P	54718	broad.mit.edu	37	6	26431814	26431814	+	RNA	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:26431814C>A	ENST00000466808.2	+	0	1762							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P578T(2)									ACTAGTTGTTCCACAGCTCCC	0.483																																							uc011dkl.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1732-1734)CCA>ACA		RecName: Full=Butyrophilin subfamily 2 member A3; Flags: Precursor;							109.0	110.0	109.0					6																	26431814		2203	4300	6503			54718							g.chr6:26431814C>A	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26431814C>A						BTN2A3_uc011dkm.1_RNA	p.P578T							6	1762	+								A6NEF4	Missense_Mutation	SNP	ENST00000466808.2	37	c.1732C>A																																																																																					0.483	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		86	172	1	0	3.27475e-32	0.01441	4.44957e-32	86	172				
HIST1H2AH	85235	broad.mit.edu	37	6	27115128	27115128	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:27115128A>T	ENST00000377459.1	+	1	268	c.221A>T	c.(220-222)aAc>aTc	p.N74I	HIST1H2BK_ENST00000356950.1_5'Flank|HIST1H2BK_ENST00000396891.4_5'Flank|MIR3143_ENST00000584253.1_RNA	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	74						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.N74I(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						GCCCGCGACAACAAGAAGACC	0.647																																							uc003niz.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(220-222)AAC>ATC		histone cluster 1, H2ah							85.0	81.0	83.0					6																	27115128		2203	4300	6503	SO:0001583	missense	85235				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27115128A>T	AY131988	CCDS4622.1	6p22.1	2011-01-27	2006-10-11			ENSG00000274997		"""Histones / Replication-dependent"""	13671	protein-coding gene	gene with protein product		615013	"""histone 1, H2ah"""			12408966	Standard	NM_080596		Approved	H2AFALii, dJ86C11.1, H2A/S	uc003niz.4	Q96KK5		ENST00000377459.1:c.221A>T	6.37:g.27115128A>T	ENSP00000366679:p.Asn74Ile					HIST1H2BK_uc003nix.1_5'Flank|hsa-mir-3143|MI0014167_5'Flank	p.N74I	NM_080596	NP_542163	Q96KK5	H2A1H_HUMAN			1	221	+			74						Missense_Mutation	SNP	ENST00000377459.1	37	c.221A>T	CCDS4622.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.262745	0.59431	.	.	ENSG00000184825	ENST00000377459	T	0.69306	-0.39	3.95	3.95	0.45737	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.44902	D	0.000419	T	0.76154	0.3948	M	0.86178	2.8	0.40941	D	0.98446	D	0.59767	0.986	D	0.64687	0.928	T	0.80997	-0.1132	10	0.87932	D	0	.	11.4199	0.49976	1.0:0.0:0.0:0.0	.	74	Q96KK5	H2A1H_HUMAN	I	74	ENSP00000366679:N74I	ENSP00000366679:N74I	N	+	2	0	HIST1H2AH	27223107	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	8.445000	0.90326	1.740000	0.51718	0.533000	0.62120	AAC		0.647	HIST1H2AH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040136.1	NM_080596		32	92	0	0	0	0.012213	0	32	92				
ZNF391	346157	broad.mit.edu	37	6	27368223	27368223	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:27368223C>G	ENST00000244576.4	+	3	619	c.74C>G	c.(73-75)tCa>tGa	p.S25*		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	25					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)			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						GGCCAATTATCAAGGCAAACA	0.418																																							uc003njf.1		NA																	0				pancreas(2)|skin(1)	3						c.(73-75)TCA>TGA		zinc finger protein 391							114.0	104.0	107.0					6																	27368223		1856	4099	5955	SO:0001587	stop_gained	346157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27368223C>G	BC132797	CCDS43429.1	6p21	2013-01-08			ENSG00000124613	ENSG00000124613		"""Zinc fingers, C2H2-type"""	18779	protein-coding gene	gene with protein product							Standard	NM_001076781		Approved	dJ153G14.3	uc003njf.1	Q9UJN7	OTTHUMG00000014477	ENST00000244576.4:c.74C>G	6.37:g.27368223C>G	ENSP00000244576:p.Ser25*						p.S25*	NM_001076781	NP_001070249	Q9UJN7	ZN391_HUMAN			3	592	+			25					B4DH77	Nonsense_Mutation	SNP	ENST00000244576.4	37	c.74C>G	CCDS43429.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986306	0.35036	.	.	ENSG00000124613	ENST00000244576;ENST00000461521	.	.	.	3.74	0.725	0.18242	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	6.2496	0.20837	0.4981:0.3356:0.1663:0.0	.	.	.	.	X	25	.	ENSP00000244576:S25X	S	+	2	0	ZNF391	27476202	0.000000	0.05858	0.063000	0.19743	0.023000	0.10783	-0.386000	0.07370	0.740000	0.32651	0.655000	0.94253	TCA		0.418	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040145.2	NM_001076781		5	173	0	0	0	0.001984	0	5	173				
HIST1H2AJ	8331	broad.mit.edu	37	6	27782453	27782453	+	Silent	SNP	G	G	T	rs201651725		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:27782453G>T	ENST00000333151.3	-	1	154	c.66C>A	c.(64-66)gcC>gcA	p.A22A	HIST1H2BM_ENST00000359465.4_5'Flank	NM_021066.2	NP_066544.1	Q99878	H2A1J_HUMAN	histone cluster 1, H2aj	22						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A22A(3)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	11						ACTGAAGCCCGGCCCGAGAAG	0.622																																							uc003njn.1		NA																	3	Substitution - coding silent(3)		lung(3)		0						c.(64-66)GCC>GCA		histone cluster 1, H2aj							29.0	38.0	35.0					6																	27782453		2195	4290	6485	SO:0001819	synonymous_variant	8331				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27782453G>T	Z83736	CCDS4628.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000182611	ENSG00000276368		"""Histones / Replication-dependent"""	4727	protein-coding gene	gene with protein product		602791	"""H2A histone family, member E"", ""histone 1, H2aj"""	H2AFE		9439656, 12408966	Standard	NM_021066		Approved	H2A/E	uc003njn.1	Q99878	OTTHUMG00000014486	ENST00000333151.3:c.66C>A	6.37:g.27782453G>T						HIST1H2BM_uc003njo.2_5'Flank	p.A22A	NM_021066	NP_066544	Q99878	H2A1J_HUMAN			1	66	-			22					A2RUU6|Q5JXQ5	Silent	SNP	ENST00000333151.3	37	c.66C>A	CCDS4628.1																																																																																				0.622	HIST1H2AJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040154.1	NM_021066		40	56	1	0	2.76378e-25	0.01441	3.64782e-25	40	56				
OR11A1	26531	broad.mit.edu	37	6	29394899	29394899	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:29394899G>A	ENST00000377149.1	-	5	992	c.520C>T	c.(520-522)Cac>Tac	p.H174Y	OR11A1_ENST00000377147.2_Missense_Mutation_p.H174Y|OR11A1_ENST00000377148.1_Missense_Mutation_p.H174Y|OR5V1_ENST00000377154.1_Intron			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H174Y(2)		cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						TGGTCAATGTGGTTGGGGCCA	0.547																																							uc003nmg.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(520-522)CAC>TAC		olfactory receptor, family 11, subfamily A,							46.0	48.0	47.0					6																	29394899		1511	2708	4219	SO:0001583	missense	26531				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29394899G>A		CCDS34363.1	6p22.2-p21.31	2014-02-19	2002-02-28		ENSG00000204694	ENSG00000204694		"""GPCR / Class A : Olfactory receptors"""	8176	protein-coding gene	gene with protein product			"""olfactory receptor, family 11, subfamily A, member 2"""	OR11A2			Standard	XM_005249001		Approved	hs6M1-18	uc003nmg.3	Q9GZK7	OTTHUMG00000031225	ENST00000377149.1:c.520C>T	6.37:g.29394899G>A	ENSP00000366354:p.His174Tyr						p.H174Y	NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN			1	611	-			174			Extracellular (Potential).		A2BF33|A6NFQ3|B0S7T2|Q5ST16|Q9GZK8	Missense_Mutation	SNP	ENST00000377149.1	37	c.520C>T	CCDS34363.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.127470	0.00342	.	.	ENSG00000204694	ENST00000377148;ENST00000377149;ENST00000377147	T;T;T	0.00076	8.76;8.76;8.76	3.78	-3.32	0.04973	GPCR, rhodopsin-like superfamily (1);	3.192240	0.01383	N	0.013000	T	0.00039	0.0001	L	0.47190	1.495	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22765	-1.0207	10	0.15499	T	0.54	-0.0239	0.9431	0.01359	0.4007:0.1142:0.2549:0.2301	.	174	Q9GZK7	O11A1_HUMAN	Y	174	ENSP00000366353:H174Y;ENSP00000366354:H174Y;ENSP00000366352:H174Y	ENSP00000366352:H174Y	H	-	1	0	OR11A1	29502878	0.000000	0.05858	0.009000	0.14445	0.618000	0.37518	-1.440000	0.02412	-0.698000	0.05085	0.405000	0.27470	CAC		0.547	OR11A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193778.1			27	63	0	0	0	0.021523	0	27	63				
ATF6B	1388	broad.mit.edu	37	6	32087669	32087669	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:32087669G>A	ENST00000375203.3	-	9	930	c.898C>T	c.(898-900)Cca>Tca	p.P300S	ATF6B_ENST00000375201.4_Missense_Mutation_p.P297S	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	300					response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P300S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TCAGGCCGTGGTAGAGAGGGA	0.607																																							uc003nzn.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(898-900)CCA>TCA		activating transcription factor 6 beta isoform							86.0	72.0	77.0					6																	32087669		2203	4300	6503	SO:0001583	missense	1388				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:32087669G>A		CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	2349	protein-coding gene	gene with protein product		600984	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.898C>T	6.37:g.32087669G>A	ENSP00000364349:p.Pro300Ser					TNXB_uc010jts.1_5'Flank|ATF6B_uc003nzm.1_5'Flank|ATF6B_uc003nzo.2_Missense_Mutation_p.P297S|ATF6B_uc003nzp.1_5'UTR	p.P300S	NM_004381	NP_004372	Q99941	ATF6B_HUMAN			9	931	-			300			Cytoplasmic (Potential).		B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Missense_Mutation	SNP	ENST00000375203.3	37	c.898C>T	CCDS4737.1	.	.	.	.	.	.	.	.	.	.	G	9.527	1.109737	0.20714	.	.	ENSG00000213676	ENST00000375203;ENST00000375201	T;T	0.58652	0.32;1.07	4.99	2.15	0.27550	.	0.586350	0.12669	U	0.448937	T	0.24392	0.0591	L	0.27053	0.805	0.09310	N	1	B;B	0.33694	0.421;0.009	B;B	0.37601	0.254;0.006	T	0.16335	-1.0406	10	0.36615	T	0.2	-0.5584	8.4312	0.32759	0.0859:0.4557:0.4583:0.0	.	297;300	Q99941-2;Q99941	.;ATF6B_HUMAN	S	300;297	ENSP00000364349:P300S;ENSP00000364347:P297S	ENSP00000364347:P297S	P	-	1	0	ATF6B	32195647	0.140000	0.22579	0.153000	0.22517	0.603000	0.37013	0.557000	0.23454	0.143000	0.18926	0.551000	0.68910	CCA		0.607	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2			45	88	0	0	0	0.01441	0	45	88				
DNAH8	1769	broad.mit.edu	37	6	38867598	38867598	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:38867598G>T	ENST00000359357.3	+	60	8713	c.8459G>T	c.(8458-8460)gGt>gTt	p.G2820V	DNAH8_ENST00000441566.1_Missense_Mutation_p.G2784V|DNAH8_ENST00000449981.2_Missense_Mutation_p.G3037V			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2820	AAA 4. {ECO:0000250}.				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.G2820V(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						TTGCTGGTGGGTGTTGGTGGT	0.353																																							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.(8458-8460)GGT>GTT		dynein, axonemal, heavy polypeptide 8							155.0	143.0	147.0					6																	38867598		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38867598G>T	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.8459G>T	6.37:g.38867598G>T	ENSP00000352312:p.Gly2820Val						p.G2820V	NM_001371	NP_001362					60	9059	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.8459G>T		.	.	.	.	.	.	.	.	.	.	G	33	5.240891	0.95272	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	D;D;D	0.93604	-3.25;-3.25;-3.25	6.17	6.17	0.99709	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	D	0.98826	0.9604	H	0.99929	4.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98939	1.0790	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	2820	Q96JB1	DYH8_HUMAN	V	3025;3025;2820;2784	ENSP00000333363:G3025V;ENSP00000352312:G2820V;ENSP00000402294:G2784V	ENSP00000333363:G3025V	G	+	2	0	DNAH8	38975576	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.793000	0.99091	2.941000	0.99782	0.655000	0.94253	GGT		0.353	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		13	97	1	0	0.000151284	0.016723	0.00016028	13	97				
ZNF318	24149	broad.mit.edu	37	6	43308638	43308638	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:43308638A>G	ENST00000361428.2	-	9	3462	c.3385T>C	c.(3385-3387)Ttt>Ctt	p.F1129L	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1129					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GGAACCAGAAACTCAGAGCCT	0.448																																							uc003oux.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7						c.(3385-3387)TTT>CTT		zinc finger protein 318							83.0	81.0	82.0					6																	43308638		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43308638A>G	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.3385T>C	6.37:g.43308638A>G	ENSP00000354964:p.Phe1129Leu					ZNF318_uc003ouw.2_Intron	p.F1129L	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		9	3463	-			1129					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.3385T>C	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	A	20.3	3.971429	0.74246	.	.	ENSG00000171467	ENST00000361428	T	0.26660	1.72	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.44705	0.1306	M	0.73962	2.25	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.48269	-0.9050	10	0.87932	D	0	-16.7166	16.2988	0.82793	1.0:0.0:0.0:0.0	.	1129	Q5VUA4	ZN318_HUMAN	L	1129	ENSP00000354964:F1129L	ENSP00000354964:F1129L	F	-	1	0	ZNF318	43416616	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	8.577000	0.90773	2.311000	0.77944	0.533000	0.62120	TTT		0.448	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		8	129	0	0	0	0.00308	0	8	129				
CAPN11	11131	broad.mit.edu	37	6	44140984	44140984	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:44140984G>A	ENST00000398776.1	+	7	730	c.692G>A	c.(691-693)gGg>gAg	p.G231E	CAPN11_ENST00000542245.1_Missense_Mutation_p.G231E	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	231	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)	p.G231E(2)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCATTGTCAGGGGGCAGTACC	0.607											OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003owt.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(691-693)GGG>GAG		calpain 11							98.0	100.0	99.0					6																	44140984		1999	4169	6168	SO:0001583	missense	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44140984G>A	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.692G>A	6.37:g.44140984G>A	ENSP00000381758:p.Gly231Glu		OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	921		p.G231E	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		7	730	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		231			Calpain catalytic.		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	c.692G>A	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587734	0.66105	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	D;D	0.90261	-2.64;-2.64	4.36	3.49	0.39957	Peptidase C2, calpain, catalytic domain (3);	0.134094	0.34777	N	0.003684	D	0.96131	0.8739	H	0.98295	4.195	0.48632	D	0.999683	D	0.71674	0.998	P	0.62298	0.9	D	0.96857	0.9629	10	0.87932	D	0	.	12.1409	0.53996	0.0845:0.0:0.9155:0.0	.	231	Q9UMQ6	CAN11_HUMAN	E	231	ENSP00000381758:G231E;ENSP00000441078:G231E	ENSP00000381758:G231E	G	+	2	0	CAPN11	44248962	1.000000	0.71417	0.985000	0.45067	0.282000	0.26991	9.547000	0.98100	1.439000	0.47511	0.650000	0.86243	GGG		0.607	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			66	179	0	0	0	0.01441	0	66	179				
CDC5L	988	broad.mit.edu	37	6	44371547	44371547	+	Splice_Site	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:44371547C>A	ENST00000371477.3	+	6	840	c.541C>A	c.(541-543)Cgt>Agt	p.R181S		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	181	Nuclear localization signal. {ECO:0000255}.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)	p.R181S(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCTTTTCAGACGTCTTGCTGC	0.353																																							uc003oxl.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(1)|kidney(1)|skin(1)	6						c.(541-543)CGT>AGT		CDC5-like							44.0	46.0	46.0					6																	44371547		2203	4299	6502	SO:0001630	splice_region_variant	988				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	g.chr6:44371547C>A	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.540-1C>A	6.37:g.44371547C>A							p.R181S	NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		6	800	+	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		181			Potential.		Q76N46|Q99974	Missense_Mutation	SNP	ENST00000371477.3	37	c.541C>A	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224440	0.95139	.	.	ENSG00000096401	ENST00000371477	T	0.43688	0.94	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.75946	0.3919	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.83136	-0.0111	10	0.87932	D	0	-9.9608	20.5753	0.99366	0.0:1.0:0.0:0.0	.	181	Q99459	CDC5L_HUMAN	S	181	ENSP00000360532:R181S	ENSP00000360532:R181S	R	+	1	0	CDC5L	44479525	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.617000	0.83032	2.868000	0.98415	0.557000	0.71058	CGT		0.353	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1		Missense_Mutation	26	40	1	0	1.1804e-14	0.021523	1.44148e-14	26	40				
GPR115	221393	broad.mit.edu	37	6	47682493	47682493	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:47682493C>T	ENST00000283303.2	+	6	1770	c.1512C>T	c.(1510-1512)gtC>gtT	p.V504V	GPR115_ENST00000371220.1_Silent_p.V561V|GPR115_ENST00000327753.3_Silent_p.V504V|RN7SKP116_ENST00000516902.1_RNA	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	504					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.V504V(2)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GAATATTGGTCATTTTCCGTA	0.423																																					GBM(22;431 510 9010 26644 32828)	GBM(22;431 510 9010 26644 32828)	uc003oza.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1510-1512)GTC>GTT		G-protein coupled receptor 115 precursor							205.0	193.0	197.0					6																	47682493		2203	4300	6503	SO:0001819	synonymous_variant	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47682493C>T	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1512C>T	6.37:g.47682493C>T						GPR115_uc003oyz.1_Silent_p.V561V|GPR115_uc003ozb.1_Silent_p.V502V	p.V504V	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN			6	1770	+			504			Helical; Name=3; (Potential).		B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Silent	SNP	ENST00000283303.2	37	c.1512C>T	CCDS4922.2																																																																																				0.423	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		23	452	0	0	0	0.014323	0	23	452				
DEFB112	245915	broad.mit.edu	37	6	50011359	50011359	+	Missense_Mutation	SNP	C	C	T	rs267601067		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:50011359C>T	ENST00000322246.4	-	2	270	c.271G>A	c.(271-273)Gac>Aac	p.D91N		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	91					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.D91N(2)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TTATTTGGGTCCGTAGGGTCA	0.413																																							uc011dws.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(271-273)GAC>AAC		beta-defensin 112 precursor							161.0	133.0	143.0					6																	50011359		2203	4300	6503	SO:0001583	missense	245915				defense response to bacterium	extracellular region		g.chr6:50011359C>T	DQ012016	CCDS34476.1	6p12.3	2010-03-30			ENSG00000180872	ENSG00000180872		"""Defensins, beta"""	18093	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037498		Approved	DEFB-12	uc011dws.2	Q30KQ8	OTTHUMG00000160215	ENST00000322246.4:c.271G>A	6.37:g.50011359C>T	ENSP00000319126:p.Asp91Asn						p.D91N	NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN			2	271	-	Lung NSC(77;0.042)		91					Q8NET0	Missense_Mutation	SNP	ENST00000322246.4	37	c.271G>A	CCDS34476.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987757	0.35036	.	.	ENSG00000180872	ENST00000322246	.	.	.	2.22	0.14	0.14804	.	1.454940	0.05306	N	0.523870	T	0.05135	0.0137	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30149	-0.9988	9	0.16896	T	0.51	0.0101	4.4229	0.11490	0.0:0.5911:0.0:0.4089	.	91	Q30KQ8	DB112_HUMAN	N	91	.	ENSP00000319126:D91N	D	-	1	0	DEFB112	50119318	0.006000	0.16342	0.000000	0.03702	0.001000	0.01503	0.016000	0.13377	0.021000	0.15133	-0.242000	0.12053	GAC		0.413	DEFB112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359672.1	NM_001037498		25	106	0	0	0	0.004656	0	25	106				
MLIP	90523	broad.mit.edu	37	6	54025173	54025173	+	Missense_Mutation	SNP	T	T	A	rs142613357	byFrequency	TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:54025173T>A	ENST00000274897.5	+	5	806	c.693T>A	c.(691-693)gaT>gaA	p.D231E	MLIP_ENST00000509997.1_Intron|MLIP_ENST00000502396.1_Missense_Mutation_p.D766E|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000370877.2_Missense_Mutation_p.D155E|MLIP_ENST00000514921.1_Missense_Mutation_p.D755E	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	231						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)		p.D231E(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						AGGCACTAGATGAACCAGCCA	0.383																																							uc003pcg.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(691-693)GAT>GAA		hypothetical protein LOC90523		T	GLU/ASP	4,4402	8.1+/-20.4	0,4,2199	68.0	63.0	64.0		693	4.4	1.0	6	dbSNP_134	64	0,8600		0,0,4300	no	missense	MLIP	NM_138569.2	45	0,4,6499	AA,AT,TT		0.0,0.0908,0.0308	possibly-damaging	231/459	54025173	4,13002	2203	4300	6503	SO:0001583	missense	90523					nuclear envelope|PML body	protein binding	g.chr6:54025173T>A	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.693T>A	6.37:g.54025173T>A	ENSP00000274897:p.Asp231Glu					C6orf142_uc003pcf.2_Missense_Mutation_p.D755E|C6orf142_uc003pch.3_Intron|C6orf142_uc011dxa.1_Missense_Mutation_p.D766E	p.D231E	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN			5	806	+	Lung NSC(77;0.0317)		231					B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	ENST00000274897.5	37	c.693T>A	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	T	17.06	3.292255	0.59976	9.08E-4	0.0	ENSG00000146147	ENST00000274897;ENST00000514921;ENST00000370877;ENST00000447836;ENST00000502396;ENST00000370878;ENST00000514433	T;T;T;T;T;T	0.41758	0.99;0.99;1.7;0.99;0.99;1.64	5.62	4.4	0.53042	.	0.065138	0.56097	D	0.000022	T	0.41396	0.1157	L	0.49350	1.555	0.80722	D	1	D;D;D	0.76494	0.999;0.957;0.999	D;P;D	0.87578	0.998;0.693;0.998	T	0.29518	-1.0009	10	0.28530	T	0.3	-15.3448	9.4356	0.38637	0.0:0.0899:0.0:0.9101	.	766;231;755	Q5VWP3-3;Q5VWP3;D6RE05	.;MLIP_HUMAN;.	E	231;755;155;113;766;113;208	ENSP00000274897:D231E;ENSP00000425142:D755E;ENSP00000359914:D155E;ENSP00000411917:D113E;ENSP00000426290:D766E;ENSP00000421444:D208E	ENSP00000274897:D231E	D	+	3	2	MLIP	54133132	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.690000	0.25451	0.892000	0.36259	0.383000	0.25322	GAT		0.383	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		17	49	0	0	0	0.00499	0	17	49				
EYS	346007	broad.mit.edu	37	6	66204948	66204948	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:66204948G>T	ENST00000370621.3	-	4	882	c.356C>A	c.(355-357)aCa>aAa	p.T119K	EYS_ENST00000393380.2_Missense_Mutation_p.T119K|EYS_ENST00000370618.3_Missense_Mutation_p.T119K|EYS_ENST00000342421.5_Missense_Mutation_p.T119K|EYS_ENST00000370616.2_Missense_Mutation_p.T119K|EYS_ENST00000503581.1_Missense_Mutation_p.T119K			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	119					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.T119K(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATCTTCCGTTGTGGTATTTTG	0.358																																							uc011dxu.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(1)|skin(1)	6						c.(355-357)ACA>AAA		eyes shut homolog isoform 1							76.0	71.0	73.0					6																	66204948		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66204948G>T		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.356C>A	6.37:g.66204948G>T	ENSP00000359655:p.Thr119Lys					EYS_uc003peq.2_Missense_Mutation_p.T119K|EYS_uc003per.1_Missense_Mutation_p.T119K|EYS_uc010kaj.1_RNA	p.T119K	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN			4	894	-			119					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.356C>A		.	.	.	.	.	.	.	.	.	.	G	14.05	2.420630	0.42918	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.89746	-1.53;-1.52;-1.52;-2.56;-2.52;-2.52	4.92	-0.594	0.11664	.	.	.	.	.	T	0.59088	0.2168	N	0.19112	0.55	0.09310	N	1	B;P;P	0.44734	0.218;0.822;0.842	B;B;B	0.38225	0.124;0.268;0.138	T	0.58526	-0.7621	9	0.45353	T	0.12	.	0.9836	0.01441	0.2723:0.2849:0.297:0.1458	.	119;119;119	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	K	119	ENSP00000424243:T119K;ENSP00000359655:T119K;ENSP00000359650:T119K;ENSP00000377042:T119K;ENSP00000341818:T119K;ENSP00000359652:T119K	ENSP00000341818:T119K	T	-	2	0	EYS	66261669	0.000000	0.05858	0.007000	0.13788	0.709000	0.40893	0.930000	0.28858	0.167000	0.19631	0.591000	0.81541	ACA		0.358	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		45	120	1	0	1.76056e-25	0.011902	2.33155e-25	45	120				
BAI3	577	broad.mit.edu	37	6	70071247	70071247	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:70071247T>A	ENST00000370598.1	+	29	4903	c.4082T>A	c.(4081-4083)aTg>aAg	p.M1361K	BAI3_ENST00000546190.1_Missense_Mutation_p.M325K|BAI3_ENST00000238918.8_Missense_Mutation_p.M567K	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1361					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.M1361K(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CAGTTCAATATGAACTTAGAG	0.433																																							uc003pev.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(4081-4083)ATG>AAG		brain-specific angiogenesis inhibitor 3							111.0	114.0	113.0					6																	70071247		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70071247T>A	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.4082T>A	6.37:g.70071247T>A	ENSP00000359630:p.Met1361Lys					BAI3_uc010kak.2_Missense_Mutation_p.M1361K|BAI3_uc011dxx.1_Missense_Mutation_p.M567K	p.M1361K	NM_001704	NP_001695	O60242	BAI3_HUMAN			29	4530	+		all_lung(197;0.212)	1361			Cytoplasmic (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.4082T>A	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.994684	0.35226	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.05025	3.51;3.51;3.51	5.8	4.61	0.57282	.	0.104717	0.64402	D	0.000001	T	0.01661	0.0053	N	0.14661	0.345	0.41392	D	0.987629	B;B	0.27498	0.009;0.18	B;B	0.23018	0.011;0.043	T	0.50915	-0.8771	10	0.36615	T	0.2	.	13.0412	0.58899	0.0:0.0:0.1345:0.8655	.	567;1361	B7Z356;O60242	.;BAI3_HUMAN	K	1361;567;325	ENSP00000359630:M1361K;ENSP00000238918:M567K;ENSP00000441821:M325K	ENSP00000238918:M567K	M	+	2	0	BAI3	70127968	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.698000	0.84413	1.004000	0.39156	0.529000	0.55759	ATG		0.433	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			33	141	0	0	0	0.015359	0	33	141				
SMAP1	60682	broad.mit.edu	37	6	71562317	71562318	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:71562317_71562318GG>TT	ENST00000370455.3	+	8	987_988	c.739_740GG>TT	c.(739-741)GGa>TTa	p.G247L	SMAP1_ENST00000316999.5_Missense_Mutation_p.G220L|SMAP1_ENST00000370452.3_Missense_Mutation_p.G220L	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	247					positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.G247L(1)|p.G220L(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						GGACATCTTTGGACCGATGATT	0.455																																							uc003pfr.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(739-741)GGA>TTA		stromal membrane-associated GTPase-activating																																				SO:0001583	missense	60682				regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr6:71562317_71562318GG>TT	AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"""ADP-ribosylation factor GTPase activating proteins"""	19651	protein-coding gene	gene with protein product		611372	"""stromal membrane-associated protein 1"", ""stromal membrane-associated GTPase-activating protein 1"""			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	Exception_encountered	6.37:g.71562317_71562318delinsTT	ENSP00000359484:p.Gly247Leu					SMAP1_uc003pfs.2_Missense_Mutation_p.G220L|SMAP1_uc010kao.2_Missense_Mutation_p.G220L|SMAP1_uc010kap.2_Missense_Mutation_p.G237L	p.G247L	NM_001044305	NP_001037770	Q8IYB5	SMAP1_HUMAN			8	987_988	+			247					Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Missense_Mutation	DNP	ENST00000370455.3	37	c.739_740GG>TT	CCDS43478.1																																																																																				0.455	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041149.1	NM_001044305		10	281	0	0	0	0.004672	0	10	281				
KHDC3L	154288	broad.mit.edu	37	6	74072525	74072525	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:74072525G>A	ENST00000370367.3	+	1	126	c.73G>A	c.(73-75)Ggt>Agt	p.G25S		NM_001017361.2	NP_001017361.1	Q587J8	KHD3L_HUMAN	KH domain containing 3-like, subcortical maternal complex member	25							RNA binding (GO:0003723)	p.G25S(2)|p.G25R(1)									GGAGGTGCTCGGTCACCTCCC	0.577																																							uc003pgt.3		NA																	3	Substitution - Missense(3)		lung(3)	skin(2)	2						c.(73-75)GGT>AGT		hypothetical protein LOC154288							98.0	91.0	93.0					6																	74072525		2203	4300	6503	SO:0001583	missense	154288							g.chr6:74072525G>A	AB211062	CCDS34484.1	6q13	2012-06-25	2012-06-25	2012-06-25	ENSG00000203908	ENSG00000203908			33699	protein-coding gene	gene with protein product	"""ES cell associated transcript 1"""	611687	"""chromosome 6 open reading frame 221"""	C6orf221		21885028	Standard	NM_001017361		Approved	ECAT1	uc003pgt.4	Q587J8	OTTHUMG00000015024	ENST00000370367.3:c.73G>A	6.37:g.74072525G>A	ENSP00000359392:p.Gly25Ser						p.G25S	NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN			1	126	+			25					B2RNW7	Missense_Mutation	SNP	ENST00000370367.3	37	c.73G>A	CCDS34484.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.882882	0.51908	.	.	ENSG00000203908	ENST00000370367	T	0.60040	0.22	3.43	0.365	0.16131	.	0.000000	0.40144	N	0.001170	T	0.38612	0.1047	L	0.27053	0.805	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.21042	-1.0257	10	0.46703	T	0.11	-2.5869	3.2351	0.06762	0.2794:0.2233:0.4974:0.0	.	25	Q587J8	ECAT1_HUMAN	S	25	ENSP00000359392:G25S	ENSP00000359392:G25S	G	+	1	0	C6orf221	74129246	0.006000	0.16342	0.000000	0.03702	0.005000	0.04900	0.578000	0.23773	0.064000	0.16427	0.561000	0.74099	GGT		0.577	KHDC3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041202.3	NM_001017361		22	78	0	0	0	0.010504	0	22	78				
EEF1A1	1915	broad.mit.edu	37	6	74228549	74228549	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:74228549T>C	ENST00000316292.9	-	4	1635	c.644A>G	c.(643-645)aAa>aGa	p.K215R	EEF1A1_ENST00000309268.6_Missense_Mutation_p.K215R|EEF1A1_ENST00000331523.2_Missense_Mutation_p.K215R|EEF1A1_ENST00000491404.1_Intron	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	215	tr-type G.				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)	p.K215R(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						ACGGGTGACTTTCCATCCCTT	0.502											OREG0003891|OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																											uc003phi.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(643-645)AAA>AGA		eukaryotic translation elongation factor 1 alpha							91.0	85.0	87.0					6																	74228549		2203	4300	6503	SO:0001583	missense	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74228549T>C	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.644A>G	6.37:g.74228549T>C	ENSP00000339063:p.Lys215Arg		OREG0003895|OREG0003891	type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1151	EEF1A1_uc003phd.2_5'Flank|EEF1A1_uc003phe.2_Missense_Mutation_p.K205R|EEF1A1_uc003phf.2_Missense_Mutation_p.K215R|EEF1A1_uc003phg.2_Missense_Mutation_p.K215R|EEF1A1_uc003phh.2_Missense_Mutation_p.K61R|EEF1A1_uc003phj.2_Missense_Mutation_p.K215R|EEF1A1_uc003phk.2_Missense_Mutation_p.K215R|EEF1A1_uc003phl.2_Intron|EEF1A1_uc003phm.1_Intron	p.K215R	NM_001402	NP_001393	P68104	EF1A1_HUMAN			4	681	-			215					P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	c.644A>G	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	T	15.36	2.811143	0.50527	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977	T;T;T	0.40756	1.02;1.02;1.02	4.31	4.31	0.51392	Protein synthesis factor, GTP-binding (2);	0.057370	0.64402	U	0.000002	T	0.48277	0.1491	M	0.72894	2.215	0.58432	D	0.999999	P;B;P;B	0.46621	0.881;0.006;0.881;0.036	P;B;P;B	0.56216	0.794;0.069;0.794;0.108	T	0.54892	-0.8225	10	0.66056	D	0.02	.	13.8286	0.63366	0.0:0.0:0.0:1.0	.	215;215;215;215	P68104;Q53HR5;Q6IPS9;Q5VTE0	EF1A1_HUMAN;.;.;EF1A3_HUMAN	R	215;215;215;215;194	ENSP00000339063:K215R;ENSP00000339053:K215R;ENSP00000330054:K215R	ENSP00000339053:K215R	K	-	2	0	EEF1A1	74285270	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.921000	0.70028	1.719000	0.51432	0.449000	0.29647	AAA		0.502	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		32	51	0	0	0	0.010818	0	32	51				
IMPG1	3617	broad.mit.edu	37	6	76728444	76728444	+	Silent	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:76728444G>A	ENST00000369950.3	-	7	987	c.798C>T	c.(796-798)tcC>tcT	p.S266S	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.S266S(2)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CCTGAAGTTGGGACTTTCCTG	0.547																																					Pancreas(37;839 1141 2599 26037)	Pancreas(37;839 1141 2599 26037)	uc003pik.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(796-798)TCC>TCT		interphotoreceptor matrix proteoglycan 1							152.0	141.0	145.0					6																	76728444		2203	4300	6503	SO:0001819	synonymous_variant	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76728444G>A	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.798C>T	6.37:g.76728444G>A							p.S266S	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			7	928	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	266			SEA 1.			Silent	SNP	ENST00000369950.3	37	c.798C>T	CCDS4985.1																																																																																				0.547	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		27	153	0	0	0	0.00632	0	27	153				
TBX18	9096	broad.mit.edu	37	6	85446428	85446428	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:85446428G>C	ENST00000369663.5	-	8	2136	c.1799C>G	c.(1798-1800)tCt>tGt	p.S600C	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	600					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.S600C(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		AGATACTTGAGATGATGACAG	0.413																																							uc003pkl.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(2)|lung(1)	5						c.(1798-1800)TCT>TGT		T-box 18							61.0	61.0	61.0					6																	85446428		2203	4300	6503	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85446428G>C	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1799C>G	6.37:g.85446428G>C	ENSP00000358677:p.Ser600Cys					TBX18_uc010kbq.1_Intron	p.S600C	NM_001080508	NP_001073977	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	8	1799	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	600					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.1799C>G	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715162	0.48622	.	.	ENSG00000112837	ENST00000369663	D	0.93811	-3.29	5.53	5.53	0.82687	.	0.100521	0.64402	D	0.000003	D	0.94555	0.8246	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.94999	0.8141	10	0.87932	D	0	.	19.8132	0.96556	0.0:0.0:1.0:0.0	.	600	O95935	TBX18_HUMAN	C	600	ENSP00000358677:S600C	ENSP00000358677:S600C	S	-	2	0	TBX18	85503147	1.000000	0.71417	1.000000	0.80357	0.270000	0.26580	8.950000	0.93019	2.753000	0.94483	0.585000	0.79938	TCT		0.413	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		35	58	0	0	0	0.013726	0	35	58				
ZNF292	23036	broad.mit.edu	37	6	87968870	87968870	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:87968870A>T	ENST00000369577.3	+	8	5566	c.5523A>T	c.(5521-5523)ttA>ttT	p.L1841F	ZNF292_ENST00000339907.4_Missense_Mutation_p.L1836F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1841						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.L1696F(2)|p.L1841F(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AGGAAATTTTAGAAGGCTTAC	0.373																																							uc003plm.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(4)	4						c.(5521-5523)TTA>TTT		zinc finger protein 292							28.0	29.0	29.0					6																	87968870		1849	4086	5935	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87968870A>T	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.5523A>T	6.37:g.87968870A>T	ENSP00000358590:p.Leu1841Phe						p.L1841F	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	5564	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1841			Potential.		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.5523A>T	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	A	13.65	2.301415	0.40694	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.14516	2.5;2.52	5.86	3.23	0.37069	.	0.264721	0.34700	N	0.003758	T	0.09992	0.0245	L	0.29908	0.895	0.30570	N	0.763599	D	0.71674	0.998	P	0.61940	0.896	T	0.03630	-1.1018	10	0.59425	D	0.04	.	8.3328	0.32197	0.7689:0.0:0.2311:0.0	.	1841	O60281	ZN292_HUMAN	F	1841;1836	ENSP00000358590:L1841F;ENSP00000342847:L1836F	ENSP00000342847:L1836F	L	+	3	2	ZNF292	88025589	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	2.399000	0.44495	1.149000	0.42402	0.528000	0.53228	TTA		0.373	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		15	31	0	0	0	0.020292	0	15	31				
GJA10	84694	broad.mit.edu	37	6	90604983	90604983	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:90604983G>T	ENST00000369352.1	+	1	796	c.796G>T	c.(796-798)Gtg>Ttg	p.V266L		NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	0					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.V266L(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GAAATATTCTGTGGCCCAGCA	0.413																																							uc011eaa.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(796-798)GTG>TTG		gap junction protein, alpha 10							84.0	76.0	79.0					6																	90604983		2203	4300	6503	SO:0001583	missense	84694				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr6:90604983G>T	AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.796G>T	6.37:g.90604983G>T	ENSP00000358358:p.Val266Leu						p.V266L	NM_032602	NP_115991	Q969M2	CXA10_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0915)	1	796	+		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	266			Cytoplasmic (Potential).		B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000369352.1	37	c.796G>T	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.982596	0.34942	.	.	ENSG00000135355	ENST00000369352	D	0.97688	-4.49	5.07	5.07	0.68467	.	1.096260	0.07034	N	0.828918	D	0.92492	0.7616	L	0.54323	1.7	0.28174	N	0.928443	B	0.27117	0.168	B	0.20184	0.028	D	0.83663	0.0162	10	0.10377	T	0.69	.	12.0233	0.53356	0.0783:0.0:0.9217:0.0	.	266	Q969M2	CXA10_HUMAN	L	266	ENSP00000358358:V266L	ENSP00000358358:V266L	V	+	1	0	GJA10	90661704	1.000000	0.71417	0.191000	0.23289	0.644000	0.38419	3.634000	0.54302	2.648000	0.89879	0.563000	0.77884	GTG		0.413	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602		23	69	1	0	5.35356e-11	0.016522	6.22728e-11	23	69				
UFL1	23376	broad.mit.edu	37	6	96999336	96999336	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:96999336T>A	ENST00000369278.4	+	16	1912	c.1846T>A	c.(1846-1848)Tca>Aca	p.S616T		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	616					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										AAGTAAATTATCAGAAGAAAC	0.299																																							uc003por.2		NA																	0				ovary(1)	1						c.(1846-1848)TCA>ACA		hypothetical protein LOC23376							44.0	52.0	49.0					6																	96999336		2192	4277	6469	SO:0001583	missense	23376				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	g.chr6:96999336T>A	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.1846T>A	6.37:g.96999336T>A	ENSP00000358283:p.Ser616Thr					KIAA0776_uc010kck.2_RNA	p.S616T	NM_015323	NP_056138	O94874	UFL1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0934)	16	1894	+		all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721)	616					A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP	ENST00000369278.4	37	c.1846T>A	CCDS5034.1	.	.	.	.	.	.	.	.	.	.	T	13.00	2.105053	0.37145	.	.	ENSG00000014123	ENST00000369278	T	0.44881	0.91	5.3	0.23	0.15372	.	0.430128	0.26241	N	0.025505	T	0.12347	0.0300	L	0.46157	1.445	0.24240	N	0.995362	B	0.02656	0.0	B	0.04013	0.001	T	0.17684	-1.0361	10	0.44086	T	0.13	-1.7485	3.2067	0.06669	0.306:0.299:0.0:0.3951	.	616	O94874	UFL1_HUMAN	T	616	ENSP00000358283:S616T	ENSP00000358283:S616T	S	+	1	0	KIAA0776	97106057	0.833000	0.29383	1.000000	0.80357	0.982000	0.71751	0.254000	0.18314	0.296000	0.22592	0.533000	0.62120	TCA		0.299	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323		5	112	0	0	0	0.014758	0	5	112				
MMS22L	253714	broad.mit.edu	37	6	97597755	97597755	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:97597755C>T	ENST00000275053.4	-	24	3889	c.3624G>A	c.(3622-3624)tgG>tgA	p.W1208*	MMS22L_ENST00000369251.2_Nonsense_Mutation_p.W1168*	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1208					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)		p.W1208*(2)		breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGCCAAGGCCCCATTTCTGCT	0.363																																							uc003ppb.2		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(3622-3624)TGG>TGA		hypothetical protein LOC253714							81.0	76.0	78.0					6																	97597755		2203	4300	6503	SO:0001587	stop_gained	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97597755C>T		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.3624G>A	6.37:g.97597755C>T	ENSP00000275053:p.Trp1208*					C6orf167_uc011eaf.1_Nonsense_Mutation_p.W1168*	p.W1208*	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0457)	24	3890	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)	1208					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Nonsense_Mutation	SNP	ENST00000275053.4	37	c.3624G>A	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	C	42	9.806611	0.99268	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	.	.	.	5.98	2.73	0.32206	.	0.357915	0.30850	N	0.008757	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-14.8767	1.3769	0.02222	0.4463:0.2478:0.178:0.1279	.	.	.	.	X	1208;1168	.	ENSP00000275053:W1208X	W	-	3	0	MMS22L	97704476	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.793000	0.38764	0.790000	0.33803	0.655000	0.94253	TGG		0.363	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		14	57	0	0	0	0.020292	0	14	57				
MCHR2	84539	broad.mit.edu	37	6	100395759	100395759	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:100395759G>A	ENST00000281806.2	-	3	585	c.271C>T	c.(271-273)Cac>Tac	p.H91Y	MCHR2_ENST00000369212.2_Missense_Mutation_p.H91Y	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.H91Y(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GCCCATTGGTGAATAAGAAAA	0.483																																							uc003pqh.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8						c.(271-273)CAC>TAC		melanin-concentrating hormone receptor 2							94.0	96.0	96.0					6																	100395759		2203	4300	6503	SO:0001583	missense	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100395759G>A	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.271C>T	6.37:g.100395759G>A	ENSP00000281806:p.His91Tyr					MCHR2_uc003pqi.1_Missense_Mutation_p.H91Y	p.H91Y	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	3	586	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	91			Extracellular (Potential).		B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	ENST00000281806.2	37	c.271C>T	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.391604	0.62066	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.36699	1.24;1.24;1.24	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.14056	0.0340	L	0.41236	1.265	0.42732	D	0.993714	B	0.32653	0.379	B	0.34038	0.174	T	0.03630	-1.1018	10	0.05959	T	0.93	.	15.9515	0.79843	0.0:0.0:1.0:0.0	.	91	Q969V1	MCHR2_HUMAN	Y	91	ENSP00000403490:H91Y;ENSP00000281806:H91Y;ENSP00000358214:H91Y	ENSP00000281806:H91Y	H	-	1	0	MCHR2	100502480	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.502000	0.73695	2.089000	0.63090	0.650000	0.86243	CAC		0.483	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		35	143	0	0	0	0.013726	0	35	143				
SIM1	6492	broad.mit.edu	37	6	100838954	100838954	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:100838954C>A	ENST00000369208.3	-	12	2366	c.1584G>T	c.(1582-1584)tgG>tgT	p.W528C	SIM1_ENST00000262901.4_Missense_Mutation_p.W528C			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	528	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.W528C(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TATCTTCATCCCAATGACCTC	0.403																																							uc003pqj.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(1582-1584)TGG>TGT		single-minded homolog 1							54.0	56.0	55.0					6																	100838954		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100838954C>A	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1584G>T	6.37:g.100838954C>A	ENSP00000358210:p.Trp528Cys					SIM1_uc010kcu.2_Missense_Mutation_p.W528C	p.W528C	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	11	1791	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	528			Single-minded C-terminal.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.1584G>T	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.321391	0.60634	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.34667	1.35;1.35	5.9	5.03	0.67393	Single-minded, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.34483	0.0899	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.25502	-1.0130	10	0.46703	T	0.11	.	14.9099	0.70749	0.0:0.9318:0.0:0.0682	.	528	P81133	SIM1_HUMAN	C	528	ENSP00000358210:W528C;ENSP00000262901:W528C	ENSP00000262901:W528C	W	-	3	0	SIM1	100945675	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	1.496000	0.48567	0.650000	0.86243	TGG		0.403	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		20	94	1	0	1.10513e-12	0.014323	1.32481e-12	20	94				
SIM1	6492	broad.mit.edu	37	6	100897259	100897259	+	Missense_Mutation	SNP	G	G	A	rs438766	byFrequency	TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:100897259G>A	ENST00000369208.3	-	6	1305	c.523C>T	c.(523-525)Ctc>Ttc	p.L175F	SIM1_ENST00000262901.4_Missense_Mutation_p.L175F			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	175			L -> F (in dbSNP:rs438766).		cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCACAGGTGAGGCCGGCGTTA	0.622																																							uc003pqj.3		NA																	0				ovary(4)	4						c.(523-525)CTC>TTC		single-minded homolog 1							41.0	37.0	39.0					6																	100897259		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100897259G>A	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.523C>T	6.37:g.100897259G>A	ENSP00000358210:p.Leu175Phe					SIM1_uc010kcu.2_Missense_Mutation_p.L175F	p.L175F	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	5	730	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	175					Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.523C>T	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608981	0.87258	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.23754	1.89;1.89	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.43010	0.1228	M	0.78223	2.4	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.37009	-0.9724	10	0.54805	T	0.06	.	12.7725	0.57429	0.0751:0.0:0.9249:0.0	rs438766;rs52799894;rs438766	175	P81133	SIM1_HUMAN	F	175	ENSP00000358210:L175F;ENSP00000262901:L175F	ENSP00000262901:L175F	L	-	1	0	SIM1	101003980	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.870000	0.56070	2.602000	0.87976	0.655000	0.94253	CTC		0.622	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		4	57	0	0	0	0.014758	0	4	57				
RTN4IP1	84816	broad.mit.edu	37	6	107035616	107035616	+	Nonsense_Mutation	SNP	G	G	A	rs536455406		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:107035616G>A	ENST00000369063.3	-	7	1393	c.928C>T	c.(928-930)Cga>Tga	p.R310*	RTN4IP1_ENST00000539449.1_Intron	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	310						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.R310*(2)		breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		ATGCCCAATCGGTCCATGTTC	0.502																																							uc003prj.2		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(928-930)CGA>TGA		reticulon 4 interacting protein 1 precursor							126.0	115.0	119.0					6																	107035616		2203	4300	6503	SO:0001587	stop_gained	84816					mitochondrion	oxidoreductase activity|zinc ion binding	g.chr6:107035616G>A	AF336861	CCDS5056.1	6q21	2008-02-05			ENSG00000130347	ENSG00000130347			18647	protein-coding gene	gene with protein product		610502					Standard	NM_032730		Approved	NIMP	uc003prj.3	Q8WWV3	OTTHUMG00000015304	ENST00000369063.3:c.928C>T	6.37:g.107035616G>A	ENSP00000358059:p.Arg310*					RTN4IP1_uc010kdd.2_Intron|RTN4IP1_uc003prk.2_Nonsense_Mutation_p.R210*	p.R310*	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)	7	1405	-	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	310					Q8N9B3|Q8WZ66|Q9BRA4	Nonsense_Mutation	SNP	ENST00000369063.3	37	c.928C>T	CCDS5056.1	.	.	.	.	.	.	.	.	.	.	G	37	6.214191	0.97380	.	.	ENSG00000130347	ENST00000369063	.	.	.	6.16	3.21	0.36854	.	0.667620	0.15366	N	0.266139	.	.	.	.	.	.	0.50171	D	0.999854	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-2.4839	14.9325	0.70926	0.0:0.0:0.5143:0.4857	.	.	.	.	X	310	.	ENSP00000358059:R310X	R	-	1	2	RTN4IP1	107142309	0.910000	0.30920	0.829000	0.32907	0.202000	0.24057	1.308000	0.33528	0.886000	0.36113	-0.188000	0.12872	CGA		0.502	RTN4IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041673.1			39	75	0	0	0	0.005524	0	39	75				
HDAC2	3066	broad.mit.edu	37	6	114277837	114277837	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:114277837G>C	ENST00000519065.1	-	4	680	c.304C>G	c.(304-306)Cca>Gca	p.P102A	HDAC2_ENST00000398283.2_Missense_Mutation_p.P196A|HDAC2_ENST00000519108.1_Missense_Mutation_p.P72A|HDAC2_ENST00000368632.2_Missense_Mutation_p.P72A			Q92769	HDAC2_HUMAN	histone deacetylase 2	102	Histone deacetylase.				ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|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)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.P196A(1)|p.P102A(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	TCAAACACTGGACAATCTTCT	0.363																																							uc003pwd.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(586-588)CCA>GCA		histone deacetylase 2	Vorinostat(DB02546)						71.0	68.0	69.0					6																	114277837		1860	4097	5957	SO:0001583	missense	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114277837G>C	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.304C>G	6.37:g.114277837G>C	ENSP00000430432:p.Pro102Ala					HDAC2_uc003pwc.1_Missense_Mutation_p.P72A|HDAC2_uc003pwe.1_Missense_Mutation_p.P72A	p.P196A	NM_001527	NP_001518	Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	4	586	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	102			Histone deacetylase.		B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Missense_Mutation	SNP	ENST00000519065.1	37	c.586C>G	CCDS43493.2	.	.	.	.	.	.	.	.	.	.	G	33	5.275593	0.95459	.	.	ENSG00000196591	ENST00000519065;ENST00000398283;ENST00000519108;ENST00000368632;ENST00000425835;ENST00000523628;ENST00000521610;ENST00000522371;ENST00000521163	T;T;T;T;T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;1.34;1.34;1.34;1.34;1.34	5.87	5.87	0.94306	Histone deacetylase domain (2);	0.000000	0.64402	D	0.000001	D	0.91891	0.7433	H	0.98314	4.2	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.76071	0.987;0.9	D	0.94235	0.7480	10	0.87932	D	0	-8.3564	20.2147	0.98293	0.0:0.0:1.0:0.0	.	72;102	B3KRS5;Q92769	.;HDAC2_HUMAN	A	102;196;72;72;92;72;72;72;109	ENSP00000430432:P102A;ENSP00000381331:P196A;ENSP00000430008:P72A;ENSP00000357621:P72A;ENSP00000417026:P92A;ENSP00000427861:P72A;ENSP00000429901:P72A;ENSP00000428599:P72A;ENSP00000428024:P109A	ENSP00000357621:P72A	P	-	1	0	HDAC2	114384530	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.549000	0.98106	2.785000	0.95823	0.591000	0.81541	CCA		0.363	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			7	55	0	0	0	0.00308	0	7	55				
THEMIS	387357	broad.mit.edu	37	6	128134623	128134623	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:128134623T>A	ENST00000368248.2	-	4	1311	c.1163A>T	c.(1162-1164)cAg>cTg	p.Q388L	THEMIS_ENST00000368250.1_Missense_Mutation_p.Q309L|THEMIS_ENST00000543064.1_Missense_Mutation_p.Q388L|THEMIS_ENST00000537166.1_Missense_Mutation_p.Q353L	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	388	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q388L(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CACCAGAAACTGGTCCCCAAC	0.468																																							uc003qbi.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(1162-1164)CAG>CTG		thymocyte selection pathway associated isoform							91.0	92.0	92.0					6																	128134623		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134623T>A	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1163A>T	6.37:g.128134623T>A	ENSP00000357231:p.Gln388Leu					THEMIS_uc010kfa.2_Missense_Mutation_p.Q291L|THEMIS_uc011ebt.1_Missense_Mutation_p.Q388L|THEMIS_uc010kfb.2_Missense_Mutation_p.Q353L	p.Q388L	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN			5	1482	-			388			CABIT 2.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.1163A>T	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.957934	0.53400	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.15372	2.43;2.43;2.43;2.43	5.69	4.53	0.55603	.	0.207171	0.43260	D	0.000599	T	0.19846	0.0477	M	0.69823	2.125	0.38265	D	0.941991	P;P	0.52061	0.95;0.822	P;P	0.53185	0.72;0.583	T	0.02307	-1.1179	10	0.72032	D	0.01	-3.8311	11.3514	0.49589	0.0:0.0707:0.0:0.9293	.	388;388	F5H1J9;Q8N1K5	.;THMS1_HUMAN	L	309;388;388;353	ENSP00000357233:Q309L;ENSP00000439594:Q388L;ENSP00000357231:Q388L;ENSP00000439863:Q353L	ENSP00000357231:Q388L	Q	-	2	0	THEMIS	128176316	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	4.751000	0.62169	0.993000	0.38866	0.460000	0.39030	CAG		0.468	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		24	81	0	0	0	0.01892	0	24	81				
NMBR	4829	broad.mit.edu	37	6	142397123	142397123	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:142397123A>T	ENST00000258042.1	-	3	975	c.835T>A	c.(835-837)Tgg>Agg	p.W279R	NMBR_ENST00000480652.1_5'Flank	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	279					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)	p.W279R(2)		breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TTTGGAAACCAACAGAAGATG	0.413																																							uc003qiu.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(3)|breast(1)	4						c.(835-837)TGG>AGG		neuromedin B receptor							77.0	67.0	70.0					6																	142397123		2203	4300	6503	SO:0001583	missense	4829				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	g.chr6:142397123A>T		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"""GPCR / Class A : Bombesin receptors"""	7843	protein-coding gene	gene with protein product	"""bombesin receptor 1"""	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.835T>A	6.37:g.142397123A>T	ENSP00000258042:p.Trp279Arg						p.W279R	NM_002511	NP_002502	P28336	NMBR_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)	3	976	-	Breast(32;0.155)		279			Helical; Name=6; (Potential).		E9KL38|Q5VUK8	Missense_Mutation	SNP	ENST00000258042.1	37	c.835T>A	CCDS5196.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.152538	0.78001	.	.	ENSG00000135577	ENST00000258042	T	0.81330	-1.48	5.11	5.11	0.69529	GPCR, rhodopsin-like superfamily (1);	0.055638	0.85682	D	0.000000	D	0.91915	0.7440	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94438	0.7656	10	0.87932	D	0	-13.3112	15.2015	0.73142	1.0:0.0:0.0:0.0	.	279	P28336	NMBR_HUMAN	R	279	ENSP00000258042:W279R	ENSP00000258042:W279R	W	-	1	0	NMBR	142438816	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.905000	0.92613	2.049000	0.60858	0.533000	0.62120	TGG		0.413	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1			38	59	0	0	0	0.019004	0	38	59				
HIVEP2	3097	broad.mit.edu	37	6	143080972	143080972	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:143080972G>C	ENST00000367604.1	-	8	7092	c.6453C>G	c.(6451-6453)taC>taG	p.Y2151*	HIVEP2_ENST00000012134.2_Nonsense_Mutation_p.Y2151*|HIVEP2_ENST00000367603.2_Nonsense_Mutation_p.Y2151*			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2151					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.Y2151*(2)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GTGGGTTATGGTATAAAGCCC	0.438																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	Esophageal Squamous(107;843 1510 13293 16805 42198)	uc003qjd.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(6451-6453)TAC>TAG		human immunodeficiency virus type I enhancer							186.0	172.0	176.0					6																	143080972		1897	4116	6013	SO:0001587	stop_gained	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143080972G>C	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.6453C>G	6.37:g.143080972G>C	ENSP00000356576:p.Tyr2151*						p.Y2151*	NM_006734	NP_006725	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	9	7196	-			2151					Q02646|Q5THT5|Q9NS05	Nonsense_Mutation	SNP	ENST00000367604.1	37	c.6453C>G	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	50	17.188337	0.99881	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	.	.	.	5.83	1.52	0.23074	.	0.241191	0.44902	D	0.000416	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.3455	11.2861	0.49222	0.3128:0.0:0.6872:0.0	.	.	.	.	X	2151	.	ENSP00000012134:Y2151X	Y	-	3	2	HIVEP2	143122665	1.000000	0.71417	0.988000	0.46212	0.955000	0.61496	1.560000	0.36331	0.381000	0.24851	0.585000	0.79938	TAC		0.438	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			23	90	0	0	0	0.016522	0	23	90				
CCDC170	80129	broad.mit.edu	37	6	151894422	151894422	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:151894422C>A	ENST00000239374.7	+	6	987	c.888C>A	c.(886-888)agC>agA	p.S296R	CCDC170_ENST00000367290.5_Missense_Mutation_p.S296R	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	296								p.S296R(2)									AGGAAGTGAGCCTCCTGAAGA	0.473																																							uc003qol.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(886-888)AGC>AGA		hypothetical protein LOC80129							70.0	73.0	72.0					6																	151894422		1963	4157	6120	SO:0001583	missense	80129							g.chr6:151894422C>A	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.888C>A	6.37:g.151894422C>A	ENSP00000239374:p.Ser296Arg						p.S296R	NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)	6	977	+		Ovarian(120;0.126)	296					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.888C>A	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	C	0.894	-0.724413	0.03158	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.12361	2.69;2.69	5.46	1.66	0.24008	.	0.567823	0.20989	N	0.082071	T	0.03651	0.0104	L	0.53249	1.67	0.09310	N	1	B	0.22909	0.077	B	0.17722	0.019	T	0.43048	-0.9415	10	0.18710	T	0.47	-1.2202	7.4701	0.27344	0.0:0.5828:0.2282:0.189	.	296	Q8IYT3	CF097_HUMAN	R	296	ENSP00000239374:S296R;ENSP00000356259:S296R	ENSP00000239374:S296R	S	+	3	2	C6orf97	151936115	0.005000	0.15991	0.026000	0.17262	0.122000	0.20287	0.146000	0.16180	0.374000	0.24650	-0.134000	0.14843	AGC		0.473	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		17	47	1	0	9.16793e-09	0.00499	1.04018e-08	17	47				
MAS1	4142	broad.mit.edu	37	6	160328002	160328002	+	Missense_Mutation	SNP	C	C	G	rs549158090		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:160328002C>G	ENST00000252660.4	+	1	29	c.15C>G	c.(13-15)aaC>aaG	p.N5K		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 proto-oncogene, G protein-coupled receptor	5					activation of NF-kappaB-inducing kinase activity (GO:0007250)|anatomical structure morphogenesis (GO:0009653)|cell proliferation (GO:0008283)|cellular response to peptide hormone stimulus (GO:0071375)|G-protein coupled receptor signaling pathway (GO:0007186)|hippocampus development (GO:0021766)|male gonad development (GO:0008584)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|protein kinase C signaling (GO:0070528)|regulation of inflammatory response (GO:0050727)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin receptor activity (GO:0001595)|angiotensin type II receptor activity (GO:0004945)|G-protein coupled receptor activity (GO:0004930)|peptide binding (GO:0042277)|peptide hormone binding (GO:0017046)	p.N5K(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		ATGGGTCAAACGTGACATCAT	0.458																																							uc003qsz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)	4						c.(13-15)AAC>AAG		MAS1 oncogene							96.0	86.0	90.0					6																	160328002		2203	4300	6503	SO:0001583	missense	4142				anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity	g.chr6:160328002C>G	M13150	CCDS5272.1	6q24-q27	2014-06-26	2014-06-26		ENSG00000130368	ENSG00000130368		"""GPCR / Class A : Orphans"""	6899	protein-coding gene	gene with protein product		165180	"""MAS1 oncogene"""				Standard	NM_002377		Approved		uc003qsz.3	P04201	OTTHUMG00000015944	ENST00000252660.4:c.15C>G	6.37:g.160328002C>G	ENSP00000252660:p.Asn5Lys						p.N5K	NM_002377	NP_002368	P04201	MAS_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)	1	29	+		Breast(66;0.000776)|Ovarian(120;0.0303)	5			Extracellular (Potential).		E1P5B3|Q2TBC9|Q6FG47	Missense_Mutation	SNP	ENST00000252660.4	37	c.15C>G	CCDS5272.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.576446	0.45902	.	.	ENSG00000130368	ENST00000252660	T	0.20881	2.04	5.45	1.28	0.21552	.	0.277814	0.24783	N	0.035625	T	0.15219	0.0367	L	0.29908	0.895	0.09310	N	0.999999	D	0.76494	0.999	D	0.81914	0.995	T	0.14364	-1.0475	10	0.54805	T	0.06	.	9.1884	0.37184	0.0:0.6152:0.0:0.3848	.	5	P04201	MAS_HUMAN	K	5	ENSP00000252660:N5K	ENSP00000252660:N5K	N	+	3	2	MAS1	160247992	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	-0.199000	0.09491	-0.309000	0.08779	-0.797000	0.03246	AAC		0.458	MAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042930.2	NM_002377		5	135	0	0	0	0.014758	0	5	135				
PACRG	135138	broad.mit.edu	37	6	163483243	163483243	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:163483243A>C	ENST00000337019.3	+	4	577	c.353A>C	c.(352-354)gAa>gCa	p.E118A	PACRG_ENST00000366889.2_Missense_Mutation_p.E118A|PACRG_ENST00000366888.2_Missense_Mutation_p.E118A	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	118					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)		p.E118A(2)		endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		GGGCTTTGTGAAATGACATTT	0.433																																							uc003qua.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(352-354)GAA>GCA		parkin co-regulated gene protein isoform 1							106.0	106.0	106.0					6																	163483243		2203	4300	6503	SO:0001583	missense	135138							g.chr6:163483243A>C	AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.353A>C	6.37:g.163483243A>C	ENSP00000337946:p.Glu118Ala					PACRG_uc003qub.2_Missense_Mutation_p.E118A|PACRG_uc003quc.2_Missense_Mutation_p.E118A	p.E118A	NM_152410	NP_689623	Q96M98	PACRG_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)	4	577	+		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)	118					E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Missense_Mutation	SNP	ENST00000337019.3	37	c.353A>C	CCDS5284.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.8|22.8	4.336292|4.336292	0.81801|0.81801	.|.	.|.	ENSG00000112530|ENSG00000112530	ENST00000337019;ENST00000366889;ENST00000366888|ENST00000534958	T|.	0.67865|.	-0.29|.	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.81795|.	0.4898|.	M|M	0.92555|0.92555	3.32|3.32	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.87578|.	0.976;0.998|.	D|.	0.86773|.	0.1974|.	10|.	0.72032|.	D|.	0.01|.	-21.5759|-21.5759	14.7663|14.7663	0.69642|0.69642	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	118;118|.	Q96M98-2;Q96M98|.	.;PACRG_HUMAN|.	A|C	118|33	ENSP00000337946:E118A|.	ENSP00000337946:E118A|.	E|X	+|+	2|3	0|0	PACRG|PACRG	163403233|163403233	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	8.859000|8.859000	0.92264|0.92264	1.946000|1.946000	0.56461|0.56461	0.496000|0.496000	0.49642|0.49642	GAA|TGA		0.433	PACRG-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400424.1	NM_152410		22	104	0	0	0	0.016522	0	22	104				
TTLL2	83887	broad.mit.edu	37	6	167754837	167754837	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr6:167754837A>T	ENST00000239587.5	+	3	1537	c.1449A>T	c.(1447-1449)gcA>gcT	p.A483A		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	483					cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)	p.A483A(2)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CTGAAGCTGCACCTGCCTCCC	0.517																																							uc003qvs.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1447-1449)GCA>GCT		tubulin tyrosine ligase-like family, member 2							118.0	103.0	108.0					6																	167754837		2203	4300	6503	SO:0001819	synonymous_variant	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167754837A>T	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.1449A>T	6.37:g.167754837A>T						TTLL2_uc011egr.1_RNA	p.A483A	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	1537	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	483					B2RB11|B3KS77|Q7Z6R8|Q86X22	Silent	SNP	ENST00000239587.5	37	c.1449A>T	CCDS5301.1																																																																																				0.517	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		29	112	0	0	0	0.009535	0	29	112				
DGKB	1607	broad.mit.edu	37	7	14661113	14661113	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:14661113G>A	ENST00000403951.2	-	15	1596	c.1177C>T	c.(1177-1179)Caa>Taa	p.Q393*	DGKB_ENST00000402815.1_Nonsense_Mutation_p.Q392*|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Nonsense_Mutation_p.Q393*|DGKB_ENST00000444700.2_Nonsense_Mutation_p.Q374*|DGKB_ENST00000258767.5_Nonsense_Mutation_p.Q393*|DGKB_ENST00000406247.3_Nonsense_Mutation_p.Q393*|DGKB_ENST00000407950.1_Nonsense_Mutation_p.Q385*			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	393					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.Q393*(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						ACTGTTGATTGTCTTTCCTGT	0.294																																							uc003ssz.2		NA																	2	Substitution - Nonsense(2)		lung(2)	lung(5)|ovary(4)|breast(2)|skin(1)	12						c.(1177-1179)CAA>TAA		diacylglycerol kinase, beta isoform 1	Phosphatidylserine(DB00144)						113.0	93.0	99.0					7																	14661113		1803	4061	5864	SO:0001587	stop_gained	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14661113G>A	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1177C>T	7.37:g.14661113G>A	ENSP00000385780:p.Gln393*					DGKB_uc011jxt.1_Nonsense_Mutation_p.Q374*|DGKB_uc003sta.2_Nonsense_Mutation_p.Q393*|DGKB_uc011jxu.1_Nonsense_Mutation_p.Q392*	p.Q393*	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN			14	1364	-			393					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Nonsense_Mutation	SNP	ENST00000403951.2	37	c.1177C>T	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	G	37	6.242581	0.97408	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	.	.	.	4.86	4.86	0.63082	.	0.425927	0.23904	N	0.043410	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	18.3367	0.90290	0.0:0.0:1.0:0.0	.	.	.	.	X	393;393;393;392;385;374;393	.	ENSP00000258767:Q393X	Q	-	1	0	DGKB	14627638	1.000000	0.71417	0.998000	0.56505	0.851000	0.48451	6.554000	0.73923	2.400000	0.81607	0.313000	0.20887	CAA		0.294	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		11	21	0	0	0	0.008291	0	11	21				
C7orf31	136895	broad.mit.edu	37	7	25175779	25175779	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:25175779T>C	ENST00000409280.1	-	10	1893	c.1585A>G	c.(1585-1587)Att>Gtt	p.I529V	C7orf31_ENST00000283905.3_Missense_Mutation_p.I529V			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	529										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						GCTCTAGGAATCCAACCAAGA	0.388																																							uc003sxn.1		NA																	0					0						c.(1585-1587)ATT>GTT		hypothetical protein LOC136895							131.0	124.0	126.0					7																	25175779		2203	4300	6503	SO:0001583	missense	136895							g.chr7:25175779T>C	AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.1585A>G	7.37:g.25175779T>C	ENSP00000386604:p.Ile529Val					C7orf31_uc003sxm.1_Missense_Mutation_p.I371V	p.I529V	NM_138811	NP_620166	Q8N865	CG031_HUMAN			10	2146	-			529					A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Missense_Mutation	SNP	ENST00000409280.1	37	c.1585A>G	CCDS5394.1	.	.	.	.	.	.	.	.	.	.	T	15.77	2.931185	0.52866	.	.	ENSG00000153790	ENST00000409280;ENST00000283905	T;T	0.06218	3.33;3.33	4.97	4.97	0.65823	.	0.086442	0.49305	D	0.000147	T	0.11024	0.0269	M	0.64997	1.995	0.36748	D	0.882577	P	0.50943	0.94	P	0.47402	0.546	T	0.30707	-0.9969	10	0.13470	T	0.59	-18.2417	13.5951	0.61984	0.0:0.0:0.0:1.0	.	529	Q8N865	CG031_HUMAN	V	529	ENSP00000386604:I529V;ENSP00000283905:I529V	ENSP00000283905:I529V	I	-	1	0	C7orf31	25142304	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	3.155000	0.50700	2.158000	0.67659	0.533000	0.62120	ATT		0.388	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	NM_138811		6	224	0	0	0	0.001984	0	6	224				
HNRNPA2B1	3181	broad.mit.edu	37	7	26236615	26236615	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:26236615T>G	ENST00000354667.4	-	5	491	c.323A>C	c.(322-324)cAt>cCt	p.H108P	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.H96P	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	108					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|RNA binding (GO:0003723)|single-stranded telomeric DNA binding (GO:0043047)	p.H108P(2)|p.H96P(2)	HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CACAGTTACATGAGCCCCTGG	0.383			T	ETV1	prostate																																		uc003sxr.3		NA		Dom	yes		7	7p15	3181	T	heterogeneous nuclear ribonucleoprotein A2/B1			E	ETV1		prostate		4	Substitution - Missense(4)		lung(4)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(322-324)CAT>CCT		heterogeneous nuclear ribonucleoprotein A2/B1							115.0	117.0	117.0					7																	26236615		2203	4300	6503	SO:0001583	missense	3181				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding	g.chr7:26236615T>G	D28877	CCDS5397.1, CCDS43557.1	7p15	2013-02-12		2007-08-16	ENSG00000122566	ENSG00000122566		"""RNA binding motif (RRM) containing"""	5033	protein-coding gene	gene with protein product		600124		HNRPA2B1		8029005	Standard	NM_002137		Approved		uc003sxr.4	P22626	OTTHUMG00000023471	ENST00000354667.4:c.323A>C	7.37:g.26236615T>G	ENSP00000346694:p.His108Pro					HNRNPA2B1_uc003sxs.3_Missense_Mutation_p.H96P	p.H108P	NM_031243	NP_112533	P22626	ROA2_HUMAN			5	539	-			108					A8K064|P22627|Q9UC98|Q9UDJ2	Missense_Mutation	SNP	ENST00000354667.4	37	c.323A>C	CCDS43557.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.753916	0.69648	.	.	ENSG00000122566	ENST00000354667;ENST00000356674;ENST00000409814	D;D	0.93953	-3.32;-3.32	6.06	4.92	0.64577	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.64402	D	0.000001	D	0.94581	0.8254	M	0.84219	2.685	0.48395	D	0.999647	P;P	0.50156	0.932;0.842	P;B	0.49332	0.607;0.262	D	0.93620	0.6947	10	0.48119	T	0.1	.	12.1306	0.53940	0.0:0.0665:0.0:0.9335	.	96;108	P22626-2;P22626	.;ROA2_HUMAN	P	108;96;96	ENSP00000346694:H108P;ENSP00000349101:H96P	ENSP00000346694:H108P	H	-	2	0	HNRNPA2B1	26203140	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.850000	0.86915	1.118000	0.41863	0.528000	0.53228	CAT		0.383	HNRNPA2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214109.1	NM_002137		44	137	0	0	0	0.01441	0	44	137				
HNRNPA2B1	3181	broad.mit.edu	37	7	26236626	26236626	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:26236626T>G	ENST00000354667.4	-	5	480	c.312A>C	c.(310-312)aaA>aaC	p.K104N	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.K92N	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	104	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|RNA binding (GO:0003723)|single-stranded telomeric DNA binding (GO:0043047)	p.K104N(2)|p.K92N(2)	HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						GAGCCCCTGGTTTTCCAGATT	0.393			T	ETV1	prostate																																		uc003sxr.3		NA		Dom	yes		7	7p15	3181	T	heterogeneous nuclear ribonucleoprotein A2/B1			E	ETV1		prostate		4	Substitution - Missense(4)		lung(4)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(310-312)AAA>AAC		heterogeneous nuclear ribonucleoprotein A2/B1							99.0	102.0	101.0					7																	26236626		2203	4300	6503	SO:0001583	missense	3181				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding	g.chr7:26236626T>G	D28877	CCDS5397.1, CCDS43557.1	7p15	2013-02-12		2007-08-16	ENSG00000122566	ENSG00000122566		"""RNA binding motif (RRM) containing"""	5033	protein-coding gene	gene with protein product		600124		HNRPA2B1		8029005	Standard	NM_002137		Approved		uc003sxr.4	P22626	OTTHUMG00000023471	ENST00000354667.4:c.312A>C	7.37:g.26236626T>G	ENSP00000346694:p.Lys104Asn					HNRNPA2B1_uc003sxs.3_Missense_Mutation_p.K92N	p.K104N	NM_031243	NP_112533	P22626	ROA2_HUMAN			5	528	-			104			RRM 1.		A8K064|P22627|Q9UC98|Q9UDJ2	Missense_Mutation	SNP	ENST00000354667.4	37	c.312A>C	CCDS43557.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.016508	0.75161	.	.	ENSG00000122566	ENST00000354667;ENST00000356674;ENST00000409814	D;D	0.89196	-2.48;-2.48	6.06	0.877	0.19145	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	D	0.86924	0.6050	L	0.48362	1.52	0.38919	D	0.957694	P;D	0.59357	0.765;0.985	B;P	0.50270	0.234;0.636	D	0.84878	0.0829	10	0.66056	D	0.02	.	9.7559	0.40502	0.0:0.2581:0.0:0.7419	.	92;104	P22626-2;P22626	.;ROA2_HUMAN	N	104;92;92	ENSP00000346694:K104N;ENSP00000349101:K92N	ENSP00000346694:K104N	K	-	3	2	HNRNPA2B1	26203151	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	2.703000	0.47110	-0.067000	0.12976	-0.256000	0.11100	AAA		0.393	HNRNPA2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214109.1	NM_002137		37	116	0	0	0	0.00874	0	37	116				
WIPF3	644150	broad.mit.edu	37	7	29928925	29928925	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:29928925A>T	ENST00000409290.1	+	6	1253	c.1253A>T	c.(1252-1254)gAc>gTc	p.D418V	WIPF3_ENST00000409123.1_Missense_Mutation_p.D418V|WIPF3_ENST00000242140.5_Missense_Mutation_p.D418V	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	418					cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)		p.D418V(2)		breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						TGTGCAGATGACTTCGAGTCT	0.443																																							uc003taj.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1252-1254)GAC>GTC		WAS/WASL interacting protein family, member 3							134.0	124.0	127.0					7																	29928925		1936	4142	6078	SO:0001583	missense	644150							g.chr7:29928925A>T	AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.1253A>T	7.37:g.29928925A>T	ENSP00000386878:p.Asp418Val						p.D418V	NM_001080529	NP_001073998	A6NGB9	WIPF3_HUMAN			6	1253	+			418					B8ZZV2	Missense_Mutation	SNP	ENST00000409290.1	37	c.1253A>T	CCDS56472.1	.	.	.	.	.	.	.	.	.	.	A	19.08	3.757952	0.69648	.	.	ENSG00000122574	ENST00000409123;ENST00000409290;ENST00000242140	T;T;T	0.65732	-0.15;-0.17;-0.15	5.43	5.43	0.79202	.	0.000000	0.56097	D	0.000028	T	0.78278	0.4258	M	0.78456	2.415	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.81070	-0.1099	10	0.87932	D	0	.	12.1882	0.54252	1.0:0.0:0.0:0.0	.	418	A6NGB9	WIPF3_HUMAN	V	418	ENSP00000386790:D418V;ENSP00000386878:D418V;ENSP00000242140:D418V	ENSP00000242140:D418V	D	+	2	0	WIPF3	29895450	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	6.742000	0.74843	2.193000	0.70182	0.450000	0.29827	GAC		0.443	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327705.1			11	42	0	0	0	0.010729	0	11	42				
GHRHR	2692	broad.mit.edu	37	7	31010827	31010827	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:31010827C>G	ENST00000326139.2	+	5	506	c.460C>G	c.(460-462)Ctc>Gtc	p.L154V	GHRHR_ENST00000409316.1_5'UTR|GHRHR_ENST00000409904.3_Missense_Mutation_p.L90V	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	154					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)	p.L154V(2)		biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	CCTGGTTGCTCTCAGGTTTGT	0.493																																							uc003tbx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|large_intestine(1)	5						c.(460-462)CTC>GTC		growth hormone releasing hormone receptor	Sermorelin(DB00010)						187.0	150.0	162.0					7																	31010827		2199	4287	6486	SO:0001583	missense	2692				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	g.chr7:31010827C>G		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"""GPCR / Class B : Glucagon receptors"""	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.460C>G	7.37:g.31010827C>G	ENSP00000320180:p.Leu154Val					GHRHR_uc003tbw.1_Missense_Mutation_p.L154V|GHRHR_uc003tby.2_Missense_Mutation_p.L90V|GHRHR_uc003tbz.2_5'UTR	p.L154V	NM_000823	NP_000814	Q02643	GHRHR_HUMAN			5	508	+			154			Cytoplasmic (Potential).		Q99863	Missense_Mutation	SNP	ENST00000326139.2	37	c.460C>G	CCDS5432.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561578	0.65538	.	.	ENSG00000106128	ENST00000326139;ENST00000409904	T;T	0.45276	0.9;0.9	5.25	3.45	0.39498	GPCR, family 2-like (1);	.	.	.	.	T	0.50837	0.1639	L	0.52905	1.665	0.80722	D	1	D;D;P	0.59767	0.975;0.986;0.774	P;P;P	0.61132	0.77;0.884;0.593	T	0.50197	-0.8856	9	0.87932	D	0	.	6.824	0.23872	0.0:0.7266:0.0:0.2734	.	90;154;90	Q9HB45;Q02643;Q9HB44	.;GHRHR_HUMAN;.	V	154;90	ENSP00000320180:L154V;ENSP00000387113:L90V	ENSP00000320180:L154V	L	+	1	0	GHRHR	30977352	0.964000	0.33143	0.878000	0.34440	0.912000	0.54170	1.897000	0.39799	0.788000	0.33755	0.563000	0.77884	CTC		0.493	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2			2	7	0	0	0	0.004672	0	2	7				
BMPER	168667	broad.mit.edu	37	7	34091581	34091581	+	Splice_Site	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:34091581G>T	ENST00000297161.2	+	9	1159	c.785G>T	c.(784-786)aGg>aTg	p.R262M	BMPER_ENST00000494786.1_3'UTR|BMPER_ENST00000426693.1_Splice_Site_p.R262M	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	262	VWFC 4. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)		p.R262M(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGTACCTGCAGGGTAAGGCAG	0.453																																							uc011kap.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(784-786)AGG>ATG		BMP-binding endothelial regulator precursor							143.0	127.0	132.0					7																	34091581		2203	4300	6503	SO:0001630	splice_region_variant	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34091581G>T		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.786+1G>T	7.37:g.34091581G>T							p.R262M	NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN			8	899	+			262			VWFC 4.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.785G>T	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.483106	0.26598	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.65178	-0.14;-0.14	5.12	-1.9	0.07665	von Willebrand factor, type C (1);	0.815935	0.11709	N	0.537112	T	0.45377	0.1339	N	0.19112	0.55	0.32011	N	0.602039	B	0.25441	0.126	B	0.26770	0.073	T	0.44251	-0.9340	10	0.46703	T	0.11	.	12.6975	0.57012	0.6583:0.0:0.3417:0.0	.	262	Q8N8U9	BMPER_HUMAN	M	262	ENSP00000297161:R262M;ENSP00000393950:R262M	ENSP00000297161:R262M	R	+	2	0	BMPER	34058106	0.986000	0.35501	0.986000	0.45419	0.318000	0.28184	0.244000	0.18124	-0.314000	0.08716	0.655000	0.94253	AGG		0.453	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468	Missense_Mutation	21	85	1	0	1.55795e-14	0.012319	1.89369e-14	21	85				
POU6F2	11281	broad.mit.edu	37	7	39243834	39243834	+	Splice_Site	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:39243834G>C	ENST00000403058.1	+	4	345	c.191G>C	c.(190-192)gGg>gCg	p.G64A	POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000518318.2_Splice_Site_p.G64A|POU6F2_ENST00000559001.1_Splice_Site_p.G56A	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	64					central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G64A(2)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						TGAATTCCAGGGGCTAGAGGA	0.473																																							uc003thb.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(190-192)GGG>GCG		POU class 6 homeobox 2 isoform 1							79.0	71.0	74.0					7																	39243834		2203	4300	6503	SO:0001630	splice_region_variant	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39243834G>C	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.191-1G>C	7.37:g.39243834G>C						POU6F2_uc010kxo.2_Missense_Mutation_p.G56A	p.G64A	NM_007252	NP_009183	P78424	PO6F2_HUMAN			3	233	+			64					A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	ENST00000403058.1	37	c.191G>C	CCDS34620.2	.	.	.	.	.	.	.	.	.	.	G	16.26	3.073850	0.55646	.	.	ENSG00000106536	ENST00000403058;ENST00000518318;ENST00000451021	D;D	0.88975	-2.37;-2.45	5.84	5.84	0.93424	.	2587.460000	0.00166	N	0.000001	D	0.90157	0.6924	L	0.44542	1.39	0.58432	D	0.999999	D;B	0.55385	0.971;0.295	P;B	0.48270	0.572;0.091	T	0.77587	-0.2532	9	.	.	.	.	13.7675	0.63004	0.0788:0.0:0.9212:0.0	.	64;64	P78424-2;P78424	.;PO6F2_HUMAN	A	64;64;65	ENSP00000384004:G64A;ENSP00000430514:G64A	.	G	+	2	0	POU6F2	39210359	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.352000	0.73027	2.765000	0.95021	0.655000	0.94253	GGG		0.473	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252	Missense_Mutation	10	48	0	0	0	0.020292	0	10	48				
HIP1	3092	broad.mit.edu	37	7	75171247	75171247	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:75171247C>A	ENST00000336926.6	-	29	2969	c.2943G>T	c.(2941-2943)atG>atT	p.M981I	HIP1_ENST00000434438.2_Missense_Mutation_p.M930I	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	981	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)	p.M983I(2)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CCTGAGAATCCATCTCTTGGC	0.453			T	PDGFRB	CMML																																		uc003uds.1		NA		Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		2	Substitution - Missense(2)		lung(2)	lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						c.(2941-2943)ATG>ATT		huntingtin interacting protein 1							165.0	149.0	155.0					7																	75171247		2203	4300	6503	SO:0001583	missense	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75171247C>A	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.2943G>T	7.37:g.75171247C>A	ENSP00000336747:p.Met981Ile					HIP1_uc011kfz.1_Missense_Mutation_p.M807I	p.M981I	NM_005338	NP_005329	O00291	HIP1_HUMAN			29	2984	-			981			I/LWEQ.		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.2943G>T	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707013	0.89018	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.48522	0.81;0.81	5.04	5.04	0.67666	I/LWEQ (4);	0.000000	0.85682	D	0.000000	T	0.61961	0.2389	M	0.70842	2.15	0.80722	D	1	P;P	0.49635	0.926;0.926	P;P	0.54706	0.759;0.759	T	0.61964	-0.6954	10	0.37606	T	0.19	-31.9239	16.973	0.86305	0.0:1.0:0.0:0.0	.	930;981	E7ES17;O00291	.;HIP1_HUMAN	I	981;930	ENSP00000336747:M981I;ENSP00000410300:M930I	ENSP00000336747:M981I	M	-	3	0	HIP1	75009183	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.081000	0.76844	2.334000	0.79466	0.563000	0.77884	ATG		0.453	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		37	151	1	0	2.40579e-17	0.00623	3.0082e-17	37	151				
SEMA3C	10512	broad.mit.edu	37	7	80387687	80387687	+	Missense_Mutation	SNP	C	C	T	rs199883870		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:80387687C>T	ENST00000265361.3	-	15	2164	c.1603G>A	c.(1603-1605)Gat>Aat	p.D535N	SEMA3C_ENST00000419255.2_Missense_Mutation_p.D535N|SEMA3C_ENST00000544525.1_Missense_Mutation_p.D553N	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	535					axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GAATGGCCATCCCAGGCGCAA	0.532																																							uc003uhj.2		NA																	0				ovary(1)	1						c.(1603-1605)GAT>AAT		semaphorin 3C precursor							121.0	113.0	116.0					7																	80387687		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80387687C>T	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.1603G>A	7.37:g.80387687C>T	ENSP00000265361:p.Asp535Asn					SEMA3C_uc011kgw.1_Missense_Mutation_p.D553N	p.D535N	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			15	2165	-			535					B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.1603G>A	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	C	36	5.750081	0.96890	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.25085	1.82;1.82;1.82	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.56455	0.1986	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.58504	-0.7625	10	0.59425	D	0.04	.	19.6959	0.96026	0.0:1.0:0.0:0.0	.	553;535	F5H1Z7;Q99985	.;SEM3C_HUMAN	N	535;535;553	ENSP00000265361:D535N;ENSP00000411193:D535N;ENSP00000445649:D553N	ENSP00000265361:D535N	D	-	1	0	SEMA3C	80225623	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.705000	0.84606	2.729000	0.93468	0.467000	0.42956	GAT		0.532	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		9	197	0	0	0	0.004482	0	9	197				
CACNA2D1	781	broad.mit.edu	37	7	81746386	81746386	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:81746386T>A	ENST00000356253.5	-	6	755	c.500A>T	c.(499-501)cAt>cTt	p.H167L	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.H167L|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.H167L			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	167					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	AGTAGGAATATGGACTGCTGC	0.423																																							uc003uhr.1		NA																	0				ovary(5)|pancreas(1)	6						c.(499-501)CAT>CTT		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						158.0	142.0	147.0					7																	81746386		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81746386T>A	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.500A>T	7.37:g.81746386T>A	ENSP00000348589:p.His167Leu						p.H167L	NM_000722	NP_000713	P54289	CA2D1_HUMAN			6	756	-			167			Extracellular (Potential).		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.500A>T		.	.	.	.	.	.	.	.	.	.	T	24.1	4.497289	0.85069	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000423588	T;T;T	0.26518	3.04;3.03;1.73	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.51635	0.1686	M	0.81112	2.525	0.80722	D	1	D	0.71674	0.998	D	0.68483	0.958	T	0.52351	-0.8587	10	0.34782	T	0.22	-24.7294	15.4154	0.74962	0.0:0.0:0.0:1.0	.	167	P54289-2	.	L	167	ENSP00000349320:H167L;ENSP00000348589:H167L;ENSP00000405395:H167L	ENSP00000284088:H167L	H	-	2	0	CACNA2D1	81584322	1.000000	0.71417	0.998000	0.56505	0.885000	0.51271	5.799000	0.69101	2.046000	0.60703	0.454000	0.30748	CAT		0.423	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				6	201	0	0	0	0.001168	0	6	201				
PCLO	27445	broad.mit.edu	37	7	82544499	82544499	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:82544499C>G	ENST00000333891.9	-	7	13140	c.12803G>C	c.(12802-12804)gGa>gCa	p.G4268A	PCLO_ENST00000437081.1_Missense_Mutation_p.G988A|PCLO_ENST00000423517.2_Missense_Mutation_p.G4268A	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.G4268A(4)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TATGGTATTTCCTAATGTGCC	0.468																																							uc003uhx.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(7)	7						c.(12802-12804)GGA>GCA		piccolo isoform 1							20.0	20.0	20.0					7																	82544499		1948	4156	6104	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82544499C>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12803G>C	7.37:g.82544499C>G	ENSP00000334319:p.Gly4268Ala					PCLO_uc003uhv.2_Missense_Mutation_p.G4268A|PCLO_uc010lec.2_Missense_Mutation_p.G1233A	p.G4268A	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			7	13092	-			4199						Missense_Mutation	SNP	ENST00000333891.9	37	c.12803G>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822845	0.50739	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.19532	2.14;2.15	6.03	6.03	0.97812	.	.	.	.	.	T	0.38054	0.1026	L	0.51422	1.61	0.50467	D	0.99987	P;D;D	0.57571	0.908;0.98;0.98	B;P;P	0.54856	0.368;0.762;0.762	T	0.02398	-1.1165	9	0.87932	D	0	.	20.5753	0.99366	0.0:1.0:0.0:0.0	.	4199;4268;4268	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	A	4268;4268;988	ENSP00000334319:G4268A;ENSP00000388393:G4268A	ENSP00000334319:G4268A	G	-	2	0	PCLO	82382435	0.996000	0.38824	1.000000	0.80357	0.968000	0.65278	3.071000	0.50041	2.868000	0.98415	0.557000	0.71058	GGA		0.468	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		6	24	0	0	0	0.001168	0	6	24				
TRRAP	8295	broad.mit.edu	37	7	98533224	98533224	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:98533224A>G	ENST00000359863.4	+	28	4246	c.4037A>G	c.(4036-4038)gAa>gGa	p.E1346G	TRRAP_ENST00000446306.3_Missense_Mutation_p.E1345G|TRRAP_ENST00000355540.3_Missense_Mutation_p.E1346G	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1346					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.E1346G(4)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGTGAGGCTGAAGATTCAGCT	0.388																																							uc003upp.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(4036-4038)GAA>GGA		transformation/transcription domain-associated							105.0	100.0	102.0					7																	98533224		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98533224A>G	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.4037A>G	7.37:g.98533224A>G	ENSP00000352925:p.Glu1346Gly					TRRAP_uc011kis.1_Missense_Mutation_p.E1346G|TRRAP_uc003upr.2_Missense_Mutation_p.E1038G	p.E1346G	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		28	4246	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1346					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.4037A>G	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	33|33	5.260914|5.260914	0.95368|0.95368	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.03920|.	3.76;3.76|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76948|0.76948	0.4059|0.4059	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D;P;D|.	0.63880|.	0.993;0.935;0.983|.	P;P;P|.	0.60886|.	0.88;0.582;0.748|.	T|T	0.77104|0.77104	-0.2711|-0.2711	10|5	0.66056|.	D|.	0.02|.	.|.	16.8222|16.8222	0.85835|0.85835	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1346;1060;1346|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	G|E	1346;1346;1344|1061	ENSP00000352925:E1346G;ENSP00000347733:E1346G|.	ENSP00000347733:E1346G|.	E|K	+|+	2|1	0|0	TRRAP|TRRAP	98371160|98371160	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.104000|9.104000	0.94239|0.94239	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	GAA|AAG		0.388	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		38	54	0	0	0	0.006999	0	38	54				
CYP3A7	1551	broad.mit.edu	37	7	99311132	99311132	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:99311132C>T	ENST00000336374.2	-	9	827	c.825G>A	c.(823-825)atG>atA	p.M275I	AC069294.1_ENST00000408560.1_RNA	NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	275					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)	p.M275I(2)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	GAGAGTCAATCATCAGCTGAA	0.433																																							uc003uru.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(823-825)ATG>ATA		cytochrome P450, family 3, subfamily A,							109.0	107.0	108.0					7																	99311132		2203	4300	6503	SO:0001583	missense	1551				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr7:99311132C>T	AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"""Cytochrome P450s"""	2640	protein-coding gene	gene with protein product		605340	"""cytochrome P450, subfamily IIIA, polypeptide 7"""			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.825G>A	7.37:g.99311132C>T	ENSP00000337450:p.Met275Ile					ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	p.M275I	NM_000765	NP_000756	P24462	CP3A7_HUMAN			9	930	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		275					A4D288|Q9H241	Missense_Mutation	SNP	ENST00000336374.2	37	c.825G>A	CCDS5673.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.486214	0.63962	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	T	0.68181	-0.31	4.03	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.73118	0.3546	M	0.87269	2.87	0.51012	D	0.999904	B	0.32040	0.353	B	0.37239	0.244	T	0.78494	-0.2182	10	0.87932	D	0	.	13.6305	0.62191	0.0:1.0:0.0:0.0	.	275	P24462	CP3A7_HUMAN	I	275	ENSP00000337450:M275I	ENSP00000292414:M275I	M	-	3	0	CYP3A7	99149068	1.000000	0.71417	0.998000	0.56505	0.884000	0.51177	6.941000	0.75922	1.767000	0.52121	0.462000	0.41574	ATG		0.433	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1			20	148	0	0	0	0.014323	0	20	148				
CYP3A4	1576	broad.mit.edu	37	7	99358457	99358457	+	Silent	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:99358457A>C	ENST00000336411.2	-	12	1584	c.1401T>G	c.(1399-1401)ccT>ccG	p.P467P	CYP3A4_ENST00000354593.2_Silent_p.P317P	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	467			P -> S (in allele CYP3A4*19; dbSNP:rs4986913). {ECO:0000269|PubMed:11714865}.		alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)	p.P467P(1)		breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	TTTCTTTACAAGGTTTGAAGG	0.338																																							uc003urv.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(1399-1401)CCT>CCG		cytochrome P450, family 3, subfamily A,	Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)						140.0	130.0	133.0					7																	99358457		2203	4300	6503	SO:0001819	synonymous_variant	1576				alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity	g.chr7:99358457A>C	AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"""Cytochrome P450s"""	2637	protein-coding gene	gene with protein product		124010	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"""	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.1401T>G	7.37:g.99358457A>C						CYP3A4_uc003urw.1_Silent_p.P466P|CYP3A4_uc011kiz.1_Silent_p.P426P|CYP3A4_uc011kja.1_Silent_p.P418P|CYP3A4_uc011kjb.1_Silent_p.P317P	p.P467P	NM_017460	NP_059488	P08684	CP3A4_HUMAN			12	1505	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		467					P05184|Q16757|Q9UK50	Silent	SNP	ENST00000336411.2	37	c.1401T>G	CCDS5674.1																																																																																				0.338	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345059.1			68	96	0	0	0	0.01441	0	68	96				
SLC26A5	375611	broad.mit.edu	37	7	103017307	103017307	+	Silent	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:103017307A>T	ENST00000306312.3	-	19	2250	c.1989T>A	c.(1987-1989)atT>atA	p.I663I	SLC26A5_ENST00000339444.6_Silent_p.I663I|SLC26A5_ENST00000432958.2_Silent_p.I631I|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000354356.4_Silent_p.I96I|SLC26A5_ENST00000393730.1_Silent_p.I631I|SLC26A5_ENST00000393723.1_Silent_p.I633I|SLC26A5_ENST00000393729.1_Silent_p.I626I|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393727.1_Silent_p.I665I	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	663	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)	p.I663I(4)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						ATTCTTTTACAATCTGTAATA	0.323																																							uc003vbz.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(1)	1						c.(1987-1989)ATT>ATA		prestin isoform a							100.0	103.0	102.0					7																	103017307		2203	4297	6500	SO:0001819	synonymous_variant	375611				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103017307A>T	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.1989T>A	7.37:g.103017307A>T						SLC26A5_uc003vbt.1_Silent_p.I663I|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Silent_p.I631I|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	p.I663I	NM_198999	NP_945350	P58743	S26A5_HUMAN			19	2225	-			663			Cytoplasmic (Potential).|STAS.		Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Silent	SNP	ENST00000306312.3	37	c.1989T>A	CCDS5733.1																																																																																				0.323	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		28	100	0	0	0	0.00632	0	28	100				
RELN	5649	broad.mit.edu	37	7	103155820	103155820	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:103155820C>T	ENST00000428762.1	-	50	8090	c.7931G>A	c.(7930-7932)aGa>aAa	p.R2644K	RELN_ENST00000343529.5_Missense_Mutation_p.R2644K|RELN_ENST00000424685.2_Missense_Mutation_p.R2644K|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2644					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.R2644K(2)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCCGTCATGTCTTGGCTGCCA	0.532																																					NSCLC(146;835 1944 15585 22231 52158)	NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(7930-7932)AGA>AAA		reelin isoform a							53.0	49.0	50.0					7																	103155820		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103155820C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.7931G>A	7.37:g.103155820C>T	ENSP00000392423:p.Arg2644Lys					RELN_uc010liz.2_Missense_Mutation_p.R2644K	p.R2644K	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	50	8091	-			2644					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.7931G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	9.173	1.021567	0.19433	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.20738	2.05;2.05;2.05	5.12	3.31	0.37934	Neuraminidase (2);	0.292719	0.37136	N	0.002240	T	0.07999	0.0200	N	0.04636	-0.2	0.23704	N	0.997066	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33240	-0.9876	10	0.19590	T	0.45	.	6.0005	0.19517	0.0:0.5841:0.0:0.4159	.	2644;2644	P78509-2;P78509	.;RELN_HUMAN	K	2644;2644;2644;161;2644	ENSP00000392423:R2644K;ENSP00000345694:R2644K;ENSP00000388446:R2644K	ENSP00000345694:R2644K	R	-	2	0	RELN	102943056	1.000000	0.71417	0.417000	0.26559	0.984000	0.73092	4.540000	0.60664	0.731000	0.32448	0.643000	0.83706	AGA		0.532	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		14	62	0	0	0	0.016723	0	14	62				
PIK3CG	5294	broad.mit.edu	37	7	106524641	106524641	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:106524641C>T	ENST00000359195.3	+	9	3112	c.2802C>T	c.(2800-2802)ggC>ggT	p.G934G	PIK3CG_ENST00000440650.2_Silent_p.G934G|PIK3CG_ENST00000496166.1_Silent_p.G934G	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	934	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G934G(2)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCTGTGCAGGCTACTGTGTGG	0.363																																							uc003vdv.3		NA																	2	Substitution - coding silent(2)		lung(2)	lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(2800-2802)GGC>GGT		phosphoinositide-3-kinase, catalytic, gamma							193.0	188.0	189.0					7																	106524641		2203	4300	6503	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106524641C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2802C>T	7.37:g.106524641C>T						PIK3CG_uc003vdu.2_Silent_p.G934G|PIK3CG_uc003vdw.2_Silent_p.G934G	p.G934G	NM_002649	NP_002640	P48736	PK3CG_HUMAN			9	2887	+			934			PI3K/PI4K.		A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.2802C>T	CCDS5739.1																																																																																				0.363	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			102	174	0	0	0	0.01441	0	102	174				
LAMB4	22798	broad.mit.edu	37	7	107743504	107743504	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:107743504G>A	ENST00000388781.3	-	10	1248	c.1165C>T	c.(1165-1167)Ccc>Tcc	p.P389S	LAMB4_ENST00000388780.3_Missense_Mutation_p.P389S|LAMB4_ENST00000414450.2_Missense_Mutation_p.P389S|LAMB4_ENST00000205386.4_Missense_Mutation_p.P389S|LAMB4_ENST00000418464.1_Missense_Mutation_p.P389S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	389	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.P389S(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CACGCGTAGGGATCTGAGATG	0.597																																							uc010ljo.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(1165-1167)CCC>TCC		laminin, beta 4 precursor							69.0	61.0	63.0					7																	107743504		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107743504G>A	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.1165C>T	7.37:g.107743504G>A	ENSP00000373433:p.Pro389Ser					LAMB4_uc003vey.2_Missense_Mutation_p.P389S	p.P389S	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			10	1249	-			389			Laminin EGF-like 2.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.1165C>T	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898735	0.52227	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.35973	1.31;1.31;1.33;1.28;1.32	4.02	4.02	0.46733	EGF-like, laminin (3);	0.132054	0.34555	N	0.003872	T	0.59542	0.2201	M	0.73372	2.23	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64588	-0.6372	10	0.56958	D	0.05	.	16.7111	0.85385	0.0:0.0:1.0:0.0	.	389	A4D0S4	LAMB4_HUMAN	S	389	ENSP00000205386:P389S;ENSP00000373433:P389S;ENSP00000373432:P389S;ENSP00000402353:P389S;ENSP00000402265:P389S	ENSP00000205386:P389S	P	-	1	0	LAMB4	107530740	1.000000	0.71417	0.855000	0.33649	0.251000	0.25915	7.292000	0.78731	2.226000	0.72624	0.655000	0.94253	CCC		0.597	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		35	45	0	0	0	0.019004	0	35	45				
FLNC	2318	broad.mit.edu	37	7	128497383	128497383	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:128497383G>T	ENST00000325888.8	+	46	8034	c.7773G>T	c.(7771-7773)aaG>aaT	p.K2591N	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.K2558N	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2591	Interaction with INPPL1.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCAAGGCCAAGGTCACTGGTG	0.632																																							uc003vnz.3		NA																	0				breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(7771-7773)AAG>AAT		gamma filamin isoform a							26.0	27.0	26.0					7																	128497383		2129	4246	6375	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128497383G>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.7773G>T	7.37:g.128497383G>T	ENSP00000327145:p.Lys2591Asn					FLNC_uc003voa.3_Missense_Mutation_p.K2558N	p.K2591N	NM_001458	NP_001449	Q14315	FLNC_HUMAN			46	7982	+			2591			Interaction with INPPL1.|Filamin 23.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.7773G>T	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	g	15.95	2.984713	0.53934	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.86164	-2.07;-2.08	5.28	3.3	0.37823	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.051652	0.85682	D	0.000000	D	0.87354	0.6156	L	0.59912	1.85	0.44188	D	0.997006	P;D	0.55172	0.614;0.97	P;P	0.52267	0.506;0.694	D	0.83751	0.0209	10	0.33940	T	0.23	.	10.5168	0.44894	0.1877:0.0:0.8123:0.0	.	2558;2591	Q14315-2;Q14315	.;FLNC_HUMAN	N	2591;2558	ENSP00000327145:K2591N;ENSP00000344002:K2558N	ENSP00000327145:K2591N	K	+	3	2	FLNC	128284619	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.884000	0.28214	0.464000	0.27142	0.555000	0.69702	AAG		0.632	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			4	67	1	0	0.00116845	0.001168	0.00121655	4	67				
CREB3L2	64764	broad.mit.edu	37	7	137586170	137586170	+	Splice_Site	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:137586170T>A	ENST00000330387.6	-	8	1326		c.e8-2		CREB3L2_ENST00000456390.1_Splice_Site	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2						cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|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)|transcription regulatory region DNA binding (GO:0044212)	p.?(1)	FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GACTCCACTCTACAAAGGAGG	0.463			T	FUS	fibromyxoid sarcoma																																		uc003vtw.2		NA		Dom	yes		7	7q34	64764	T	cAMP responsive element binding protein 3-like 2			M	FUS		fibromyxoid sarcoma	FUS/CREB3L2(158)	1	Unknown(1)		lung(1)	soft_tissue(158)|upper_aerodigestive_tract(1)|ovary(1)	160						c.e8-1		cAMP responsive element binding protein 3-like							68.0	63.0	65.0					7																	137586170		2203	4300	6503	SO:0001630	splice_region_variant	64764				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:137586170T>A	AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"""basic leucine zipper proteins"""	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.975-2A>T	7.37:g.137586170T>A						CREB3L2_uc003vtx.1_Splice_Site_p.K325_splice|CREB3L2_uc003vtv.2_Splice_Site_p.K262_splice	p.K325_splice	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN			8	1370	-								Q6P454|Q6ZMR6	Splice_Site	SNP	ENST00000330387.6	37	c.975_splice	CCDS34760.1	.	.	.	.	.	.	.	.	.	.	T	18.98	3.736877	0.69304	.	.	ENSG00000182158	ENST00000330387;ENST00000456390	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5429	0.76070	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CREB3L2	137236710	1.000000	0.71417	0.919000	0.36401	0.674000	0.39518	6.743000	0.74848	2.077000	0.62373	0.528000	0.53228	.		0.463	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	NM_194071	Intron	7	81	0	0	0	0.004482	0	7	81				
ZC3HAV1L	92092	broad.mit.edu	37	7	138713464	138713464	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:138713464C>G	ENST00000275766.1	-	3	755	c.744G>C	c.(742-744)aaG>aaC	p.K248N		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	248								p.K248N(2)		NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						TTTCAAGCATCTTGTGCAGCT	0.403																																							uc003vum.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(742-744)AAG>AAC		zinc finger CCCH-type, antiviral 1-like							103.0	101.0	102.0					7																	138713464		2203	4300	6503	SO:0001583	missense	92092							g.chr7:138713464C>G	BC008842	CCDS5850.1	7q34	2006-07-03	2006-07-03	2006-07-03	ENSG00000146858	ENSG00000146858			22423	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 39"""	C7orf39			Standard	NM_080660		Approved	MGC14289	uc003vum.1	Q96H79	OTTHUMG00000157229	ENST00000275766.1:c.744G>C	7.37:g.138713464C>G	ENSP00000275766:p.Lys248Asn						p.K248N	NM_080660	NP_542391	Q96H79	ZCCHL_HUMAN			3	756	-			248					Q8WUD9	Missense_Mutation	SNP	ENST00000275766.1	37	c.744G>C	CCDS5850.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.924398	0.34002	.	.	ENSG00000146858	ENST00000275766	T	0.30981	1.51	5.62	3.75	0.43078	.	0.242522	0.29300	N	0.012543	T	0.20861	0.0502	L	0.29908	0.895	0.30174	N	0.801035	B	0.11235	0.004	B	0.11329	0.006	T	0.12041	-1.0563	10	0.31617	T	0.26	.	8.8864	0.35406	0.1953:0.655:0.1497:0.0	.	248	Q96H79	ZCCHL_HUMAN	N	248	ENSP00000275766:K248N	ENSP00000275766:K248N	K	-	3	2	ZC3HAV1L	138364004	0.097000	0.21791	0.992000	0.48379	0.936000	0.57629	0.685000	0.25378	0.777000	0.33496	0.650000	0.86243	AAG		0.403	ZC3HAV1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348090.1	NM_080660		24	158	0	0	0	0.01892	0	24	158				
DENND2A	27147	broad.mit.edu	37	7	140301227	140301227	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:140301227C>G	ENST00000275884.6	-	2	1388	c.971G>C	c.(970-972)aGa>aCa	p.R324T	DENND2A_ENST00000537639.1_Missense_Mutation_p.R324T|DENND2A_ENST00000492720.1_Missense_Mutation_p.R324T|DENND2A_ENST00000496613.1_Missense_Mutation_p.R324T			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	324					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R324T(2)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GGATTTCTGTCTCCCGGTCCA	0.572																																							uc010lnj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(1)	4						c.(970-972)AGA>ACA		DENN/MADD domain containing 2A							54.0	58.0	57.0					7																	140301227		2054	4212	6266	SO:0001583	missense	27147							g.chr7:140301227C>G	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.971G>C	7.37:g.140301227C>G	ENSP00000275884:p.Arg324Thr					DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.R324T|DENND2A_uc003vvw.2_Missense_Mutation_p.R324T|DENND2A_uc003vvx.2_Missense_Mutation_p.R324T	p.R324T	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN			1	1116	-	Melanoma(164;0.00956)		324					C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	c.971G>C	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924960	0.52759	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.12361	3.37;3.37;3.37;2.69	4.61	4.61	0.57282	.	0.438594	0.25233	N	0.032144	T	0.16085	0.0387	L	0.59436	1.845	0.36764	D	0.883436	P;P	0.40398	0.716;0.599	B;B	0.43082	0.407;0.266	T	0.07046	-1.0793	10	0.87932	D	0	-5.9059	5.4517	0.16568	0.0:0.7563:0.0:0.2437	.	324;324	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	T	324	ENSP00000275884:R324T;ENSP00000442245:R324T;ENSP00000419654:R324T;ENSP00000419464:R324T	ENSP00000275884:R324T	R	-	2	0	DENND2A	139947696	1.000000	0.71417	0.449000	0.26957	0.925000	0.55904	4.143000	0.58051	2.402000	0.81655	0.462000	0.41574	AGA		0.572	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		17	163	0	0	0	0.006122	0	17	163				
TRPV6	55503	broad.mit.edu	37	7	142570163	142570163	+	Silent	SNP	G	G	A	rs373768674		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:142570163G>A	ENST00000359396.3	-	14	2102	c.1857C>T	c.(1855-1857)tgC>tgT	p.C619C		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	619					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					ACTCCCGTCCGCAGATCCCGG	0.622																																							uc003wbx.1		NA																	0				ovary(2)	2						c.(1855-1857)TGC>TGT		transient receptor potential cation channel,		G		1,4405	2.1+/-5.4	0,1,2202	58.0	53.0	55.0		1857	-10.8	0.1	7		55	0,8600		0,0,4300	no	coding-synonymous	TRPV6	NM_018646.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		619/726	142570163	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142570163G>A	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1857C>T	7.37:g.142570163G>A						TRPV6_uc003wbw.1_Silent_p.C405C|TRPV6_uc010lou.1_Silent_p.C490C	p.C619C	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN			14	2073	-	Melanoma(164;0.059)		619			Cytoplasmic (Potential).		A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Silent	SNP	ENST00000359396.3	37	c.1857C>T	CCDS5874.1																																																																																				0.622	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		7	58	0	0	0	0.001984	0	7	58				
KEL	3792	broad.mit.edu	37	7	142640627	142640627	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:142640627A>G	ENST00000355265.2	-	15	2123	c.1649T>C	c.(1648-1650)gTa>gCa	p.V550A	KEL_ENST00000479768.2_5'Flank	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	550					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.V550A(2)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TGGAAAGACTACCACATGGTC	0.547																																							uc003wcb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(1)	4						c.(1648-1650)GTA>GCA		Kell blood group, metallo-endopeptidase							153.0	130.0	138.0					7																	142640627		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142640627A>G	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1649T>C	7.37:g.142640627A>G	ENSP00000347409:p.Val550Ala						p.V550A	NM_000420	NP_000411	P23276	KELL_HUMAN			15	1859	-	Melanoma(164;0.059)		550			Extracellular (Potential).		B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.1649T>C	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	A	12.45	1.940667	0.34283	.	.	ENSG00000197993	ENST00000355265	D	0.82984	-1.67	4.88	2.41	0.29592	Peptidase M13, neprilysin, C-terminal (2);	0.510996	0.17903	N	0.158110	T	0.73753	0.3627	L	0.49571	1.57	0.22940	N	0.998535	B	0.28419	0.211	B	0.25614	0.062	T	0.66122	-0.6002	10	0.66056	D	0.02	-11.026	3.7461	0.08548	0.656:0.2263:0.1177:0.0	.	550	P23276	KELL_HUMAN	A	550	ENSP00000347409:V550A	ENSP00000347409:V550A	V	-	2	0	KEL	142350749	0.751000	0.28327	0.496000	0.27539	0.933000	0.57130	3.208000	0.51114	0.843000	0.35070	0.533000	0.62120	GTA		0.547	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		25	77	0	0	0	0.007291	0	25	77				
OR2A14	135941	broad.mit.edu	37	7	143827010	143827010	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:143827010C>A	ENST00000408899.2	+	1	860	c.805C>A	c.(805-807)Cag>Aag	p.Q269K		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q269K(2)		large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TCCTGAGGAGCAGCAGAAAGT	0.552																																							uc011kua.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(805-807)CAG>AAG		olfactory receptor, family 2, subfamily A,							124.0	130.0	128.0					7																	143827010		1965	4161	6126	SO:0001583	missense	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143827010C>A		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.805C>A	7.37:g.143827010C>A	ENSP00000386137:p.Gln269Lys						p.Q269K	NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN			1	805	+	Melanoma(164;0.0783)		269			Extracellular (Potential).		Q6IF41|Q8NGT8	Missense_Mutation	SNP	ENST00000408899.2	37	c.805C>A	CCDS43672.1	.	.	.	.	.	.	.	.	.	.	C	4.203	0.036457	0.08148	.	.	ENSG00000221938	ENST00000408899	T	0.00137	8.68	4.18	3.29	0.37713	GPCR, rhodopsin-like superfamily (1);	0.292535	0.18546	U	0.138060	T	0.00144	0.0004	L	0.33093	0.98	0.24947	N	0.991811	B	0.14438	0.01	B	0.20384	0.029	T	0.16482	-1.0401	10	0.46703	T	0.11	-8.4336	9.448	0.38710	0.3852:0.6148:0.0:0.0	.	269	Q96R47	O2A14_HUMAN	K	269	ENSP00000386137:Q269K	ENSP00000386137:Q269K	Q	+	1	0	OR2A14	143457943	0.000000	0.05858	1.000000	0.80357	0.157000	0.22087	-0.791000	0.04599	1.070000	0.40811	0.561000	0.74099	CAG		0.552	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			100	319	1	0	3.21569e-47	0.01441	4.5181e-47	100	319				
AGAP3	116988	broad.mit.edu	37	7	150817157	150817157	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:150817157C>T	ENST00000463381.1	+	8	865	c.369C>T	c.(367-369)cgC>cgT	p.R123R	AGAP3_ENST00000479901.1_Intron|AGAP3_ENST00000397238.2_Silent_p.R351R|AGAP3_ENST00000335367.3_Silent_p.R531R|AGAP3_ENST00000473312.1_Silent_p.R351R	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	315	Small GTPase-like.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GGGAGCTGCGCATCGAGACCA	0.657																																							uc003wjg.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(1051-1053)CGC>CGT		centaurin, gamma 3 isoform a							61.0	75.0	70.0					7																	150817157		2180	4281	6461	SO:0001819	synonymous_variant	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150817157C>T	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.369C>T	7.37:g.150817157C>T						AGAP3_uc003wje.1_Silent_p.R123R|AGAP3_uc003wjf.1_Silent_p.R351R|AGAP3_uc010lpy.1_Intron|AGAP3_uc003wjh.1_Silent_p.R531R|AGAP3_uc003wji.1_5'Flank	p.R351R	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN			8	1056	+			315			Small GTPase-like.		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Silent	SNP	ENST00000463381.1	37	c.1053C>T																																																																																					0.657	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		9	87	0	0	0	0.006214	0	9	87				
CHPF2	54480	broad.mit.edu	37	7	150932245	150932245	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr7:150932245C>A	ENST00000035307.2	+	2	1888	c.375C>A	c.(373-375)gcC>gcA	p.A125A	CHPF2_ENST00000495645.1_Silent_p.A117A	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	125					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.A125A(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GTACGGTGGCCCATCACTTCC	0.657																																							uc003wjr.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(373-375)GCC>GCA		chondroitin polymerizing factor 2							81.0	75.0	77.0					7																	150932245		2203	4300	6503	SO:0001819	synonymous_variant	54480					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr7:150932245C>A	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.375C>A	7.37:g.150932245C>A						CHPF2_uc003wjq.1_Silent_p.A117A	p.A125A	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN			2	1888	+			125			Lumenal (Potential).		B2DBD8|Q6P2I4|Q6UXD2	Silent	SNP	ENST00000035307.2	37	c.375C>A	CCDS34779.1																																																																																				0.657	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015		44	138	1	0	1.7489e-18	0.011902	2.21867e-18	44	138				
CSMD1	64478	broad.mit.edu	37	8	2855548	2855548	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:2855548G>T	ENST00000520002.1	-	55	8920	c.8365C>A	c.(8365-8367)Ctg>Atg	p.L2789M	CSMD1_ENST00000537824.1_Missense_Mutation_p.L2788M|CSMD1_ENST00000602723.1_Missense_Mutation_p.L2731M|CSMD1_ENST00000400186.3_Missense_Mutation_p.L2731M|CSMD1_ENST00000542608.1_Missense_Mutation_p.L2730M|CSMD1_ENST00000602557.1_Missense_Mutation_p.L2789M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2789	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.L2788M(2)|p.L2517M(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)		CACGTGGGCAGAGGGCTACTC	0.557																																							uc011kwk.1		NA																	4	Substitution - Missense(4)		lung(4)	breast(20)|large_intestine(5)	25						c.(8365-8367)CTG>ATG		CUB and Sushi multiple domains 1 precursor							59.0	59.0	59.0					8																	2855548		2045	4201	6246	SO:0001583	missense	64478					integral to membrane		g.chr8:2855548G>T			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.8365C>A	8.37:g.2855548G>T	ENSP00000430733:p.Leu2789Met					CSMD1_uc011kwj.1_Missense_Mutation_p.L2118M|CSMD1_uc010lrg.2_Missense_Mutation_p.L799M	p.L2789M	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)	54	8755	-		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)	2789			Extracellular (Potential).|Sushi 19.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.8365C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.21|17.21	3.331999|3.331999	0.60853|0.60853	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.65916|.	-0.18;-0.18;-0.18;-0.18|.	6.07|6.07	-5.42|-5.42	0.02640|0.02640	Complement control module (2);Sushi/SCR/CCP (3);|.	0.000000|.	0.64402|.	D|.	0.000019|.	T|T	0.49795|0.49795	0.1578|0.1578	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	D;P;D|.	0.89917|.	0.999;0.94;1.0|.	D;P;D|.	0.83275|.	0.996;0.892;0.996|.	T|T	0.50074|0.50074	-0.8870|-0.8870	10|5	0.46703|.	T|.	0.11|.	.|.	11.3614|11.3614	0.49646|0.49646	0.5662:0.0842:0.3496:0.0|0.5662:0.0842:0.3496:0.0	.|.	2789;2789;2730|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	M|Y	2731;2789;2650;2788;2730|2205	ENSP00000383047:L2731M;ENSP00000430733:L2789M;ENSP00000441462:L2788M;ENSP00000446243:L2730M|.	ENSP00000320445:L2650M|.	L|S	-|-	1|2	2|0	CSMD1|CSMD1	2842955|2842955	0.294000|0.294000	0.24380|0.24380	0.002000|0.002000	0.10522|0.10522	0.897000|0.897000	0.52465|0.52465	0.577000|0.577000	0.23758|0.23758	-1.063000|-1.063000	0.03177|0.03177	-0.768000|-0.768000	0.03414|0.03414	CTG|TCT		0.557	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		12	43	1	0	5.50884e-06	0.013537	5.94075e-06	12	43				
NUGGC	389643	broad.mit.edu	37	8	27891171	27891171	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:27891171A>G	ENST00000413272.2	-	14	1797	c.1655T>C	c.(1654-1656)gTt>gCt	p.V552A	NUGGC_ENST00000341513.6_Missense_Mutation_p.V552A	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	552					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.V552A(4)									TTTCAGGCAAACAGCTTTCAG	0.438																																							uc003xgm.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)|central_nervous_system(1)	2						c.(1654-1656)GTT>GCT		speckled-like pattern in the germinal center							113.0	103.0	106.0					8																	27891171		1905	4105	6010	SO:0001583	missense	389643					nucleus	GTP binding|GTPase activity	g.chr8:27891171A>G	AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.1655T>C	8.37:g.27891171A>G	ENSP00000408697:p.Val552Ala						p.V552A	NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)	14	1798	-		Ovarian(32;0.0218)	552					Q6ZP73	Missense_Mutation	SNP	ENST00000413272.2	37	c.1655T>C	CCDS47833.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.682400	0.47991	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.36520	1.25;1.25	5.1	5.1	0.69264	.	0.248169	0.33980	N	0.004376	T	0.28200	0.0696	L	0.34521	1.04	0.30848	N	0.734861	B	0.23591	0.088	B	0.20955	0.032	T	0.26883	-1.0090	10	0.52906	T	0.07	-8.0677	11.3557	0.49615	1.0:0.0:0.0:0.0	.	552	Q68CJ6	SLIP_HUMAN	A	552	ENSP00000408697:V552A;ENSP00000345031:V552A	ENSP00000345031:V552A	V	-	2	0	C8orf80	27947090	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	3.535000	0.53575	1.916000	0.55485	0.529000	0.55759	GTT		0.438	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906		11	116	0	0	0	0.008291	0	11	116				
TEX15	56154	broad.mit.edu	37	8	30703478	30703478	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:30703478G>C	ENST00000256246.2	-	1	3130	c.3056C>G	c.(3055-3057)aCt>aGt	p.T1019S	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1019					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.T1019S(2)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TCCTACTTTAGTTATAAGCTG	0.338																																							uc003xil.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(3055-3057)ACT>AGT		testis expressed 15							103.0	114.0	111.0					8																	30703478		2202	4296	6498	SO:0001583	missense	56154							g.chr8:30703478G>C	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.3056C>G	8.37:g.30703478G>C	ENSP00000256246:p.Thr1019Ser						p.T1019S	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	3056	-			1019						Missense_Mutation	SNP	ENST00000256246.2	37	c.3056C>G	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	9.563	1.119055	0.20877	.	.	ENSG00000133863	ENST00000256246	T	0.10099	2.91	5.62	5.62	0.85841	.	0.476362	0.19597	N	0.110468	T	0.06234	0.0161	N	0.04508	-0.205	0.25690	N	0.985699	B	0.16166	0.016	B	0.15484	0.013	T	0.26744	-1.0094	10	0.87932	D	0	.	12.1747	0.54178	0.0:0.0:0.8294:0.1706	.	1019	Q9BXT5	TEX15_HUMAN	S	1019	ENSP00000256246:T1019S	ENSP00000256246:T1019S	T	-	2	0	TEX15	30823020	1.000000	0.71417	0.995000	0.50966	0.896000	0.52359	3.816000	0.55658	2.647000	0.89833	0.467000	0.42956	ACT		0.338	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			60	282	0	0	0	0.01441	0	60	282				
PLAT	5327	broad.mit.edu	37	8	42046532	42046532	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:42046532C>G	ENST00000220809.4	-	4	429	c.173G>C	c.(172-174)cGc>cCc	p.R58P	PLAT_ENST00000429710.2_Missense_Mutation_p.R58P|PLAT_ENST00000429089.2_Missense_Mutation_p.R58P|PLAT_ENST00000352041.3_Intron|PLAT_ENST00000270189.6_Missense_Mutation_p.R58P|PLAT_ENST00000519510.1_Missense_Mutation_p.R58P|PLAT_ENST00000524009.1_Missense_Mutation_p.R58P	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	58	Fibronectin type-I. {ECO:0000255|PROSITE- ProRule:PRU00478}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)	p.R58P(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	GAGCACAGGGCGCAGCCATGA	0.502																																							uc003xos.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)|skin(1)	2						c.(172-174)CGC>CCC		plasminogen activator, tissue isoform 1	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						216.0	211.0	212.0					8																	42046532		2203	4300	6503	SO:0001583	missense	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42046532C>G		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.173G>C	8.37:g.42046532C>G	ENSP00000220809:p.Arg58Pro					PLAT_uc010lxf.1_Intron|PLAT_uc010lxg.1_Missense_Mutation_p.R58P|PLAT_uc003xot.2_Intron|PLAT_uc011lcm.1_Missense_Mutation_p.R58P|PLAT_uc011lcn.1_Missense_Mutation_p.R58P	p.R58P	NM_000930	NP_000921	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		4	382	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	58			Fibronectin type-I.		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	37	c.173G>C	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214475	0.58452	.	.	ENSG00000104368	ENST00000270189;ENST00000429089;ENST00000220809;ENST00000519510;ENST00000429710;ENST00000524009;ENST00000520523;ENST00000521694	T;T;T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	5.11	5.11	0.69529	Fibronectin, type I (4);Complement control module (1);	0.000000	0.85682	D	0.000000	T	0.80984	0.4729	M	0.82517	2.595	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.996;0.998	D	0.84168	0.0432	10	0.87932	D	0	.	16.7632	0.85517	0.0:1.0:0.0:0.0	.	58;58;58;58	B4DNJ1;B4DN26;B4DV92;P00750	.;.;.;TPA_HUMAN	P	58	ENSP00000270189:R58P;ENSP00000392045:R58P;ENSP00000220809:R58P;ENSP00000428886:R58P;ENSP00000407861:R58P;ENSP00000429401:R58P;ENSP00000428797:R58P;ENSP00000429801:R58P	ENSP00000220809:R58P	R	-	2	0	PLAT	42165689	1.000000	0.71417	0.968000	0.41197	0.156000	0.22039	5.388000	0.66249	2.396000	0.81511	0.585000	0.79938	CGC		0.502	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		93	510	0	0	0	0.01441	0	93	510				
PXDNL	137902	broad.mit.edu	37	8	52359614	52359614	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:52359614C>T	ENST00000356297.4	-	12	1575	c.1475G>A	c.(1474-1476)aGt>aAt	p.S492N	PXDNL_ENST00000543296.1_Missense_Mutation_p.S492N	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	492	Ig-like C2-type 3.				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.S492N(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)				CCCCAACGAACTGACTGCTTG	0.468																																							uc003xqu.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(1474-1476)AGT>AAT		peroxidasin homolog-like precursor							174.0	169.0	171.0					8																	52359614		2021	4178	6199	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52359614C>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.1475G>A	8.37:g.52359614C>T	ENSP00000348645:p.Ser492Asn						p.S492N	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			12	1576	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	492			Ig-like C2-type 3.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.1475G>A	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.511123	0.00984	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.74632	-0.86;-0.86	4.02	3.13	0.36017	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.29491	0.0735	N	0.00090	-2.18	0.26675	N	0.971642	B	0.11235	0.004	B	0.19391	0.025	T	0.41592	-0.9500	9	0.02654	T	1	.	7.4584	0.27280	0.0:0.8746:0.0:0.1254	.	492	A1KZ92	PXDNL_HUMAN	N	492	ENSP00000348645:S492N;ENSP00000444865:S492N	ENSP00000348645:S492N	S	-	2	0	PXDNL	52522167	0.999000	0.42202	0.781000	0.31783	0.303000	0.27691	1.534000	0.36051	0.662000	0.31006	0.467000	0.42956	AGT		0.468	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		55	215	0	0	0	0.01441	0	55	215				
NPBWR1	2831	broad.mit.edu	37	8	53853265	53853265	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:53853265C>A	ENST00000331251.3	+	1	2275	c.798C>A	c.(796-798)ccC>ccA	p.P266P		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	266					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				GCTGGACGCCCTACCACCTGA	0.657																																							uc011ldu.1		NA																	0				ovary(2)|breast(1)	3						c.(796-798)CCC>CCA		G protein-coupled receptor 7							57.0	39.0	45.0					8																	53853265		2203	4299	6502	SO:0001819	synonymous_variant	2831				synaptic transmission	plasma membrane	opioid receptor activity|protein binding	g.chr8:53853265C>A	BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4522	protein-coding gene	gene with protein product		600730	"""G protein-coupled receptor 7"""	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.798C>A	8.37:g.53853265C>A							p.P266P	NM_005285	NP_005276	P48145	NPBW1_HUMAN			1	798	+		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)	266			Helical; Name=6; (Potential).		Q6NTC7	Silent	SNP	ENST00000331251.3	37	c.798C>A	CCDS6151.1																																																																																				0.657	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378047.1	NM_005285		4	60	1	0	0.00909568	0.009096	0.00937058	4	60				
ZFHX4	79776	broad.mit.edu	37	8	77767721	77767721	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:77767721C>A	ENST00000521891.2	+	10	9012	c.8564C>A	c.(8563-8565)cCt>cAt	p.P2855H	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2829H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2810H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2810H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2810					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.P2839H(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCAACCACACCTACCACGGAG	0.473										HNSCC(33;0.089)																													uc003yav.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(8428-8430)CCT>CAT		zinc finger homeodomain 4							78.0	80.0	79.0					8																	77767721		1947	4143	6090	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767721C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8564C>A	8.37:g.77767721C>A	ENSP00000430497:p.Pro2855His	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.P2855H|ZFHX4_uc003yaw.1_Missense_Mutation_p.P2810H	p.P2810H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8816	+			2810					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.8429C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	12.05	1.822253	0.32237	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.51574	0.7;0.74;0.71;0.71	5.25	5.25	0.73442	.	0.000000	0.44285	U	0.000473	T	0.59729	0.2215	L	0.36672	1.1	0.54753	D	0.999989	D;D;D	0.64830	0.989;0.994;0.994	D;D;D	0.69307	0.92;0.963;0.963	T	0.55244	-0.8171	10	0.37606	T	0.19	.	19.0329	0.92965	0.0:1.0:0.0:0.0	.	2810;2810;2855	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	H	2855;2839;2810;2810;2829	ENSP00000430497:P2855H;ENSP00000399605:P2810H;ENSP00000050961:P2810H;ENSP00000430848:P2829H	ENSP00000050961:P2810H	P	+	2	0	ZFHX4	77930276	1.000000	0.71417	0.996000	0.52242	0.208000	0.24298	5.041000	0.64196	2.733000	0.93635	0.561000	0.74099	CCT		0.473	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		26	54	1	0	3.08376e-08	0.01892	3.46371e-08	26	54				
LRRCC1	85444	broad.mit.edu	37	8	86042277	86042277	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:86042277A>G	ENST00000360375.3	+	11	1899	c.1750A>G	c.(1750-1752)Aaa>Gaa	p.K584E	LRRCC1_ENST00000414626.2_Missense_Mutation_p.K564E	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	584					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.K564E(2)|p.K584E(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TCTTGCATTGAAAGAACAGGA	0.358																																							uc003ycw.2		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(1750-1752)AAA>GAA		sodium channel associated protein 2 isoform a							76.0	72.0	73.0					8																	86042277		1849	4088	5937	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86042277A>G	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.1750A>G	8.37:g.86042277A>G	ENSP00000353538:p.Lys584Glu					LRRCC1_uc010lzz.1_RNA|LRRCC1_uc010maa.1_Missense_Mutation_p.K285E|LRRCC1_uc003ycx.2_Missense_Mutation_p.K491E|LRRCC1_uc003ycy.2_Missense_Mutation_p.K564E	p.K584E	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN			11	1904	+			584			Potential.		B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.1750A>G	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.572999	0.86542	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.37411	1.2;1.2	5.45	5.45	0.79879	.	0.000000	0.42053	D	0.000775	T	0.49609	0.1567	L	0.60455	1.87	0.42095	D	0.991318	D;D;D;D	0.69078	0.997;0.986;0.997;0.968	P;P;P;P	0.61800	0.894;0.84;0.894;0.554	T	0.42916	-0.9423	10	0.09084	T	0.74	-33.2268	15.8264	0.78709	1.0:0.0:0.0:0.0	.	491;564;491;584	B4DV06;Q9C099-2;E9PE41;Q9C099	.;.;.;LRCC1_HUMAN	E	584;564	ENSP00000353538:K584E;ENSP00000394695:K564E	ENSP00000353538:K584E	K	+	1	0	LRRCC1	86229529	1.000000	0.71417	0.979000	0.43373	0.879000	0.50718	6.406000	0.73276	2.206000	0.71126	0.533000	0.62120	AAA		0.358	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		16	102	0	0	0	0.006122	0	16	102				
MATN2	4147	broad.mit.edu	37	8	99015950	99015950	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:99015950G>T	ENST00000520016.1	+	7	1390	c.1266G>T	c.(1264-1266)gaG>gaT	p.E422D	MATN2_ENST00000521689.1_Missense_Mutation_p.E422D|MATN2_ENST00000254898.5_Missense_Mutation_p.E422D|MATN2_ENST00000524308.1_Missense_Mutation_p.E381D|MATN2_ENST00000522025.2_Missense_Mutation_p.E138D			O00339	MATN2_HUMAN	matrilin 2	422	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.E422D(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			ACATGGAGGAGAGCTACTACT	0.577																																							uc003yic.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1264-1266)GAG>GAT		matrilin 2 isoform a precursor							79.0	87.0	84.0					8																	99015950		2158	4263	6421	SO:0001583	missense	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:99015950G>T	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.1266G>T	8.37:g.99015950G>T	ENSP00000430487:p.Glu422Asp					MATN2_uc003yib.1_Missense_Mutation_p.E422D|MATN2_uc010mbh.1_Missense_Mutation_p.E381D|MATN2_uc003yid.2_Missense_Mutation_p.E422D|MATN2_uc003yie.1_Missense_Mutation_p.E422D|MATN2_uc010mbi.1_Missense_Mutation_p.E255D	p.E422D	NM_002380	NP_002371	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		8	1497	+	Breast(36;1.43e-06)		422			EGF-like 5.		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	c.1266G>T	CCDS55264.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.979|2.979	-0.210671|-0.210671	0.06140|0.06140	.|.	.|.	ENSG00000132561|ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000522025;ENST00000520016;ENST00000522270|ENST00000518154;ENST00000521041	D;D;D;D;D;D|.	0.87103|.	-2.18;-2.18;-2.21;-2.1;-2.18;-2.1|.	5.52|5.52	-5.71|-5.71	0.02413|0.02413	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.431044|0.431044	0.21855|0.21855	N|N	0.068119|0.068119	T|.	0.08846|.	0.0219|.	N|N	0.12663|0.12663	0.25|0.25	0.18873|0.18873	N|N	0.999986|0.999986	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.09377|.	0.002;0.004;0.003;0.001|.	T|.	0.26360|.	-1.0105|.	10|.	0.15952|0.14252	T|T	0.53|0.57	-11.0615|-11.0615	0.1894|0.1894	0.00133|0.00133	0.2523:0.1942:0.2587:0.2948|0.2523:0.1942:0.2587:0.2948	.|.	422;422;422;422|.	E9PF03;O00339-2;O00339;Q8N2G3|.	.;.;MATN2_HUMAN;.|.	D|X	422;422;381;381;138;422;126|205;177	ENSP00000429977:E422D;ENSP00000254898:E422D;ENSP00000430221:E381D;ENSP00000429010:E138D;ENSP00000430487:E422D;ENSP00000429825:E126D|.	ENSP00000254898:E422D|ENSP00000429622:E205X	E|E	+|+	3|1	2|0	MATN2|MATN2	99085126|99085126	0.000000|0.000000	0.05858|0.05858	0.209000|0.209000	0.23619|0.23619	0.315000|0.315000	0.28087|0.28087	-1.049000|-1.049000	0.03514|0.03514	-0.739000|-0.739000	0.04809|0.04809	-0.521000|-0.521000	0.04368|0.04368	GAG|GAG		0.577	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			7	91	1	0	2.0095e-06	0.001984	2.18812e-06	7	91				
KLF10	7071	broad.mit.edu	37	8	103664623	103664623	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:103664623C>G	ENST00000285407.6	-	2	339	c.39G>C	c.(37-39)gaG>gaC	p.E13D	KLF10_ENST00000395884.3_Missense_Mutation_p.E2D	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	13					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E13D(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			CCATTCTTTCCTCCTATAAAA	0.303																																					Esophageal Squamous(16;495 519 2144 16528 44005)	Esophageal Squamous(16;495 519 2144 16528 44005)	uc011lhk.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(37-39)GAG>GAC		Kruppel-like factor 10 isoform a							83.0	87.0	86.0					8																	103664623		2203	4300	6503	SO:0001583	missense	7071				cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:103664623C>G	U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11810	protein-coding gene	gene with protein product		601878	"""TGFB inducible early growth response"""	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.39G>C	8.37:g.103664623C>G	ENSP00000285407:p.Glu13Asp					KLF10_uc011lhj.1_Missense_Mutation_p.E2D	p.E13D	NM_005655	NP_005646	Q13118	KLF10_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)		2	193	-	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		13					A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Missense_Mutation	SNP	ENST00000285407.6	37	c.39G>C	CCDS6294.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.343536	0.41498	.	.	ENSG00000155090	ENST00000285407;ENST00000395884	T;T	0.13657	2.59;2.57	5.9	-1.12	0.09808	.	0.164352	0.42420	D	0.000714	T	0.09774	0.0240	L	0.44542	1.39	0.29764	N	0.835293	B;B	0.32245	0.361;0.361	B;B	0.29785	0.107;0.068	T	0.15009	-1.0452	10	0.35671	T	0.21	.	8.9202	0.35607	0.0:0.5075:0.096:0.3966	.	13;2	Q13118;O75411	KLF10_HUMAN;.	D	13;2	ENSP00000285407:E13D;ENSP00000379222:E2D	ENSP00000285407:E13D	E	-	3	2	KLF10	103733799	0.831000	0.29352	0.985000	0.45067	0.468000	0.32798	-0.021000	0.12504	-0.073000	0.12842	-0.813000	0.03139	GAG		0.303	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379967.1			7	171	0	0	0	0.001984	0	7	171				
RIMS2	9699	broad.mit.edu	37	8	104927789	104927789	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:104927789A>C	ENST00000436393.2	+	5	1454	c.1213A>C	c.(1213-1215)Agt>Cgt	p.S405R	RIMS2_ENST00000262231.10_Missense_Mutation_p.S482R|RIMS2_ENST00000507740.1_Missense_Mutation_p.S435R|RIMS2_ENST00000406091.3_Missense_Mutation_p.S627R			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	705					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.S435R(2)|p.S710R(1)|p.S405R(1)|p.S627R(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAAAAAAGGAAGTTTAGCTGA	0.323										HNSCC(12;0.0054)																													uc003yls.2		NA																	5	Substitution - Missense(5)		lung(5)	ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(1213-1215)AGT>CGT		regulating synaptic membrane exocytosis 2							104.0	98.0	100.0					8																	104927789		1822	4079	5901	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104927789A>C	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1213A>C	8.37:g.104927789A>C	ENSP00000390665:p.Ser405Arg	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.S627R|RIMS2_uc003ylw.2_Missense_Mutation_p.S435R|RIMS2_uc003ylq.2_Missense_Mutation_p.S435R|RIMS2_uc003ylr.2_Missense_Mutation_p.S482R|RIMS2_uc003ylt.2_Missense_Mutation_p.S28R|RIMS2_uc003ylu.1_Missense_Mutation_p.S18R|RIMS2_uc003ylv.1_Missense_Mutation_p.S18R	p.S405R	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		5	1454	+			705			PDZ.		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.1213A>C		.	.	.	.	.	.	.	.	.	.	A	28.5	4.926631	0.92319	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000378492;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.98	5.98	0.97165	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.71879	0.3392	H	0.98178	4.165	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;1.0;0.999;0.999;0.999	D	0.83361	0.0002	9	0.87932	D	0	.	16.4781	0.84144	1.0:0.0:0.0:0.0	.	705;705;405;482;435;627	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	R	627;658;627;705;18;435;482;435;435;405	ENSP00000427018:S627R;ENSP00000384892:S627R;ENSP00000425205:S435R;ENSP00000262231:S482R;ENSP00000423559:S435R;ENSP00000386228:S435R;ENSP00000390665:S405R	ENSP00000262231:S482R	S	+	1	0	RIMS2	104996965	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.288000	0.76882	0.528000	0.53228	AGT		0.323	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		6	99	0	0	0	0.00308	0	6	99				
DCSTAMP	81501	broad.mit.edu	37	8	105361663	105361663	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:105361663C>T	ENST00000297581.2	+	2	932	c.883C>T	c.(883-885)Ctg>Ttg	p.L295L	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	295					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)		p.L295L(2)									AAACCTGGGGCTGTTTTTCCT	0.488																																							uc003ylx.1		NA																	2	Substitution - coding silent(2)		lung(2)	pancreas(2)|large_intestine(1)|ovary(1)	4						c.(883-885)CTG>TTG		dendritic cell-specific transmembrane protein							126.0	133.0	131.0					8																	105361663		2203	4300	6503	SO:0001819	synonymous_variant	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361663C>T	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.883C>T	8.37:g.105361663C>T							p.L295L	NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		2	932	+			295			Helical; (Potential).		B7ZVW2|E7ESG0|Q2M2D5	Silent	SNP	ENST00000297581.2	37	c.883C>T	CCDS6301.1																																																																																				0.488	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		62	264	0	0	0	0.01441	0	62	264				
PKHD1L1	93035	broad.mit.edu	37	8	110457293	110457293	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:110457293C>A	ENST00000378402.5	+	38	5299	c.5195C>A	c.(5194-5196)cCt>cAt	p.P1732H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1732	IPT/TIG 9.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.P1734H(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CATGGAGTGCCTGCCCAGTGC	0.433										HNSCC(38;0.096)																													uc003yne.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(5194-5196)CCT>CAT		fibrocystin L precursor							167.0	161.0	163.0					8																	110457293		1922	4144	6066	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110457293C>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5195C>A	8.37:g.110457293C>A	ENSP00000367655:p.Pro1732His	HNSCC(38;0.096)					p.P1732H	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	5299	+			1732			IPT/TIG 9.|Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.5195C>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528739	0.64860	.	.	ENSG00000205038	ENST00000378402	T	0.76316	-1.01	6.17	5.29	0.74685	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.136969	0.48767	D	0.000172	D	0.84211	0.5422	M	0.70275	2.135	0.25151	N	0.990424	D	0.62365	0.991	D	0.67231	0.95	T	0.76838	-0.2811	10	0.56958	D	0.05	.	8.0779	0.30726	0.0:0.7586:0.1604:0.0811	.	1732	Q86WI1	PKHL1_HUMAN	H	1732	ENSP00000367655:P1732H	ENSP00000367655:P1732H	P	+	2	0	PKHD1L1	110526469	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	2.719000	0.47244	2.941000	0.99782	0.655000	0.94253	CCT		0.433	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		150	210	1	0	1.13155e-68	0.01441	1.61886e-68	150	210				
PKHD1L1	93035	broad.mit.edu	37	8	110504206	110504206	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:110504206T>A	ENST00000378402.5	+	62	10323	c.10219T>A	c.(10219-10221)Tgg>Agg	p.W3407R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3407					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.W3409R(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTCAACTCTCTGGCATGCAGC	0.338										HNSCC(38;0.096)																													uc003yne.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(10219-10221)TGG>AGG		fibrocystin L precursor							40.0	39.0	39.0					8																	110504206		1798	4069	5867	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110504206T>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10219T>A	8.37:g.110504206T>A	ENSP00000367655:p.Trp3407Arg	HNSCC(38;0.096)					p.W3407R	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		62	10323	+			3407			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.10219T>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.157341	0.78114	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	T;T	0.79247	-1.25;-1.25	5.61	5.61	0.85477	Pectin lyase fold/virulence factor (1);	0.000000	0.85682	D	0.000000	D	0.88559	0.6469	M	0.85630	2.765	0.42193	D	0.99173	D	0.61080	0.989	D	0.72075	0.976	D	0.90394	0.4397	10	0.72032	D	0.01	.	13.7669	0.63002	0.0:0.0:0.0:1.0	.	3407	Q86WI1	PKHL1_HUMAN	R	3407;335	ENSP00000367655:W3407R;ENSP00000437376:W335R	ENSP00000367655:W3407R	W	+	1	0	PKHD1L1	110573382	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.185000	0.72013	2.129000	0.65627	0.460000	0.39030	TGG		0.338	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		6	21	0	0	0	0.001168	0	6	21				
CSMD3	114788	broad.mit.edu	37	8	113275890	113275890	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:113275890A>T	ENST00000297405.5	-	61	10084	c.9840T>A	c.(9838-9840)agT>agA	p.S3280R	CSMD3_ENST00000343508.3_Missense_Mutation_p.S3240R|CSMD3_ENST00000352409.3_Missense_Mutation_p.S3210R|CSMD3_ENST00000455883.2_Missense_Mutation_p.S3111R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3280	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S3240R(2)|p.S3280R(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTACTTCACCACTCCAGGTAC	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(9838-9840)AGT>AGA		CUB and Sushi multiple domains 3 isoform 1							94.0	80.0	85.0					8																	113275890		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113275890A>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9840T>A	8.37:g.113275890A>T	ENSP00000297405:p.Ser3280Arg	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.S2482R|CSMD3_uc003ynt.2_Missense_Mutation_p.S3240R|CSMD3_uc011lhx.1_Missense_Mutation_p.S3111R	p.S3280R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			61	9999	-			3280			Sushi 25.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9840T>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	13.27	2.186577	0.38609	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	5.76	4.61	0.57282	Complement control module (2);Sushi/SCR/CCP (3);	0.054580	0.64402	D	0.000001	T	0.65196	0.2668	M	0.67569	2.06	0.45477	D	0.998444	B;B;B	0.18461	0.009;0.011;0.028	B;B;B	0.25405	0.027;0.06;0.028	T	0.62572	-0.6826	10	0.52906	T	0.07	.	11.5193	0.50541	0.9305:0.0:0.0695:0.0	.	3111;3280;3240	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	R	3240;3280;2550;3111;3210	ENSP00000345799:S3240R;ENSP00000297405:S3280R;ENSP00000341558:S2550R;ENSP00000412263:S3111R;ENSP00000343124:S3210R	ENSP00000297405:S3280R	S	-	3	2	CSMD3	113345066	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.750000	0.38329	1.017000	0.39495	0.533000	0.62120	AGT		0.393	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		35	67	0	0	0	0.017118	0	35	67				
CSMD3	114788	broad.mit.edu	37	8	113275989	113275989	+	Silent	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:113275989T>A	ENST00000297405.5	-	61	9985	c.9741A>T	c.(9739-9741)acA>acT	p.T3247T	CSMD3_ENST00000343508.3_Silent_p.T3207T|CSMD3_ENST00000352409.3_Silent_p.T3177T|CSMD3_ENST00000455883.2_Silent_p.T3078T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3247	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T3247T(1)|p.T3207T(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGTCGAAATTTGTTCCTTCCA	0.453										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(9739-9741)ACA>ACT		CUB and Sushi multiple domains 3 isoform 1							93.0	83.0	86.0					8																	113275989		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113275989T>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9741A>T	8.37:g.113275989T>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.T2449T|CSMD3_uc003ynt.2_Silent_p.T3207T|CSMD3_uc011lhx.1_Silent_p.T3078T	p.T3247T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			61	9900	-			3247			Sushi 25.|Extracellular (Potential).		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.9741A>T	CCDS6315.1																																																																																				0.453	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		5	147	0	0	0	0.001168	0	5	147				
CSMD3	114788	broad.mit.edu	37	8	113651001	113651001	+	Silent	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:113651001A>G	ENST00000297405.5	-	21	3694	c.3450T>C	c.(3448-3450)taT>taC	p.Y1150Y	CSMD3_ENST00000343508.3_Silent_p.Y1110Y|CSMD3_ENST00000352409.3_Silent_p.Y1150Y|CSMD3_ENST00000455883.2_Silent_p.Y1046Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1150	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y1110Y(2)|p.Y1150Y(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGAAATTTCCATAGAGACCAG	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(3448-3450)TAT>TAC		CUB and Sushi multiple domains 3 isoform 1							94.0	93.0	94.0					8																	113651001		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113651001A>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3450T>C	8.37:g.113651001A>G		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.Y422Y|CSMD3_uc003ynt.2_Silent_p.Y1110Y|CSMD3_uc011lhx.1_Silent_p.Y1046Y	p.Y1150Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			21	3609	-			1150			Extracellular (Potential).|CUB 6.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.3450T>C	CCDS6315.1																																																																																				0.383	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		26	90	0	0	0	0.008361	0	26	90				
EIF3H	8667	broad.mit.edu	37	8	117658741	117658741	+	Silent	SNP	C	C	A	rs201413928		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:117658741C>A	ENST00000276682.4	-	9	1738	c.972G>T	c.(970-972)ccG>ccT	p.P324P	EIF3H_ENST00000521861.1_Silent_p.P310P					eukaryotic translation initiation factor 3, subunit H									p.P310P(2)		large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					TCCTGGCAGGCGGCTGTGGTG	0.552																																							uc003yoa.2		NA																	2	Substitution - coding silent(2)		lung(2)	lung(3)	3						c.(928-930)CCG>CCT		eukaryotic translation initiation factor 3,							151.0	161.0	158.0					8																	117658741		2203	4300	6503	SO:0001819	synonymous_variant	8667				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr8:117658741C>A	U54559	CCDS6319.1	8q24.11	2007-07-27	2007-07-27	2007-07-27	ENSG00000147677	ENSG00000147677			3273	protein-coding gene	gene with protein product		603912	"""eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa"""	EIF3S3		9341143	Standard	NM_003756		Approved	eIF3-gamma, eIF3-p40, eIF3h	uc003yoa.3	O15372	OTTHUMG00000164919	ENST00000276682.4:c.972G>T	8.37:g.117658741C>A						EIF3H_uc003yob.2_Silent_p.P324P	p.P310P	NM_003756	NP_003747	O15372	EIF3H_HUMAN			7	956	-	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)		310						Silent	SNP	ENST00000276682.4	37	c.930G>T																																																																																					0.552	EIF3H-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000380913.1	NM_003756		86	308	1	0	1.67174e-50	0.01441	2.36579e-50	86	308				
HAS2	3037	broad.mit.edu	37	8	122641020	122641020	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:122641020C>T	ENST00000303924.4	-	2	1098	c.561G>A	c.(559-561)tgG>tgA	p.W187*		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	187					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)	p.W187*(1)|p.W187C(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TTTTTCCACCCCATTTTTGCA	0.463																																							uc003yph.2		NA																HAS2/PLAG1(10)	2	Substitution - Missense(1)|Substitution - Nonsense(1)	p.W187C(1)	ovary(1)|lung(1)	soft_tissue(10)|ovary(5)	15						c.(559-561)TGG>TGA		hyaluronan synthase 2							232.0	210.0	217.0					8																	122641020		2203	4300	6503	SO:0001587	stop_gained	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122641020C>T	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.561G>A	8.37:g.122641020C>T	ENSP00000306991:p.Trp187*						p.W187*	NM_005328	NP_005319	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		2	1099	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		187			Cytoplasmic (Potential).		Q32MM3	Nonsense_Mutation	SNP	ENST00000303924.4	37	c.561G>A	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	C	42	9.584913	0.99211	.	.	ENSG00000170961	ENST00000303924;ENST00000443194	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-11.0399	20.5827	0.99408	0.0:1.0:0.0:0.0	.	.	.	.	X	187	.	ENSP00000306991:W187X	W	-	3	0	HAS2	122710201	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.772000	0.85439	2.941000	0.99782	0.655000	0.94253	TGG		0.463	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		75	326	0	0	0	0.01441	0	75	326				
ST3GAL1	6482	broad.mit.edu	37	8	134478232	134478232	+	Silent	SNP	C	C	A	rs574994544		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:134478232C>A	ENST00000319914.5	-	5	1435	c.408G>T	c.(406-408)tcG>tcT	p.S136S	ST3GAL1_ENST00000521180.1_Silent_p.S136S|ST3GAL1_ENST00000522652.1_Silent_p.S136S|ST3GAL1_ENST00000399640.2_Silent_p.S136S			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	136					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)	p.S136S(2)		endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GGCAGCCCACCGACCTCTTCT	0.577																																							uc003yuk.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(406-408)TCG>TCT		ST3 beta-galactoside alpha-2,3-sialyltransferase							81.0	79.0	80.0					8																	134478232		2203	4300	6503	SO:0001819	synonymous_variant	6482				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr8:134478232C>A	L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"""Sialyltransferases"""	10862	protein-coding gene	gene with protein product	"""ST3Gal I"""	607187	"""sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.408G>T	8.37:g.134478232C>A						ST3GAL1_uc003yum.2_Silent_p.S136S	p.S136S	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.00721)		6	1237	-	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		136			Lumenal (Potential).		O60677|Q9UN51	Silent	SNP	ENST00000319914.5	37	c.408G>T	CCDS6373.1																																																																																				0.577	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033		34	114	1	0	1.08052e-11	0.019004	1.27196e-11	34	114				
FAM135B	51059	broad.mit.edu	37	8	139144901	139144901	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:139144901C>A	ENST00000395297.1	-	20	4326	c.4156G>T	c.(4156-4158)Gtg>Ttg	p.V1386L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1386								p.V1386L(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)			GAATCCAGCACAGCGATGTGA	0.522										HNSCC(54;0.14)																													uc003yuy.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(7)|skin(2)	9						c.(4156-4158)GTG>TTG		hypothetical protein LOC51059							192.0	202.0	199.0					8																	139144901		1963	4156	6119	SO:0001583	missense	51059							g.chr8:139144901C>A	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.4156G>T	8.37:g.139144901C>A	ENSP00000378710:p.Val1386Leu	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.V1287L|FAM135B_uc003yuz.2_RNA	p.V1386L	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		20	4327	-	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)		1386					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.4156G>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626694	0.87560	.	.	ENSG00000147724	ENST00000395297	T	0.16324	2.35	5.74	4.86	0.63082	.	0.000000	0.64402	D	0.000001	T	0.39989	0.1099	L	0.61387	1.9	0.53688	D	0.99997	D	0.64830	0.994	D	0.72625	0.978	T	0.30679	-0.9970	10	0.87932	D	0	-14.7797	15.8583	0.79000	0.0:0.8641:0.1359:0.0	.	1386	Q49AJ0	F135B_HUMAN	L	1386	ENSP00000378710:V1386L	ENSP00000378710:V1386L	V	-	1	0	FAM135B	139214083	1.000000	0.71417	0.910000	0.35882	0.754000	0.42855	7.818000	0.86416	1.430000	0.47334	-0.274000	0.10170	GTG		0.522	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		173	229	1	0	4.18953e-109	0.01441	6.03785e-109	173	229				
FAM135B	51059	broad.mit.edu	37	8	139164526	139164527	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:139164526_139164527CC>AA	ENST00000395297.1	-	13	2361_2362	c.2191_2192GG>TT	c.(2191-2193)GGa>TTa	p.G731L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	731								p.G731L(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)			TTCTGTGTGTCCACCCTCTAGG	0.559										HNSCC(54;0.14)																													uc003yuy.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(7)|skin(2)	9						c.(2191-2193)GGA>TTA		hypothetical protein LOC51059																																				SO:0001583	missense	51059							g.chr8:139164526_139164527CC>AA	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.2191_2192delinsAA	8.37:g.139164526_139164527delinsAA	ENSP00000378710:p.Gly731Leu	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.G632L|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.G293L|FAM135B_uc003yvb.2_Missense_Mutation_p.G293L	p.G731L	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2362_2363	-	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)		731					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	DNP	ENST00000395297.1	37	c.2191_2192GG>TT	CCDS6375.2																																																																																				0.559	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		31	57	0	0	0	0.004672	0	31	57				
FAM135B	51059	broad.mit.edu	37	8	139268979	139268979	+	Silent	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:139268979T>A	ENST00000395297.1	-	5	491	c.321A>T	c.(319-321)gtA>gtT	p.V107V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	107										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)			GTTGAAAATCTACTTCACTCA	0.438										HNSCC(54;0.14)																													uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(319-321)GTA>GTT		hypothetical protein LOC51059							112.0	105.0	107.0					8																	139268979		1947	4144	6091	SO:0001819	synonymous_variant	51059							g.chr8:139268979T>A	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.321A>T	8.37:g.139268979T>A		HNSCC(54;0.14)				FAM135B_uc003yux.2_Silent_p.V8V|FAM135B_uc003yuz.2_RNA	p.V107V	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		5	492	-	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)		107					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.321A>T	CCDS6375.2																																																																																				0.438	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		4	64	0	0	0	0.009096	0	4	64				
CPSF1	29894	broad.mit.edu	37	8	145623236	145623236	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:145623236A>G	ENST00000349769.3	-	20	2100	c.2006T>C	c.(2005-2007)cTg>cCg	p.L669P	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	669					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)	p.L669P(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			ACTCTTCAGCAGGAACATGGT	0.677																																					NSCLC(133;1088 1848 27708 34777 35269)	NSCLC(133;1088 1848 27708 34777 35269)	uc003zcj.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(2005-2007)CTG>CCG		cleavage and polyadenylation specific factor 1,							73.0	71.0	71.0					8																	145623236		2203	4299	6502	SO:0001583	missense	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145623236A>G	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.2006T>C	8.37:g.145623236A>G	ENSP00000339353:p.Leu669Pro						p.L669P	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		20	2081	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		669					Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	c.2006T>C	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.630235	0.46944	.	.	ENSG00000071894	ENST00000349769	T	0.29142	1.58	5.43	5.43	0.79202	.	0.151211	0.44902	D	0.000411	T	0.23014	0.0556	N	0.08118	0	0.58432	D	0.999999	B	0.26775	0.159	B	0.40602	0.334	T	0.21965	-1.0230	10	0.32370	T	0.25	-12.1382	11.8408	0.52353	1.0:0.0:0.0:0.0	.	669	Q10570	CPSF1_HUMAN	P	669	ENSP00000339353:L669P	ENSP00000339353:L669P	L	-	2	0	CPSF1	145594044	0.997000	0.39634	1.000000	0.80357	0.709000	0.40893	3.379000	0.52440	2.054000	0.61138	0.402000	0.26972	CTG		0.677	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		18	95	0	0	0	0.01892	0	18	95				
PTPRD	5789	broad.mit.edu	37	9	8486043	8486043	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:8486043A>T	ENST00000381196.4	-	25	3317	c.2774T>A	c.(2773-2775)cTt>cAt	p.L925H	PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000356435.5_Missense_Mutation_p.L925H|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.L925H|PTPRD_ENST00000358503.5_Missense_Mutation_p.L903H|PTPRD_ENST00000360074.4_Missense_Mutation_p.L912H|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000397606.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	925	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.L925H(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTCTGAGTGAAGGTTTTGAGG	0.478										TSP Lung(15;0.13)																													uc003zkk.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(2773-2775)CTT>CAT		protein tyrosine phosphatase, receptor type, D							133.0	128.0	130.0					9																	8486043		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8486043A>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2774T>A	9.37:g.8486043A>T	ENSP00000370593:p.Leu925His	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.L916H|PTPRD_uc003zkm.2_Missense_Mutation_p.L912H|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	p.L925H	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	27	3485	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	925			Fibronectin type-III 7.|Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.2774T>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	A	14.72	2.619961	0.46736	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.68	5.68	0.88126	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.057235	0.64402	D	0.000002	D	0.82559	0.5063	H	0.96889	3.9	0.58432	D	0.99999	B;D;B	0.56287	0.169;0.975;0.226	B;P;B	0.53722	0.143;0.733;0.213	D	0.88801	0.3285	9	.	.	.	.	15.9354	0.79698	1.0:0.0:0.0:0.0	.	912;925;925	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	H	925;925;912;903;925	ENSP00000370593:L925H;ENSP00000348812:L925H;ENSP00000353187:L912H;ENSP00000351293:L903H;ENSP00000438164:L925H	.	L	-	2	0	PTPRD	8476043	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.339000	0.96797	2.182000	0.69389	0.533000	0.62120	CTT		0.478	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			23	68	0	0	0	0.016522	0	23	68				
PTPLAD2	401494	broad.mit.edu	37	9	21011691	21011691	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:21011691G>T	ENST00000495827.2	-	5	432	c.387C>A	c.(385-387)taC>taA	p.Y129*	PTPLAD2_ENST00000513293.2_Nonsense_Mutation_p.Y129*	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2	129					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)	p.Y129*(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TGCTATAAGTGTACCTGAAAG	0.368																																							uc010miq.1		NA																	2	Substitution - Nonsense(2)		lung(2)	skin(1)	1						c.(385-387)TAC>TAA		protein tyrosine phosphatase-like A domain							61.0	54.0	56.0					9																	21011691		1868	4108	5976	SO:0001587	stop_gained	401494				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity	g.chr9:21011691G>T		CCDS43791.1	9p21.3	2008-02-05			ENSG00000188921	ENSG00000188921			20920	protein-coding gene	gene with protein product		615941					Standard	NM_001010915		Approved	Em:AL662879.1, OTTHUMG00000021016	uc010mir.1	Q5VWC8	OTTHUMG00000021016	ENST00000495827.2:c.387C>A	9.37:g.21011691G>T	ENSP00000419503:p.Tyr129*					PTPLAD2_uc003zoj.1_Nonsense_Mutation_p.Y92*|PTPLAD2_uc010mir.1_Nonsense_Mutation_p.Y129*	p.Y129*	NM_001010915	NP_001010915	Q5VWC8	HACD4_HUMAN		Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)	5	433	-			129			Helical; (Potential).		Q7Z385	Nonsense_Mutation	SNP	ENST00000495827.2	37	c.387C>A	CCDS43791.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227853	0.79576	.	.	ENSG00000188921	ENST00000513293;ENST00000495827	.	.	.	5.7	2.86	0.33363	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.7852	8.576	0.33598	0.2967:0.0:0.7033:0.0	.	.	.	.	X	129	.	ENSP00000419503:Y129X	Y	-	3	2	PTPLAD2	21001691	1.000000	0.71417	0.999000	0.59377	0.837000	0.47467	1.180000	0.32005	0.765000	0.33221	0.491000	0.48974	TAC		0.368	PTPLAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055434.3	NM_001010915		10	30	1	0	0.00829132	0.008291	0.00855315	10	30				
LINGO2	158038	broad.mit.edu	37	9	27949535	27949535	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:27949535G>T	ENST00000379992.2	-	6	1584	c.1135C>A	c.(1135-1137)Caa>Aaa	p.Q379K	LINGO2_ENST00000308675.3_Missense_Mutation_p.Q379K	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	379	LRRCT.					integral component of membrane (GO:0016021)		p.Q379K(4)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CACATAGGTTGCTGGCCACCA	0.517																																							uc003zqu.1		NA																	4	Substitution - Missense(4)		lung(4)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(1135-1137)CAA>AAA		leucine rich repeat and Ig domain containing 2							42.0	42.0	42.0					9																	27949535		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27949535G>T	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1135C>A	9.37:g.27949535G>T	ENSP00000369328:p.Gln379Lys					LINGO2_uc010mjf.1_Missense_Mutation_p.Q379K|LINGO2_uc003zqv.1_Missense_Mutation_p.Q379K	p.Q379K	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	2	1329	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	379			LRRCT.|Extracellular (Potential).		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.1135C>A	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918767	0.33908	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.57107	0.42;0.42	6.16	6.16	0.99307	Cysteine-rich flanking region, C-terminal (1);	0.056069	0.64402	D	0.000001	T	0.62109	0.2401	M	0.84773	2.715	0.80722	D	1	B	0.25563	0.129	B	0.25291	0.059	T	0.58561	-0.7615	9	.	.	.	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	379	Q7L985	LIGO2_HUMAN	K	379	ENSP00000369328:Q379K;ENSP00000310126:Q379K	.	Q	-	1	0	LINGO2	27939535	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.002000	0.88514	2.937000	0.99478	0.650000	0.86243	CAA		0.517	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		30	27	1	0	5.77227e-19	0.008361	7.35847e-19	30	27				
TAF1L	138474	broad.mit.edu	37	9	32630480	32630480	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:32630480G>T	ENST00000242310.4	-	1	5187	c.5098C>A	c.(5098-5100)Cca>Aca	p.P1700T	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	1700					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.P1700T(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)		TGTTTTTCTGGAGTGGCAGTG	0.463																																							uc003zrg.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(5098-5100)CCA>ACA		TBP-associated factor RNA polymerase 1-like							165.0	152.0	157.0					9																	32630480		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.chr9:32630480G>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.5098C>A	9.37:g.32630480G>T	ENSP00000418379:p.Pro1700Thr					uc003zrh.1_5'Flank	p.P1700T	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	5188	-			1700					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.5098C>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368032	0.24771	.	.	ENSG00000122728	ENST00000242310	T	0.07444	3.19	0.479	0.479	0.16796	.	0.824898	0.11475	N	0.560285	T	0.04770	0.0129	N	0.14661	0.345	0.24826	N	0.992551	B	0.02656	0.0	B	0.06405	0.002	T	0.38908	-0.9639	10	0.40728	T	0.16	.	6.6915	0.23174	2.0E-4:0.0:0.9998:0.0	.	1700	Q8IZX4	TAF1L_HUMAN	T	1700	ENSP00000418379:P1700T	ENSP00000418379:P1700T	P	-	1	0	TAF1L	32620480	1.000000	0.71417	0.947000	0.38551	0.232000	0.25224	1.126000	0.31344	0.507000	0.28148	0.195000	0.17529	CCA		0.463	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			86	202	1	0	1.42954e-44	0.01441	1.99779e-44	86	202				
KIF24	347240	broad.mit.edu	37	9	34257209	34257209	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:34257209T>G	ENST00000402558.2	-	10	2420	c.2396A>C	c.(2395-2397)cAg>cCg	p.Q799P	KIF24_ENST00000379166.2_Missense_Mutation_p.Q799P|KIF24_ENST00000345050.2_Missense_Mutation_p.Q665P|KIF24_ENST00000379174.3_Missense_Mutation_p.Q665P			Q5T7B8	KIF24_HUMAN	kinesin family member 24	799					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q281P(2)|p.Q799P(2)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			ATTCGTGAGCTGACCCTCTGG	0.478																																							uc003zua.3		NA																	4	Substitution - Missense(4)		lung(4)	central_nervous_system(1)	1						c.(2395-2397)CAG>CCG		kinesin family member 24							85.0	90.0	88.0					9																	34257209		2203	4300	6503	SO:0001583	missense	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34257209T>G	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.2396A>C	9.37:g.34257209T>G	ENSP00000384433:p.Gln799Pro					KIF24_uc010mkb.2_Intron	p.Q799P	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		11	2516	-			799					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	c.2396A>C	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	T	11.62	1.692342	0.30052	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	5.46	-2.16	0.07080	.	0.592156	0.14204	N	0.334511	T	0.27098	0.0664	M	0.62723	1.935	0.09310	N	1	D	0.56521	0.976	B	0.41619	0.361	T	0.18178	-1.0345	10	0.52906	T	0.07	.	2.5912	0.04843	0.113:0.2877:0.1152:0.4842	.	799	Q5T7B8	KIF24_HUMAN	P	799;665;799;665;799	ENSP00000384433:Q799P;ENSP00000368472:Q665P;ENSP00000368464:Q799P;ENSP00000340179:Q665P	ENSP00000340179:Q665P	Q	-	2	0	KIF24	34247209	0.010000	0.17322	0.101000	0.21167	0.097000	0.18754	-0.061000	0.11693	-0.278000	0.09180	0.460000	0.39030	CAG		0.478	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			69	157	0	0	0	0.01441	0	69	157				
PIGO	84720	broad.mit.edu	37	9	35092310	35092310	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:35092310A>C	ENST00000378617.3	-	7	1968	c.1574T>G	c.(1573-1575)tTt>tGt	p.F525C	PIGO_ENST00000492770.1_5'Flank|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.F525C|PIGO_ENST00000298004.5_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	525					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.F525C(2)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TTTCCACAGAAAAGGGAGGAA	0.582																																							uc003zwd.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1573-1575)TTT>TGT		phosphatidylinositol glycan anchor biosynthesis,							42.0	45.0	44.0					9																	35092310		2203	4300	6503	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35092310A>C	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.1574T>G	9.37:g.35092310A>C	ENSP00000367880:p.Phe525Cys					PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Intron|PIGO_uc003zwf.2_Intron|PIGO_uc003zwg.1_Missense_Mutation_p.F88C	p.F525C	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	1970	-			525			Helical; (Potential).		B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.1574T>G	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	A	6.966	0.548205	0.13312	.	.	ENSG00000165282	ENST00000378617;ENST00000341666	T;T	0.56776	0.44;0.44	5.38	4.24	0.50183	.	0.141725	0.64402	D	0.000003	T	0.43122	0.1233	L	0.39397	1.21	0.80722	D	1	B	0.19200	0.034	B	0.17433	0.018	T	0.29518	-1.0009	10	0.42905	T	0.14	-19.0574	11.1572	0.48495	0.9282:0.0:0.0718:0.0	.	525	Q8TEQ8	PIGO_HUMAN	C	525	ENSP00000367880:F525C;ENSP00000339382:F525C	ENSP00000339382:F525C	F	-	2	0	PIGO	35082310	1.000000	0.71417	0.641000	0.29422	0.174000	0.22865	2.100000	0.41777	1.067000	0.40740	0.533000	0.62120	TTT		0.582	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		69	45	0	0	0	0.01441	0	69	45				
FRMPD1	22844	broad.mit.edu	37	9	37724227	37724227	+	Silent	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:37724227T>C	ENST00000539465.1	+	7	1115	c.522T>C	c.(520-522)aaT>aaC	p.N174N	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.N174N|FRMPD1_ENST00000536622.1_5'UTR|FRMPD1_ENST00000541302.1_Silent_p.N43N			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	174						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.N174N(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TCCAGGGTAATTCTCTGCTGT	0.443																																							uc004aag.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(520-522)AAT>AAC		FERM and PDZ domain containing 1							115.0	100.0	105.0					9																	37724227		2203	4300	6503	SO:0001819	synonymous_variant	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37724227T>C	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.522T>C	9.37:g.37724227T>C						FRMPD1_uc004aah.1_Silent_p.N174N|FRMPD1_uc011lqm.1_5'UTR|FRMPD1_uc011lqn.1_Silent_p.N43N	p.N174N	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	7	566	+			174					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Silent	SNP	ENST00000539465.1	37	c.522T>C	CCDS6612.1																																																																																				0.443	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		83	38	0	0	0	0.01441	0	83	38				
ALDH1B1	219	broad.mit.edu	37	9	38396791	38396791	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:38396791G>T	ENST00000377698.3	+	2	1199	c.1046G>T	c.(1045-1047)gGg>gTg	p.G349V		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	349					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)	p.G349V(2)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		AGGAAAGTGGGGAACCCCTTT	0.572																																							uc004aay.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1045-1047)GGG>GTG		aldehyde dehydrogenase 1B1 precursor	NADH(DB00157)						53.0	57.0	56.0					9																	38396791		2203	4300	6503	SO:0001583	missense	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38396791G>T	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.1046G>T	9.37:g.38396791G>T	ENSP00000366927:p.Gly349Val						p.G349V	NM_000692	NP_000683	P30837	AL1B1_HUMAN		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	2	1158	+			349					B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	37	c.1046G>T	CCDS6615.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086213	0.76642	.	.	ENSG00000137124	ENST00000377698;ENST00000540055	D	0.85013	-1.93	5.67	5.67	0.87782	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.64402	D	0.000005	D	0.95576	0.8562	H	0.98218	4.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97025	0.9746	10	0.87932	D	0	.	17.2643	0.87081	0.0:0.0:1.0:0.0	.	349	P30837	AL1B1_HUMAN	V	349;50	ENSP00000366927:G349V	ENSP00000366927:G349V	G	+	2	0	ALDH1B1	38386791	1.000000	0.71417	0.973000	0.42090	0.962000	0.63368	9.098000	0.94202	2.669000	0.90835	0.655000	0.94253	GGG		0.572	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			59	34	1	0	1.93748e-29	0.01441	2.59655e-29	59	34				
ZNF658	26149	broad.mit.edu	37	9	40772612	40772612	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:40772612C>A	ENST00000602553.1	-	5	2957	c.2663G>T	c.(2662-2664)gGg>gTg	p.G888V	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Missense_Mutation_p.G888V			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	888					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.G888V(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GAAAGTCTTCCCACAGTCATT	0.453																																							uc004abs.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2662-2664)GGG>GTG		zinc finger protein 658							24.0	23.0	23.0					9																	40772612		1502	3168	4670	SO:0001583	missense	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40772612C>A	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.2663G>T	9.37:g.40772612C>A	ENSP00000473484:p.Gly888Val					ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.G888V	p.G888V	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	2815	-			888			C2H2-type 19; degenerate.		Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	c.2663G>T	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	c	14.52	2.558534	0.45590	.	.	ENSG00000196409	ENST00000377626	T	0.23754	1.89	1.97	1.97	0.26223	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57489	0.2057	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.67154	-0.5742	9	0.72032	D	0.01	.	10.0363	0.42131	0.0:1.0:0.0:0.0	.	888	Q5TYW1	ZN658_HUMAN	V	888	ENSP00000366853:G888V	ENSP00000366853:G888V	G	-	2	0	ZNF658	40762612	0.992000	0.36948	0.565000	0.28409	0.990000	0.78478	2.978000	0.49305	1.453000	0.47775	0.518000	0.50308	GGG		0.453	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		73	105	1	0	1.3009e-50	0.01441	1.84432e-50	73	105				
SPATA31A6	389730	broad.mit.edu	37	9	43624943	43624943	+	Missense_Mutation	SNP	G	G	T	rs550048106		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:43624943G>T	ENST00000332857.6	-	4	3772	c.3744C>A	c.(3742-3744)caC>caA	p.H1248Q	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1248					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AGTAGAAGAGGTGCCTGTGGT	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		10390	0.0		0.0	False		,,,				2504	0.001						uc011lrb.1		NA																	0					0						c.(3742-3744)CAC>CAA		hypothetical protein LOC389730							13.0	11.0	12.0					9																	43624943		530	1376	1906	SO:0001583	missense	389730					integral to membrane		g.chr9:43624943G>T		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3744C>A	9.37:g.43624943G>T	ENSP00000329825:p.His1248Gln						p.H1248Q	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	3773	-			1248						Missense_Mutation	SNP	ENST00000332857.6	37	c.3744C>A	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	2.040	-0.420214	0.04734	.	.	ENSG00000185775	ENST00000332857	T	0.03580	3.88	2.04	-4.08	0.03963	.	2.892080	0.01399	N	0.013533	T	0.03390	0.0098	L	0.47716	1.5	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42241	-0.9463	10	0.21540	T	0.41	-0.1681	0.1287	0.00072	0.2242:0.201:0.2415:0.3333	.	1248	Q5VVP1	F75A6_HUMAN	Q	1248	ENSP00000329825:H1248Q	ENSP00000329825:H1248Q	H	-	3	2	FAM75A6	43564939	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.502000	0.02279	-0.871000	0.04042	0.383000	0.25322	CAC		0.502	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		8	271	1	0	0.000157383	0.00308	0.000165845	8	271				
SPATA31D1	389763	broad.mit.edu	37	9	84607513	84607513	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:84607513C>T	ENST00000344803.2	+	4	2175	c.2128C>T	c.(2128-2130)Ctg>Ttg	p.L710L		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	710					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.L710L(4)									CCATGAGTCTCTGTCATTGCT	0.483																																							uc004amn.2		NA																	4	Substitution - coding silent(4)		lung(4)		0						c.(2128-2130)CTG>TTG		hypothetical protein LOC389763							44.0	45.0	45.0					9																	84607513		1831	4077	5908	SO:0001819	synonymous_variant	389763					integral to membrane		g.chr9:84607513C>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2128C>T	9.37:g.84607513C>T							p.L710L	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	2175	+			710						Silent	SNP	ENST00000344803.2	37	c.2128C>T	CCDS47986.1																																																																																				0.483	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		37	47	0	0	0	0.017118	0	37	47				
HNRNPK	3190	broad.mit.edu	37	9	86592668	86592668	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:86592668T>C	ENST00000376264.2	-	4	350	c.92A>G	c.(91-93)cAa>cGa	p.Q31R	HNRNPK_ENST00000351839.3_Missense_Mutation_p.Q31R|RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000376281.4_Missense_Mutation_p.Q31R|HNRNPK_ENST00000376263.3_Missense_Mutation_p.Q31R|HNRNPK_ENST00000360384.5_Missense_Mutation_p.Q31R	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	31	Necessary for interaction with DDX1.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|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)|single-stranded DNA binding (GO:0003697)	p.Q31R(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						TTTAAATGCTTGTTCCTCTTC	0.358																																							uc004ang.3		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(91-93)CAA>CGA		heterogeneous nuclear ribonucleoprotein K							70.0	68.0	69.0					9																	86592668		2202	4300	6502	SO:0001583	missense	3190				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding	g.chr9:86592668T>C		CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"""transformation upregulated nuclear protein"""	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.92A>G	9.37:g.86592668T>C	ENSP00000365440:p.Gln31Arg					HNRNPK_uc011lsw.1_5'Flank|HNRNPK_uc004and.3_5'Flank|HNRNPK_uc004ank.3_Missense_Mutation_p.Q31R|HNRNPK_uc004anf.3_Missense_Mutation_p.Q31R|HNRNPK_uc004anh.3_Missense_Mutation_p.Q31R|HNRNPK_uc011lsx.1_Missense_Mutation_p.Q31R|HNRNPK_uc004ani.3_Missense_Mutation_p.Q31R|HNRNPK_uc004anj.3_Missense_Mutation_p.Q31R|HNRNPK_uc004ann.3_Missense_Mutation_p.Q31R|HNRNPK_uc004anl.3_Missense_Mutation_p.Q31R|HNRNPK_uc004anm.3_Missense_Mutation_p.Q31R|RMI1_uc004anq.3_5'Flank|RMI1_uc004anr.3_5'Flank	p.Q31R	NM_031262	NP_112552	P61978	HNRPK_HUMAN			4	316	-			31			Necessary for interaction with DDX1.		Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Missense_Mutation	SNP	ENST00000376264.2	37	c.92A>G	CCDS6667.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.407051	0.83230	.	.	ENSG00000165119	ENST00000376281;ENST00000376264;ENST00000376263;ENST00000376268;ENST00000351839;ENST00000435158;ENST00000360384;ENST00000376258;ENST00000457156	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.03	5.03	0.67393	ROK, N-terminal (1);	0.109437	0.64402	D	0.000006	T	0.54191	0.1843	L	0.29908	0.895	0.48288	D	0.999625	D;P;D;D;P;D;P;P	0.65815	0.979;0.833;0.995;0.995;0.734;0.992;0.822;0.775	D;B;D;D;P;D;B;P	0.79108	0.928;0.324;0.967;0.992;0.476;0.979;0.42;0.61	T	0.46582	-0.9181	10	0.15952	T	0.53	-2.9788	15.1118	0.72362	0.0:0.0:0.0:1.0	.	31;31;31;31;31;31;31;31	B4DUQ1;Q5T6W5;Q5EC54;B4DFF1;P61978-2;P61978-3;P61978;Q6IBN1	.;.;.;.;.;.;HNRPK_HUMAN;.	R	31	ENSP00000365458:Q31R;ENSP00000365440:Q31R;ENSP00000365439:Q31R;ENSP00000317788:Q31R;ENSP00000353552:Q31R	ENSP00000317788:Q31R	Q	-	2	0	HNRNPK	85782488	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.666000	0.83877	2.018000	0.59344	0.529000	0.55759	CAA		0.358	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052846.2			17	63	0	0	0	0.006122	0	17	63				
RMI1	80010	broad.mit.edu	37	9	86617462	86617462	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:86617462C>G	ENST00000325875.3	+	3	1893	c.1561C>G	c.(1561-1563)Ctc>Gtc	p.L521V		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	521					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AACTGGAAATCTCTCAAGTTC	0.378																																							uc004anq.3		NA																	0					0						c.(1561-1563)CTC>GTC		RMI1, RecQ mediated genome instability 1,							181.0	181.0	181.0					9																	86617462		2203	4300	6503	SO:0001583	missense	80010				DNA replication	nucleus		g.chr9:86617462C>G	AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.1561C>G	9.37:g.86617462C>G	ENSP00000317039:p.Leu521Val					RMI1_uc004anr.3_Missense_Mutation_p.L521V|RMI1_uc004anp.3_Missense_Mutation_p.L521V|RMI1_uc004ans.3_Missense_Mutation_p.L521V	p.L521V	NM_024945	NP_079221	Q9H9A7	RMI1_HUMAN			3	1969	+			521					Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	ENST00000325875.3	37	c.1561C>G	CCDS6669.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997316	0.54147	.	.	ENSG00000178966	ENST00000325875	T	0.44482	0.92	5.29	4.38	0.52667	.	0.148834	0.47093	D	0.000253	T	0.45013	0.1321	M	0.65498	2.005	0.43317	D	0.995336	P	0.52577	0.954	B	0.43251	0.413	T	0.48811	-0.9002	9	.	.	.	-0.0697	15.4606	0.75353	0.1401:0.8599:0.0:0.0	.	521	Q9H9A7	RMI1_HUMAN	V	521	ENSP00000317039:L521V	.	L	+	1	0	RMI1	85807282	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.747000	0.74872	1.315000	0.45114	0.563000	0.77884	CTC		0.378	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945		5	242	0	0	0	0.001168	0	5	242				
SPTLC1	10558	broad.mit.edu	37	9	94794786	94794786	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:94794786C>G	ENST00000262554.2	-	15	1388	c.1383G>C	c.(1381-1383)gcG>gcC	p.A461A		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	461					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)	p.A461A(2)		breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	TGATGGTGGACGCAGCTCTCT	0.567																																							uc004arl.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|breast(1)	2						c.(1381-1383)GCG>GCC		serine palmitoyltransferase subunit 1 isoform a	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						181.0	145.0	158.0					9																	94794786		2203	4300	6503	SO:0001819	synonymous_variant	10558					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr9:94794786C>G	Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.1383G>C	9.37:g.94794786C>G						SPTLC1_uc011ltv.1_Missense_Mutation_p.V451L	p.A461A	NM_006415	NP_006406	O15269	SPTC1_HUMAN			15	1421	-			461			Cytoplasmic (Potential).		A8K681|Q5VWB4|Q96IX6	Silent	SNP	ENST00000262554.2	37	c.1383G>C	CCDS6692.1																																																																																				0.567	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415		11	111	0	0	0	0.008291	0	11	111				
COL15A1	1306	broad.mit.edu	37	9	101818644	101818644	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:101818644G>T	ENST00000375001.3	+	35	3718	c.3295G>T	c.(3295-3297)Ggg>Tgg	p.G1099W		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1099	Triple-helical region 8 (COL8).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.G1099W(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TGGGCCACCGGGGCCCCCGGG	0.622																																							uc004azb.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)	6						c.(3295-3297)GGG>TGG		alpha 1 type XV collagen precursor							37.0	42.0	41.0					9																	101818644		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101818644G>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.3295G>T	9.37:g.101818644G>T	ENSP00000364140:p.Gly1099Trp						p.G1099W	NM_001855	NP_001846	P39059	COFA1_HUMAN			35	3501	+		Acute lymphoblastic leukemia(62;0.0562)	1099			Triple-helical region 8 (COL8).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.3295G>T	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575321	0.65878	.	.	ENSG00000204291	ENST00000375001	D	0.97959	-4.63	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.99236	0.9734	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99029	1.0820	10	0.87932	D	0	-14.307	17.5802	0.87965	0.0:0.0:1.0:0.0	.	1099	P39059	COFA1_HUMAN	W	1099	ENSP00000364140:G1099W	ENSP00000364140:G1099W	G	+	1	0	COL15A1	100858465	1.000000	0.71417	0.973000	0.42090	0.961000	0.63080	8.010000	0.88615	2.894000	0.99253	0.655000	0.94253	GGG		0.622	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		58	48	1	0	5.82218e-30	0.01441	7.81608e-30	58	48				
GRIN3A	116443	broad.mit.edu	37	9	104375693	104375693	+	Missense_Mutation	SNP	C	C	A	rs200636529		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:104375693C>A	ENST00000361820.3	-	6	3331	c.2731G>T	c.(2731-2733)Gtt>Ttt	p.V911F	GRIN3A_ENST00000479772.1_5'UTR	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	911					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.V911F(1)		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)	CCACAGGGAACCACCCTGTAC	0.458																																							uc004bbp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(2731-2733)GTT>TTT		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)						172.0	134.0	147.0					9																	104375693		2203	4300	6503	SO:0001583	missense	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.chr9:104375693C>A		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.2731G>T	9.37:g.104375693C>A	ENSP00000355155:p.Val911Phe					GRIN3A_uc004bbq.1_Missense_Mutation_p.V911F	p.V911F	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			6	3332	-		Acute lymphoblastic leukemia(62;0.0568)	911			Extracellular (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.2731G>T	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158312	0.78114	.	.	ENSG00000198785	ENST00000361820	T	0.53423	0.62	5.2	4.29	0.51040	Ionotropic glutamate receptor (1);	0.069431	0.56097	D	0.000026	T	0.67524	0.2902	M	0.70595	2.14	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.71533	-0.4564	10	0.56958	D	0.05	.	16.0585	0.80822	0.0:0.8654:0.1346:0.0	.	911	Q8TCU5	NMD3A_HUMAN	F	911	ENSP00000355155:V911F	ENSP00000355155:V911F	V	-	1	0	GRIN3A	103415514	1.000000	0.71417	0.998000	0.56505	0.911000	0.54048	7.442000	0.80503	1.304000	0.44892	-0.176000	0.13171	GTT		0.458	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			27	27	1	0	2.48779e-11	0.005443	2.91544e-11	27	27				
EPB41L4B	54566	broad.mit.edu	37	9	111947854	111947854	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:111947854T>C	ENST00000374566.3	-	23	2850	c.2333A>G	c.(2332-2334)cAc>cGc	p.H778R		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	778					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)	p.H778R(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACAGCGAGAGTGGGCACAGTG	0.592																																							uc004bdz.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2332-2334)CAC>CGC		erythrocyte membrane protein band 4.1 like 4B							46.0	50.0	49.0					9																	111947854		1979	4162	6141	SO:0001583	missense	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:111947854T>C	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.2333A>G	9.37:g.111947854T>C	ENSP00000363694:p.His778Arg						p.H778R	NM_019114	NP_061987	Q9H329	E41LB_HUMAN			23	2628	-			778					Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	c.2333A>G	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	T	12.22	1.872286	0.33069	.	.	ENSG00000095203	ENST00000262536;ENST00000374566	D	0.82893	-1.66	5.21	4.08	0.47627	.	0.000000	0.40064	N	0.001193	T	0.68696	0.3029	N	0.17082	0.46	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.63849	-0.6544	10	0.66056	D	0.02	.	7.4439	0.27201	0.0:0.0956:0.0:0.9044	.	778	Q9H329	E41LB_HUMAN	R	463;778	ENSP00000363694:H778R	ENSP00000262536:H463R	H	-	2	0	EPB41L4B	110987675	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.033000	0.41136	1.013000	0.39391	0.533000	0.62120	CAC		0.592	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		33	20	0	0	0	0.015359	0	33	20				
CNTRL	11064	broad.mit.edu	37	9	123920102	123920102	+	Silent	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:123920102A>C	ENST00000373855.1	+	29	4841	c.4581A>C	c.(4579-4581)gcA>gcC	p.A1527A	CNTRL_ENST00000373850.1_Silent_p.A975A|CNTRL_ENST00000373847.1_Silent_p.A975A|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Silent_p.A1527A|CNTRL_ENST00000373844.1_5'Flank			Q7Z7A1	CNTRL_HUMAN	centriolin	1527					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)		p.A1527A(2)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AAATTGTAGCAGCAAAAGACT	0.408																																							uc004bkx.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(4579-4581)GCA>GCC		centrosomal protein 110kDa							96.0	99.0	98.0					9																	123920102		2203	4300	6503	SO:0001819	synonymous_variant	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123920102A>C	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.4581A>C	9.37:g.123920102A>C						CEP110_uc004bla.1_Silent_p.A975A|CEP110_uc010mvo.1_Silent_p.A196A|CEP110_uc004blb.1_Silent_p.A196A|CEP110_uc010mvp.1_5'UTR	p.A1527A	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN			27	4612	+			1527			Potential.		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Silent	SNP	ENST00000373855.1	37	c.4581A>C	CCDS35118.1																																																																																				0.408	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		42	69	0	0	0	0.011902	0	42	69				
RABGAP1	23637	broad.mit.edu	37	9	125782613	125782613	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:125782613A>T	ENST00000373647.4	+	13	1803	c.1669A>T	c.(1669-1671)Aag>Tag	p.K557*		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	557					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)	p.K485*(2)|p.K557*(2)		breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TGTGAGACCGAAGCAGTTGTC	0.403																																							uc011lzh.1		NA																	4	Substitution - Nonsense(4)		lung(4)	ovary(3)|kidney(2)	5						c.(1669-1671)AAG>TAG		RAB GTPase activating protein 1							116.0	108.0	111.0					9																	125782613		2203	4300	6503	SO:0001587	stop_gained	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125782613A>T	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.1669A>T	9.37:g.125782613A>T	ENSP00000362751:p.Lys557*					RABGAP1_uc004bnl.3_RNA	p.K557*	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN			13	1803	+			557					B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Nonsense_Mutation	SNP	ENST00000373647.4	37	c.1669A>T	CCDS6848.2	.	.	.	.	.	.	.	.	.	.	A	39	7.582149	0.98371	.	.	ENSG00000011454	ENST00000373647	.	.	.	5.66	5.66	0.87406	.	0.105435	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.4911	15.8951	0.79326	1.0:0.0:0.0:0.0	.	.	.	.	X	557	.	ENSP00000362751:K557X	K	+	1	0	RABGAP1	124822434	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.045000	0.76585	2.147000	0.66899	0.533000	0.62120	AAG		0.403	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		48	55	0	0	0	0.01441	0	48	55				
SURF4	6836	broad.mit.edu	37	9	136230446	136230446	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:136230446C>A	ENST00000371989.3	-	6	862	c.733G>T	c.(733-735)Gtg>Ttg	p.V245L	SURF4_ENST00000545297.1_3'UTR|SURF4_ENST00000485435.2_Intron|SURF4_ENST00000467910.1_5'UTR	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	245					Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.V245L(2)		kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		CCCCCAATCACCGACATGGTC	0.532																																							uc004cdj.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(733-735)GTG>TTG		surfeit 4							109.0	99.0	103.0					9																	136230446		2203	4300	6503	SO:0001583	missense	6836					endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	g.chr9:136230446C>A		CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248			11476	protein-coding gene	gene with protein product	"""surfeit locus protein 4"", ""surface 4 integral membrane protein"""	185660				8499913, 7540914	Standard	NM_033161		Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.733G>T	9.37:g.136230446C>A	ENSP00000361057:p.Val245Leu					SURF4_uc011mda.1_Missense_Mutation_p.V236L|SURF4_uc010nal.2_3'UTR|SURF4_uc011mdb.1_Missense_Mutation_p.V202L|SURF4_uc011mdc.1_Missense_Mutation_p.V202L|SURF4_uc011mdd.1_3'UTR	p.V245L	NM_033161	NP_149351	O15260	SURF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)	6	863	-			245			Helical; (Potential).		B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	Missense_Mutation	SNP	ENST00000371989.3	37	c.733G>T	CCDS6968.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014969	0.93404	.	.	ENSG00000148248	ENST00000371989;ENST00000541390	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.72153	0.3425	M	0.82132	2.575	0.80722	D	1	P;P	0.43519	0.809;0.624	P;P	0.46320	0.512;0.512	T	0.77461	-0.2579	9	0.72032	D	0.01	-11.7266	17.9175	0.88955	0.0:1.0:0.0:0.0	.	236;245	B7Z7A8;O15260	.;SURF4_HUMAN	L	245;236	.	ENSP00000361057:V245L	V	-	1	0	SURF4	135220267	1.000000	0.71417	0.986000	0.45419	0.985000	0.73830	7.388000	0.79795	2.467000	0.83353	0.467000	0.42956	GTG		0.532	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054886.1	NM_033161		14	54	1	0	2.31682e-05	0.003163	2.47128e-05	14	54				
GLRA2	2742	broad.mit.edu	37	X	14627186	14627186	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:14627186C>T	ENST00000218075.4	+	7	1319	c.789C>T	c.(787-789)atC>atT	p.I263I	GLRA2_ENST00000443437.2_Silent_p.I174I|GLRA2_ENST00000355020.4_Silent_p.I263I	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	263					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.I263I(4)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	AGATGTACATCCCAAGCCTGC	0.433																																							uc010nep.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(1)|lung(1)	2						c.(787-789)ATC>ATT		glycine receptor, alpha 2 isoform A	Ethanol(DB00898)|Glycine(DB00145)						116.0	111.0	113.0					X																	14627186		2203	4300	6503	SO:0001819	synonymous_variant	2742				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:14627186C>T		CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"""Ligand-gated ion channels / Glycine receptors"""	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.789C>T	X.37:g.14627186C>T						GLRA2_uc010neq.2_Silent_p.I263I|GLRA2_uc004cwe.3_Silent_p.I263I|GLRA2_uc011mio.1_Silent_p.I174I|GLRA2_uc011mip.1_Silent_p.I241I	p.I263I	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN			8	1121	+	Hepatocellular(33;0.128)		263			Helical; (Probable).		A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Silent	SNP	ENST00000218075.4	37	c.789C>T	CCDS14160.1																																																																																				0.433	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1			21	95	0	0	0	0.010504	0	21	95				
SYAP1	94056	broad.mit.edu	37	X	16773137	16773137	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:16773137C>T	ENST00000380155.3	+	6	738	c.645C>T	c.(643-645)ctC>ctT	p.L215L		NM_032796.3	NP_116185.2	Q96A49	SYAP1_HUMAN	synapse associated protein 1	215						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.L215L(2)		endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					CAGCCCAGCTCACGGCCCTGG	0.512																																							uc004cxp.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(643-645)CTC>CTT		SYAP1 protein							88.0	87.0	87.0					X																	16773137		2203	4300	6503	SO:0001819	synonymous_variant	94056							g.chrX:16773137C>T	AF338728	CCDS14177.1	Xp22.31	2010-06-25	2010-06-25		ENSG00000169895	ENSG00000169895			16273	protein-coding gene	gene with protein product	"""SAP47 homolog (Drosophila)"""					11483580	Standard	NM_032796		Approved	FLJ14495, PRO3113	uc004cxp.3	Q96A49	OTTHUMG00000021192	ENST00000380155.3:c.645C>T	X.37:g.16773137C>T						SYAP1_uc004cxo.2_Silent_p.L215L|SYAP1_uc011miv.1_Silent_p.L181L	p.L215L	NM_032796	NP_116185	Q96A49	SYAP1_HUMAN			6	738	+	Hepatocellular(33;0.0997)		215					Q68CP1|Q96C60|Q96JQ6|Q96T20	Silent	SNP	ENST00000380155.3	37	c.645C>T	CCDS14177.1																																																																																				0.512	SYAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055904.1	NM_032796		45	41	0	0	0	0.01441	0	45	41				
SAT1	6303	broad.mit.edu	37	X	23801932	23801932	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:23801932G>A	ENST00000379270.4	+	3	313	c.134G>A	c.(133-135)gGt>gAt	p.G45D	SAT1_ENST00000489394.1_3'UTR|SAT1_ENST00000379251.3_Missense_Mutation_p.G75D|RP13-314C10.5_ENST00000366134.2_RNA|Y_RNA_ENST00000365402.1_RNA|SAT1_ENST00000379253.3_Missense_Mutation_p.G45D|SAT1_ENST00000379254.1_Intron	NM_002970.2	NP_002961.1	Q9H2B4	S26A1_HUMAN	spermidine/spermine N1-acetyltransferase 1	0					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.G75D(2)|p.G45D(2)		breast(1)|endometrium(3)|kidney(3)|lung(3)	10						CTAGAAGATGGTTTTGGAGAG	0.587																																							uc004dau.2		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(133-135)GGT>GAT		diamine N-acetyltransferase 1	Spermine(DB00127)						109.0	95.0	100.0					X																	23801932		2203	4300	6503	SO:0001583	missense	6303				angiogenesis|polyamine biosynthetic process	cytosol	diamine N-acetyltransferase activity|protein binding	g.chrX:23801932G>A	M55580	CCDS14207.1	Xp22.1	2011-11-16	2006-08-24	2006-08-24	ENSG00000130066	ENSG00000130066	2.3.1.57		10540	protein-coding gene	gene with protein product	"""diamine N-acetyltransferase 1"""	313020	"""spermidine/spermine N1-acetyltransferase"""	SAT		1985966, 1417826	Standard	NM_002970		Approved	SSAT	uc004dau.3	P21673	OTTHUMG00000021256	ENST00000379270.4:c.134G>A	X.37:g.23801932G>A	ENSP00000368572:p.Gly45Asp					SAT1_uc010nfv.2_Missense_Mutation_p.G45D|SAT1_uc004dav.2_RNA	p.G45D	NM_002970	NP_002961	P21673	SAT1_HUMAN			3	328	+			45			N-acetyltransferase.		A8K9N2|Q7Z5R3|Q96BK0	Missense_Mutation	SNP	ENST00000379270.4	37	c.134G>A	CCDS14207.1	.	.	.	.	.	.	.	.	.	.	G	34	5.406034	0.96051	.	.	ENSG00000130066	ENST00000379270;ENST00000379253;ENST00000379251;ENST00000342463	T;T;T	0.42900	0.96;0.96;0.96	5.78	5.78	0.91487	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.045370	0.85682	D	0.000000	T	0.74099	0.3672	M	0.92459	3.31	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.81914	0.995;0.986	T	0.80209	-0.1477	10	0.66056	D	0.02	-10.8859	19.1624	0.93539	0.0:0.0:1.0:0.0	.	45;45	A6NM56;P21673	.;SAT1_HUMAN	D	45;45;75;69	ENSP00000368572:G45D;ENSP00000368555:G45D;ENSP00000368553:G75D	ENSP00000343343:G69D	G	+	2	0	SAT1	23711853	1.000000	0.71417	0.975000	0.42487	0.985000	0.73830	9.388000	0.97237	2.562000	0.86427	0.600000	0.82982	GGT		0.587	SAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056056.1	NM_002970		34	27	0	0	0	0.012213	0	34	27				
MAGEB3	4114	broad.mit.edu	37	X	30254960	30254961	+	Missense_Mutation	DNP	TA	TA	GT			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	TA	TA	-	-	TA	TA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:30254960_30254961TA>GT	ENST00000361644.2	+	5	1656_1657	c.919_920TA>GT	c.(919-921)TAt>GTt	p.Y307V		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	307	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.Y307V(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CCAGTTCTGGTATGAAGAGGCT	0.515																																							uc004dca.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(919-921)TAT>GTT		melanoma antigen family B, 3																																				SO:0001583	missense	4114							g.chrX:30254960_30254961TA>GT	AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 5"""	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	Exception_encountered	X.37:g.30254960_30254961delinsGT	ENSP00000355198:p.Tyr307Val						p.Y307V	NM_002365	NP_002356	O15480	MAGB3_HUMAN			5	1656_1657	+			307			MAGE.		A0AVE4|B3KQ52|O75861	Missense_Mutation	DNP	ENST00000361644.2	37	c.919_920TA>GT	CCDS14220.1																																																																																				0.515	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056158.2	NM_002365		18	23	0	0	0	0.004672	0	18	23				
FAM47C	442444	broad.mit.edu	37	X	37028810	37028810	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:37028810C>A	ENST00000358047.3	+	1	2379	c.2327C>A	c.(2326-2328)cCa>cAa	p.P776Q		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	776								p.P776Q(4)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CATCTCCACCCAGAGCTTCCC	0.632																																							uc004ddl.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)	3						c.(2326-2328)CCA>CAA		hypothetical protein LOC442444							38.0	39.0	38.0					X																	37028810		2202	4298	6500	SO:0001583	missense	442444							g.chrX:37028810C>A	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2327C>A	X.37:g.37028810C>A	ENSP00000367913:p.Pro776Gln						p.P776Q	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	2341	+			776					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.2327C>A	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	0.162	-1.080661	0.01888	.	.	ENSG00000198173	ENST00000358047	T	0.22945	1.93	0.118	-0.237	0.13061	.	.	.	.	.	T	0.17238	0.0414	M	0.69358	2.11	0.09310	N	1	P	0.43542	0.81	B	0.31245	0.126	T	0.15549	-1.0433	9	0.31617	T	0.26	.	2.131	0.03750	0.0:0.3353:0.3469:0.3178	.	776	Q5HY64	FA47C_HUMAN	Q	776	ENSP00000367913:P776Q	ENSP00000367913:P776Q	P	+	2	0	FAM47C	36938731	0.013000	0.17824	0.003000	0.11579	0.003000	0.03518	-1.007000	0.03667	-1.193000	0.02688	-1.190000	0.01697	CCA		0.632	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		12	21	1	0	3.27435e-08	0.020292	3.67252e-08	12	21				
USP9X	8239	broad.mit.edu	37	X	41000347	41000347	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:41000347A>G	ENST00000324545.8	+	8	1532	c.899A>G	c.(898-900)aAt>aGt	p.N300S	USP9X_ENST00000378308.2_Missense_Mutation_p.N300S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	300					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.N300S(2)|p.N293S(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GAAGCAAAGAATGAAGCCAAA	0.299																																					Ovarian(172;1807 2695 35459 49286)	Ovarian(172;1807 2695 35459 49286)	uc004dfb.2		NA																	4	Substitution - Missense(4)		lung(4)	lung(3)|breast(2)|ovary(1)	6						c.(898-900)AAT>AGT		ubiquitin specific protease 9, X-linked isoform							23.0	22.0	23.0					X																	41000347		2139	4243	6382	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41000347A>G	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.899A>G	X.37:g.41000347A>G	ENSP00000316357:p.Asn300Ser					USP9X_uc004dfc.2_Missense_Mutation_p.N300S	p.N300S	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			8	1532	+			300					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.899A>G	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	A	10.21	1.287188	0.23478	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.66995	-0.24;-0.24	5.67	5.67	0.87782	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.66597	0.2805	L	0.55103	1.725	0.58432	D	0.999997	P;P	0.44521	0.837;0.749	P;B	0.47430	0.547;0.345	T	0.63075	-0.6718	10	0.11485	T	0.65	.	14.9056	0.70715	1.0:0.0:0.0:0.0	.	300;300	Q93008-1;Q93008	.;USP9X_HUMAN	S	300	ENSP00000367558:N300S;ENSP00000316357:N300S	ENSP00000316357:N300S	N	+	2	0	USP9X	40885291	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.962000	0.93254	1.902000	0.55061	0.486000	0.48141	AAT		0.299	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		91	9	0	0	0	0.01441	0	91	9				
GPR34	2857	broad.mit.edu	37	X	41554925	41554925	+	Silent	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:41554925C>G	ENST00000378142.4	+	3	323	c.39C>G	c.(37-39)gtC>gtG	p.V13V	CASK_ENST00000378166.4_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000361962.4_Intron|GPR34_ENST00000378138.5_Silent_p.V13V|CASK_ENST00000378154.1_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000318588.9_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	13					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.V13V(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						CAACTTCAGTCAGCAGCTGGC	0.423																																							uc004dfp.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(37-39)GTC>GTG		G protein-coupled receptor 34							112.0	90.0	98.0					X																	41554925		2203	4300	6503	SO:0001819	synonymous_variant	2857					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:41554925C>G	AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"""GPCR / Class A : Orphans"""	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.39C>G	X.37:g.41554925C>G						CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR34_uc004dfq.3_Silent_p.V13V|GPR34_uc010nhg.2_Silent_p.V13V|GPR34_uc004dfr.3_Silent_p.V13V	p.V13V	NM_001097579	NP_001091048	Q9UPC5	GPR34_HUMAN			3	323	+			13			Extracellular (Potential).		O95853	Silent	SNP	ENST00000378142.4	37	c.39C>G	CCDS14258.1																																																																																				0.423	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056264.1	NM_005300		8	419	0	0	0	0.008291	0	8	419				
NDP	4693	broad.mit.edu	37	X	43817789	43817789	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:43817789C>T	ENST00000378062.5	-	2	510	c.103G>A	c.(103-105)Gac>Aac	p.D35N	NDP_ENST00000470584.1_Intron|NDP-AS1_ENST00000435093.1_RNA	NM_000266.3	NP_000257.1	Q00604	NDP_HUMAN	Norrie disease (pseudoglioma)	35					canonical Wnt signaling pathway (GO:0060070)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|extracellular matrix-cell signaling (GO:0035426)|nervous system development (GO:0007399)|placenta development (GO:0001890)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|vacuole organization (GO:0007033)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	frizzled binding (GO:0005109)|growth factor activity (GO:0008083)|protein homodimerization activity (GO:0042803)			kidney(1)|lung(2)	3						CGTCGAGGGTCCGAGTCCATT	0.473																																							uc004dga.3		NA																	0					0						c.(103-105)GAC>AAC		norrin precursor							245.0	172.0	196.0					X																	43817789		2203	4300	6503	SO:0001583	missense	4693				canonical Wnt receptor signaling pathway|cell proliferation|cell-cell signaling|nervous system development|positive regulation of transcription, DNA-dependent|sensory perception of sound|vacuole organization|visual perception	extracellular matrix|extracellular space	cell surface binding|frizzled binding|growth factor activity|protein homodimerization activity	g.chrX:43817789C>T	X65882	CCDS14262.1	Xp11.4-p11.3	2013-02-26			ENSG00000124479	ENSG00000124479		"""Endogenous ligands"""	7678	protein-coding gene	gene with protein product		300658	"""exudative vitreoretinopathy 2 (X-linked)"""	EVR2		8252044	Standard	NM_000266		Approved	norrin	uc004dga.3	Q00604	OTTHUMG00000021391	ENST00000378062.5:c.103G>A	X.37:g.43817789C>T	ENSP00000367301:p.Asp35Asn						p.D35N	NM_000266	NP_000257	Q00604	NDP_HUMAN			2	682	-			35					B2R8K6|Q5JYH5	Missense_Mutation	SNP	ENST00000378062.5	37	c.103G>A	CCDS14262.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922769	0.92319	.	.	ENSG00000124479	ENST00000378062	D	0.99264	-5.65	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.98848	0.9611	L	0.27053	0.805	0.58432	D	0.999997	D	0.57571	0.98	D	0.72338	0.977	D	0.99946	1.1477	10	0.87932	D	0	-7.5357	18.3264	0.90255	0.0:1.0:0.0:0.0	.	35	Q00604	NDP_HUMAN	N	35	ENSP00000367301:D35N	ENSP00000367301:D35N	D	-	1	0	NDP	43702733	1.000000	0.71417	0.982000	0.44146	0.970000	0.65996	6.813000	0.75231	2.267000	0.75376	0.600000	0.82982	GAC		0.473	NDP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056309.1	NM_000266		11	591	0	0	0	0.008291	0	11	591				
GPKOW	27238	broad.mit.edu	37	X	48973405	48973405	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:48973405C>T	ENST00000156109.5	-	6	970	c.892G>A	c.(892-894)Gac>Aac	p.D298N		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	298						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.D298N(2)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						GTGTTCTTGTCAAACTCCTGC	0.567																																							uc004dmr.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(892-894)GAC>AAC		G patch domain and KOW motifs							90.0	74.0	80.0					X																	48973405		2203	4300	6503	SO:0001583	missense	27238					nucleus	nucleic acid binding	g.chrX:48973405C>T	U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"""G patch domain containing"""	30677	protein-coding gene	gene with protein product	"""G patch domain containing 5"""					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.892G>A	X.37:g.48973405C>T	ENSP00000156109:p.Asp298Asn						p.D298N	NM_015698	NP_056513	Q92917	GPKOW_HUMAN			6	899	-			298					Q59EK5|Q9BQA8	Missense_Mutation	SNP	ENST00000156109.5	37	c.892G>A	CCDS35251.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.416024	0.62511	.	.	ENSG00000068394	ENST00000156109	.	.	.	5.05	4.18	0.49190	.	0.354917	0.32328	N	0.006260	T	0.70544	0.3236	M	0.67953	2.075	0.35953	D	0.83406	D	0.76494	0.999	D	0.64144	0.922	T	0.73487	-0.3967	9	0.26408	T	0.33	-4.8517	15.0794	0.72103	0.0:0.9192:0.0:0.0808	.	298	Q92917	GPKOW_HUMAN	N	298	.	ENSP00000156109:D298N	D	-	1	0	GPKOW	48860349	1.000000	0.71417	0.939000	0.37840	0.729000	0.41735	2.200000	0.42724	0.482000	0.27582	-0.937000	0.02696	GAC		0.567	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056535.2	NM_015698		110	583	0	0	0	0.01441	0	110	583				
GPKOW	27238	broad.mit.edu	37	X	48973451	48973451	+	Silent	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:48973451C>T	ENST00000156109.5	-	6	924	c.846G>A	c.(844-846)gtG>gtA	p.V282V		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	282						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.V282V(2)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CACTAACAGTCACCACCCGGC	0.547																																							uc004dmr.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(844-846)GTG>GTA		G patch domain and KOW motifs							105.0	82.0	90.0					X																	48973451		2203	4300	6503	SO:0001819	synonymous_variant	27238					nucleus	nucleic acid binding	g.chrX:48973451C>T	U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"""G patch domain containing"""	30677	protein-coding gene	gene with protein product	"""G patch domain containing 5"""					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.846G>A	X.37:g.48973451C>T							p.V282V	NM_015698	NP_056513	Q92917	GPKOW_HUMAN			6	853	-			282					Q59EK5|Q9BQA8	Silent	SNP	ENST00000156109.5	37	c.846G>A	CCDS35251.1																																																																																				0.547	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056535.2	NM_015698		172	706	0	0	0	0.01441	0	172	706				
SYP	6855	broad.mit.edu	37	X	49050789	49050789	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:49050789G>C	ENST00000263233.4	-	4	329	c.257C>G	c.(256-258)aCc>aGc	p.T86S	SYP_ENST00000538567.1_5'UTR|SYP_ENST00000479808.1_Missense_Mutation_p.T86S	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	86	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular response to organic substance (GO:0071310)|endocytosis (GO:0006897)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle membrane organization (GO:0048499)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	cholesterol binding (GO:0015485)|protein self-association (GO:0043621)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				CCCTCGGCAGGTGGGTGCATC	0.582																																							uc004dmz.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(256-258)ACC>AGC		synaptophysin							59.0	48.0	52.0					X																	49050789		2203	4300	6503	SO:0001583	missense	6855				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity	g.chrX:49050789G>C	X06389	CCDS14321.1	Xp11.23-p11.22	2014-02-19			ENSG00000102003	ENSG00000102003			11506	protein-coding gene	gene with protein product		313475				3120152, 19377476	Standard	NM_003179		Approved	MRX96	uc004dmz.1	P08247	OTTHUMG00000034557	ENST00000263233.4:c.257C>G	X.37:g.49050789G>C	ENSP00000263233:p.Thr86Ser					SYP_uc011mmz.1_5'UTR|SYP_uc004dna.1_Missense_Mutation_p.T80S	p.T86S	NM_003179	NP_003170	P08247	SYPH_HUMAN			4	273	-		all_lung(315;0.00016)	86			Vesicular (Potential).|MARVEL.		B2R7L6|B7Z359|Q6P2F7	Missense_Mutation	SNP	ENST00000263233.4	37	c.257C>G	CCDS14321.1	.	.	.	.	.	.	.	.	.	.	G	8.957	0.969591	0.18659	.	.	ENSG00000102003	ENST00000263233;ENST00000479808	T;T	0.17370	2.28;2.28	4.48	-5.06	0.02946	Marvel (1);MARVEL-like domain (1);	0.283883	0.38326	N	0.001732	T	0.14013	0.0339	L	0.43701	1.375	0.80722	D	1	B	0.17465	0.022	B	0.23852	0.049	T	0.09015	-1.0694	10	0.22109	T	0.4	-29.5381	17.4591	0.87615	0.0:0.0:0.2305:0.7695	.	86	P08247	SYPH_HUMAN	S	86	ENSP00000263233:T86S;ENSP00000418169:T86S	ENSP00000263233:T86S	T	-	2	0	SYP	48937733	1.000000	0.71417	0.291000	0.24904	0.977000	0.68977	1.705000	0.37867	-1.834000	0.01193	-1.117000	0.02048	ACC		0.582	SYP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083625.2	NM_003179		12	620	0	0	0	0.016723	0	12	620				
HUWE1	10075	broad.mit.edu	37	X	53641577	53641577	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:53641577T>A	ENST00000342160.3	-	22	2636	c.2179A>T	c.(2179-2181)Agt>Tgt	p.S727C	HUWE1_ENST00000218328.8_Missense_Mutation_p.S727C|HUWE1_ENST00000262854.6_Missense_Mutation_p.S727C			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	727					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.S727C(4)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCATCCTCACTAGAGGCTTCT	0.488																																							uc004dsp.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(2179-2181)AGT>TGT		HECT, UBA and WWE domain containing 1							196.0	167.0	177.0					X																	53641577		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53641577T>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.2179A>T	X.37:g.53641577T>A	ENSP00000340648:p.Ser727Cys						p.S727C	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			23	2581	-			727					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.2179A>T	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.603478	0.87157	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.46451	0.87;0.87;0.87	5.46	5.46	0.80206	E3 ubiquitin ligase, domain of unknown function DUF913 (1);	0.136542	0.49916	D	0.000135	T	0.60495	0.2273	M	0.63843	1.955	0.58432	D	0.999998	D	0.69078	0.997	D	0.70716	0.97	T	0.63703	-0.6577	10	0.66056	D	0.02	.	13.4598	0.61221	0.0:0.0:0.0:1.0	.	727	Q7Z6Z7	HUWE1_HUMAN	C	727	ENSP00000340648:S727C;ENSP00000262854:S727C;ENSP00000218328:S727C	ENSP00000218328:S727C	S	-	1	0	HUWE1	53658302	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.267000	0.78462	1.820000	0.53075	0.486000	0.48141	AGT		0.488	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		37	37	0	0	0	0.00623	0	37	37				
KIAA2022	340533	broad.mit.edu	37	X	73964291	73964291	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:73964291G>C	ENST00000055682.6	-	3	712	c.101C>G	c.(100-102)gCa>gGa	p.A34G		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	34					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.A34G(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGACTTCATTGCCACATCCTG	0.453																																							uc004eby.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(100-102)GCA>GGA		hypothetical protein LOC340533							31.0	31.0	31.0					X																	73964291		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73964291G>C		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.101C>G	X.37:g.73964291G>C	ENSP00000055682:p.Ala34Gly						p.A34G	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	718	-			34					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.101C>G	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247075	0.39697	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.32272	1.46;1.46	5.11	4.17	0.49024	.	0.519183	0.20620	N	0.088794	T	0.17789	0.0427	N	0.22421	0.69	0.20196	N	0.99992	B	0.25904	0.137	B	0.25140	0.058	T	0.06716	-1.0811	10	0.40728	T	0.16	-2.4647	4.9477	0.13999	0.1132:0.0:0.479:0.4078	.	34	Q5QGS0	K2022_HUMAN	G	34	ENSP00000362567:A34G;ENSP00000055682:A34G	ENSP00000055682:A34G	A	-	2	0	KIAA2022	73881016	1.000000	0.71417	0.979000	0.43373	0.971000	0.66376	3.973000	0.56845	2.358000	0.79984	0.600000	0.82982	GCA		0.453	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		6	12	0	0	0	0.001168	0	6	12				
LPAR4	2846	broad.mit.edu	37	X	78010954	78010954	+	Silent	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:78010954C>A	ENST00000435339.3	+	2	974	c.588C>A	c.(586-588)gtC>gtA	p.V196V		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	196					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.V196V(3)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CCAAACGTGTCTGGAAGACTT	0.413																																							uc010nme.2		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(3)	3						c.(586-588)GTC>GTA		lysophosphatidic acid receptor 4							86.0	77.0	80.0					X																	78010954		2202	4299	6501	SO:0001819	synonymous_variant	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78010954C>A	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.588C>A	X.37:g.78010954C>A							p.V196V	NM_005296	NP_005287	Q99677	LPAR4_HUMAN			2	993	+			196			Extracellular (Potential).		B2RAC7|O15132|Q502U9|Q6NSP5	Silent	SNP	ENST00000435339.3	37	c.588C>A	CCDS14441.1																																																																																				0.413	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		9	27	1	0	0.000442599	0.006214	0.000462664	9	27				
P2RY10	27334	broad.mit.edu	37	X	78216847	78216847	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:78216847G>C	ENST00000171757.2	+	4	1110	c.830G>C	c.(829-831)tGt>tCt	p.C277S	P2RY10_ENST00000544091.1_Missense_Mutation_p.C277S	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.C277S(2)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						ATTAGCAGTTGTCCCGTTGTC	0.413																																							uc004ede.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|breast(1)	5						c.(829-831)TGT>TCT		G-protein coupled purinergic receptor P2Y10							230.0	211.0	217.0					X																	78216847		2203	4300	6503	SO:0001583	missense	27334					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216847G>C	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.830G>C	X.37:g.78216847G>C	ENSP00000171757:p.Cys277Ser					P2RY10_uc004edf.2_Missense_Mutation_p.C277S	p.C277S	NM_014499	NP_055314	O00398	P2Y10_HUMAN			4	1199	+			277			Extracellular (Potential).		D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	ENST00000171757.2	37	c.830G>C	CCDS14442.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.042533	0.55003	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.37752	1.18;1.18	4.99	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.62307	0.2417	M	0.79693	2.465	0.58432	D	0.999999	D	0.76494	0.999	D	0.79784	0.993	T	0.66771	-0.5839	10	0.56958	D	0.05	.	15.8594	0.79009	0.0:0.0:1.0:0.0	.	277	O00398	P2Y10_HUMAN	S	277	ENSP00000443138:C277S;ENSP00000171757:C277S	ENSP00000171757:C277S	C	+	2	0	P2RY10	78103503	1.000000	0.71417	0.937000	0.37676	0.455000	0.32408	9.353000	0.97080	2.311000	0.77944	0.597000	0.82753	TGT		0.413	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			72	62	0	0	0	0.01441	0	72	62				
POU3F4	5456	broad.mit.edu	37	X	82763575	82763575	+	Silent	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:82763575G>T	ENST00000373200.2	+	1	307	c.243G>T	c.(241-243)gtG>gtT	p.V81V	RP3-326L13.2_ENST00000607095.1_RNA|RP3-326L13.3_ENST00000607789.1_lincRNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	81					cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V81V(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						AGCAGGACGTGAAGCCCGGGC	0.667																																							uc004eeg.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(241-243)GTG>GTT		POU domain, class 3, transcription factor 4							24.0	20.0	21.0					X																	82763575		2194	4290	6484	SO:0001819	synonymous_variant	5456				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	g.chrX:82763575G>T	X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"""Homeoboxes / POU class"""	9217	protein-coding gene	gene with protein product	"""brain-4"""	300039	"""POU domain class 3, transcription factor 4"""	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.243G>T	X.37:g.82763575G>T							p.V81V	NM_000307	NP_000298	P49335	PO3F4_HUMAN			1	307	+			81					B2RC71|Q5H9G9|Q99410	Silent	SNP	ENST00000373200.2	37	c.243G>T	CCDS14450.1																																																																																				0.667	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057368.2	NM_000307		7	3	1	0	0.00198382	0.001984	0.00205458	7	3				
DACH2	117154	broad.mit.edu	37	X	85403695	85403695	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:85403695G>T	ENST00000373125.4	+	1	71	c.71G>T	c.(70-72)cGg>cTg	p.R24L	DACH2_ENST00000373131.1_Missense_Mutation_p.R24L	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	24					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R24L(4)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GGCTTATTCCGGGCCGAACCC	0.582																																							uc004eew.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(4)|pancreas(1)	5						c.(70-72)CGG>CTG		dachshund 2 isoform a							21.0	20.0	20.0					X																	85403695		2203	4297	6500	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85403695G>T	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.71G>T	X.37:g.85403695G>T	ENSP00000362217:p.Arg24Leu					DACH2_uc004eex.2_Missense_Mutation_p.R24L|DACH2_uc010nmq.2_5'UTR	p.R24L	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN			1	241	+			24					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.71G>T	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	G	8.002	0.755640	0.15846	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125	D;D	0.84442	-1.85;-1.84	4.64	4.64	0.57946	.	0.000000	0.46442	D	0.000291	T	0.73202	0.3557	L	0.32530	0.975	0.80722	D	1	P;P	0.41748	0.761;0.649	B;B	0.38378	0.272;0.14	T	0.68918	-0.5282	10	0.15499	T	0.54	.	7.3062	0.26449	0.0923:0.1681:0.7395:0.0	.	24;24	Q96NX9-2;Q96NX9	.;DACH2_HUMAN	L	24	ENSP00000362223:R24L;ENSP00000362217:R24L	ENSP00000345134:R24L	R	+	2	0	DACH2	85290351	1.000000	0.71417	0.995000	0.50966	0.017000	0.09413	1.519000	0.35888	2.137000	0.66172	0.538000	0.68166	CGG		0.582	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		8	7	1	0	0.000157383	0.00308	0.000165845	8	7				
BHLHB9	80823	broad.mit.edu	37	X	102005310	102005310	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:102005310C>G	ENST00000372735.1	+	4	1972	c.1387C>G	c.(1387-1389)Ctt>Gtt	p.L463V	BHLHB9_ENST00000457056.1_Missense_Mutation_p.L463V|BHLHB9_ENST00000448867.1_Missense_Mutation_p.L463V|BHLHB9_ENST00000361229.4_Missense_Mutation_p.L463V|BHLHB9_ENST00000447531.1_Missense_Mutation_p.L463V			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	463					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AACCAGAAATCTTGTTTTGAA	0.363																																							uc010nog.2		NA																	0				ovary(2)	2						c.(1387-1389)CTT>GTT		basic helix-loop-helix domain containing, class							81.0	84.0	83.0					X																	102005310		2203	4299	6502	SO:0001583	missense	80823					cytoplasm|nucleus	binding	g.chrX:102005310C>G	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.1387C>G	X.37:g.102005310C>G	ENSP00000361820:p.Leu463Val					BHLHB9_uc011mrq.1_Missense_Mutation_p.L463V|BHLHB9_uc011mrr.1_Missense_Mutation_p.L463V|BHLHB9_uc011mrs.1_Missense_Mutation_p.L463V|BHLHB9_uc011mrt.1_Missense_Mutation_p.L463V|BHLHB9_uc004ejo.2_Missense_Mutation_p.L463V|BHLHB9_uc011mru.1_Missense_Mutation_p.L463V|BHLHB9_uc011mrv.1_Missense_Mutation_p.L463V	p.L463V	NM_001142526	NP_001135998	Q6PI77	BHLH9_HUMAN			4	1958	+			463					Q9C0G2	Missense_Mutation	SNP	ENST00000372735.1	37	c.1387C>G	CCDS14502.1	.	.	.	.	.	.	.	.	.	.	C	4.258	0.046915	0.08243	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	4.34	3.45	0.39498	Armadillo-like helical (1);Armadillo-type fold (1);	0.187505	0.26355	N	0.024855	T	0.30541	0.0768	N	0.22421	0.69	0.25105	N	0.990759	D	0.57257	0.979	P	0.57468	0.821	T	0.04811	-1.0925	9	.	.	.	-8.7557	8.292	0.31963	0.2353:0.7647:0.0:0.0	.	463	Q6PI77	BHLH9_HUMAN	V	463	ENSP00000403226:L463V;ENSP00000354675:L463V;ENSP00000405893:L463V;ENSP00000391722:L463V;ENSP00000361820:L463V	.	L	+	1	0	BHLHB9	101891966	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	2.791000	0.47829	1.117000	0.41842	0.422000	0.28245	CTT		0.363	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		3	128	0	0	0	0.004672	0	3	128				
DOCK11	139818	broad.mit.edu	37	X	117788700	117788700	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:117788700T>A	ENST00000276202.7	+	43	4894	c.4831T>A	c.(4831-4833)Tat>Aat	p.Y1611N	DOCK11_ENST00000276204.6_Missense_Mutation_p.Y1611N	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1611	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Y1611N(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGCCAAGTCCTATGCAAGCAC	0.433																																							uc004eqp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(4831-4833)TAT>AAT		dedicator of cytokinesis 11							93.0	86.0	88.0					X																	117788700		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117788700T>A	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.4831T>A	X.37:g.117788700T>A	ENSP00000276202:p.Tyr1611Asn					DOCK11_uc004eqq.2_Missense_Mutation_p.Y1390N	p.Y1611N	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			43	4894	+			1611			DHR-2.		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.4831T>A	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.214511	0.79352	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.34472	1.36;1.37	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.61862	0.2381	M	0.81179	2.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.67333	-0.5697	10	0.66056	D	0.02	-8.9736	13.8896	0.63731	0.0:0.0:0.0:1.0	.	1611;1611	A6NIW2;Q5JSL3	.;DOC11_HUMAN	N	1611	ENSP00000276204:Y1611N;ENSP00000276202:Y1611N	ENSP00000276202:Y1611N	Y	+	1	0	DOCK11	117672728	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.691000	0.84191	1.655000	0.50712	0.486000	0.48141	TAT		0.433	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		219	38	0	0	0	0.01441	0	219	38				
ATP1B4	23439	broad.mit.edu	37	X	119504691	119504691	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:119504691G>T	ENST00000218008.3	+	3	507	c.450G>T	c.(448-450)aaG>aaT	p.K150N	ATP1B4_ENST00000539306.1_Intron|ATP1B4_ENST00000361319.3_Missense_Mutation_p.K146N	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	150					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)	p.K146N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						AGCGGGTAAAGCCTCCTGGTG	0.493																																							uc004esr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(448-450)AAG>AAT		ATPase, (Na+)/K+ transporting, beta 4							258.0	222.0	234.0					X																	119504691		2203	4300	6503	SO:0001583	missense	23439				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	g.chrX:119504691G>T	AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"""ATPases / P-type"""	808	protein-coding gene	gene with protein product	"""Na,K-ATPase beta m-subunit"""		"""ATPase, (Na+)/K+ transporting, beta 4 polypeptide"""			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.450G>T	X.37:g.119504691G>T	ENSP00000218008:p.Lys150Asn					ATP1B4_uc004esq.2_Missense_Mutation_p.K146N|ATP1B4_uc011mtx.1_Missense_Mutation_p.K115N|ATP1B4_uc011mty.1_Intron	p.K150N	NM_001142447	NP_001135919	Q9UN42	AT1B4_HUMAN			3	534	+			150			Perinuclear space (Potential).		Q17RR0|Q9UN41	Missense_Mutation	SNP	ENST00000218008.3	37	c.450G>T	CCDS48158.1	.	.	.	.	.	.	.	.	.	.	G	2.420	-0.333262	0.05278	.	.	ENSG00000101892	ENST00000218008;ENST00000361319	T;T	0.30981	1.51;1.51	5.39	-1.67	0.08238	.	0.233267	0.50627	D	0.000117	T	0.15565	0.0375	N	0.25332	0.735	0.80722	D	1	B;B;B	0.17268	0.0;0.021;0.017	B;B;B	0.17433	0.005;0.018;0.011	T	0.05289	-1.0894	10	0.33940	T	0.23	-9.9451	4.4944	0.11830	0.3671:0.0:0.2192:0.4137	.	115;150;146	B7ZKV9;Q9UN42;Q9UN42-2	.;AT1B4_HUMAN;.	N	150;146	ENSP00000218008:K150N;ENSP00000355346:K146N	ENSP00000218008:K150N	K	+	3	2	ATP1B4	119388719	1.000000	0.71417	0.981000	0.43875	0.237000	0.25408	0.569000	0.23638	-0.373000	0.07979	-1.930000	0.00511	AAG		0.493	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	NM_001142447		394	121	1	0	1.38562e-190	0.01441	2.0006e-190	394	121				
THOC2	57187	broad.mit.edu	37	X	122769970	122769970	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:122769970G>C	ENST00000245838.8	-	19	2009	c.1978C>G	c.(1978-1980)Ctt>Gtt	p.L660V	THOC2_ENST00000355725.4_Missense_Mutation_p.L660V|THOC2_ENST00000491737.1_Missense_Mutation_p.L545V	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	660					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.L660V(1)|p.L581V(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TACTGAAGAAGACCAGCAAGA	0.333																																							uc004etu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1978-1980)CTT>GTT		THO complex 2							109.0	93.0	98.0					X																	122769970		1831	4078	5909	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122769970G>C	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.1978C>G	X.37:g.122769970G>C	ENSP00000245838:p.Leu660Val					THOC2_uc011muh.1_Missense_Mutation_p.L585V	p.L660V	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			19	2010	-			660					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.1978C>G	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346452	0.82022	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.11	5.11	0.69529	.	0.000000	0.52532	D	0.000076	T	0.65903	0.2736	L	0.49640	1.575	0.80722	D	1	D;P	0.53885	0.963;0.897	P;P	0.58928	0.848;0.749	T	0.60454	-0.7260	9	0.12430	T	0.62	-8.7685	17.7	0.88292	0.0:0.0:1.0:0.0	.	585;660	B4DKZ6;Q8NI27	.;THOC2_HUMAN	V	660;660;545;585	.	ENSP00000245838:L660V	L	-	1	0	THOC2	122597651	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.841000	0.86834	2.110000	0.64415	0.415000	0.27848	CTT		0.333	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			7	109	0	0	0	0.001984	0	7	109				
TENM1	10178	broad.mit.edu	37	X	123631060	123631060	+	Silent	SNP	G	G	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:123631060G>C	ENST00000371130.3	-	20	3564	c.3501C>G	c.(3499-3501)gtC>gtG	p.V1167V	TENM1_ENST00000461429.1_5'Flank|TENM1_ENST00000422452.2_Silent_p.V1167V	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1167					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.V1169V(2)									TGGTTGATATGACTGGGGGCT	0.423																																							uc004euj.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(3499-3501)GTC>GTG		odz, odd Oz/ten-m homolog 1 isoform 3							108.0	91.0	97.0					X																	123631060		2203	4300	6503	SO:0001819	synonymous_variant	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123631060G>C	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.3501C>G	X.37:g.123631060G>C						ODZ1_uc011muj.1_Silent_p.V1166V|ODZ1_uc010nqy.2_Silent_p.V1167V	p.V1167V	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			20	3565	-			1167			Extracellular (Potential).		B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.3501C>G	CCDS14609.1																																																																																				0.423	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		39	14	0	0	0	0.005524	0	39	14				
DCAF12L1	139170	broad.mit.edu	37	X	125686243	125686243	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:125686243A>G	ENST00000371126.1	-	1	591	c.349T>C	c.(349-351)Tgt>Cgt	p.C117R		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	117								p.C117R(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGCGTGTTACACTTGGTGCCG	0.642																																							uc004eul.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(349-351)TGT>CGT		DDB1 and CUL4 associated factor 12-like 1							120.0	90.0	100.0					X																	125686243		2203	4300	6503	SO:0001583	missense	139170							g.chrX:125686243A>G	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.349T>C	X.37:g.125686243A>G	ENSP00000360167:p.Cys117Arg						p.C117R	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	600	-			117					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.349T>C	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	a	18.64	3.666557	0.67814	.	.	ENSG00000198889	ENST00000371126	T	0.67345	-0.26	3.61	3.61	0.41365	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.80099	0.4561	M	0.82323	2.585	0.58432	D	0.999996	D	0.76494	0.999	D	0.83275	0.996	T	0.79916	-0.1601	9	0.41790	T	0.15	.	9.7542	0.40494	1.0:0.0:0.0:0.0	.	117	Q5VU92	DC121_HUMAN	R	117	ENSP00000360167:C117R	ENSP00000360167:C117R	C	-	1	0	DCAF12L1	125513924	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.254000	0.72460	1.660000	0.50760	0.405000	0.27470	TGT		0.642	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		31	82	0	0	0	0.007291	0	31	82				
ARHGAP36	158763	broad.mit.edu	37	X	130218650	130218650	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:130218650C>T	ENST00000276211.5	+	6	1144	c.799C>T	c.(799-801)Cgt>Tgt	p.R267C	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R255C|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R131C	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	267	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.R267C(2)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GCAGCGAGTGCGTCAGGTAAA	0.498																																							uc004evz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(799-801)CGT>TGT		hypothetical protein LOC158763 precursor							169.0	142.0	151.0					X																	130218650		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130218650C>T		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.799C>T	X.37:g.130218650C>T	ENSP00000276211:p.Arg267Cys					ARHGAP36_uc004ewa.2_Missense_Mutation_p.R255C|ARHGAP36_uc004ewb.2_Missense_Mutation_p.R236C|ARHGAP36_uc004ewc.2_Missense_Mutation_p.R131C	p.R267C	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN			6	1144	+			267			Rho-GAP.		B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.799C>T	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378862	0.82682	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.20069	2.1;2.1;2.1;2.1	4.99	1.96	0.26148	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.877864	0.09852	N	0.747457	T	0.40694	0.1127	M	0.88377	2.95	0.20926	N	0.999826	D;D;D	0.67145	0.987;0.995;0.996	P;P;P	0.51101	0.528;0.648;0.659	T	0.29731	-1.0002	10	0.87932	D	0	.	9.6984	0.40171	0.5476:0.4524:0.0:0.0	.	236;255;267	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	C	267;255;236;131	ENSP00000276211:R267C;ENSP00000359960:R255C;ENSP00000408515:R236C;ENSP00000359959:R131C	ENSP00000276211:R267C	R	+	1	0	ARHGAP36	130046331	0.002000	0.14202	0.142000	0.22268	0.642000	0.38348	0.859000	0.27858	0.566000	0.29273	0.529000	0.55759	CGT		0.498	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		22	219	0	0	0	0.010504	0	22	219				
ARHGEF6	9459	broad.mit.edu	37	X	135829672	135829672	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:135829672G>A	ENST00000250617.6	-	3	1534	c.329C>T	c.(328-330)aCa>aTa	p.T110I	ARHGEF6_ENST00000370622.1_5'UTR|ARHGEF6_ENST00000535227.1_5'UTR|ARHGEF6_ENST00000370620.1_5'UTR	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	110	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T110I(2)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CTTACCTTCTGTTGCTTTGTT	0.403																																							uc004fab.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(328-330)ACA>ATA		Rac/Cdc42 guanine nucleotide exchange factor 6							81.0	72.0	75.0					X																	135829672		2203	4300	6503	SO:0001583	missense	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135829672G>A	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.329C>T	X.37:g.135829672G>A	ENSP00000250617:p.Thr110Ile					ARHGEF6_uc011mwd.1_5'UTR|ARHGEF6_uc011mwe.1_5'UTR	p.T110I	NM_004840	NP_004831	Q15052	ARHG6_HUMAN			3	791	-	Acute lymphoblastic leukemia(192;0.000127)		110			CH.		A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	c.329C>T	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681109	0.88542	.	.	ENSG00000129675	ENST00000250617	T	0.55413	0.52	5.57	5.57	0.84162	Calponin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.79167	0.4400	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84265	0.0485	10	0.87932	D	0	.	17.4108	0.87485	0.0:0.0:1.0:0.0	.	110	Q15052	ARHG6_HUMAN	I	110	ENSP00000250617:T110I	ENSP00000250617:T110I	T	-	2	0	ARHGEF6	135657338	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	9.154000	0.94694	2.325000	0.78763	0.529000	0.55759	ACA		0.403	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		18	84	0	0	0	0.008871	0	18	84				
SPANXN2	494119	broad.mit.edu	37	X	142795241	142795241	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:142795241C>T	ENST00000370498.1	-	2	1190	c.437G>A	c.(436-438)gGa>gAa	p.G146E		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	146								p.I24I(2)|p.G146E(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTGAAGATCCTTCAGATGA	0.527																																							uc004fbz.2		NA																	4	Substitution - Missense(2)|Substitution - coding silent(2)		lung(4)	ovary(1)	1						c.(436-438)GGA>GAA		SPANX-N2 protein							236.0	218.0	224.0					X																	142795241		2203	4300	6503	SO:0001583	missense	494119							g.chrX:142795241C>T		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.437G>A	X.37:g.142795241C>T	ENSP00000359529:p.Gly146Glu						p.G146E	NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN			2	1191	-	Acute lymphoblastic leukemia(192;6.56e-05)		146					Q0ZNM2	Missense_Mutation	SNP	ENST00000370498.1	37	c.437G>A	CCDS35419.1	.	.	.	.	.	.	.	.	.	.	N	1.958	-0.439568	0.04636	.	.	ENSG00000203924	ENST00000370498	T	0.10960	2.82	.	.	.	.	.	.	.	.	T	0.08492	0.0211	M	0.63843	1.955	0.09310	N	1	B	0.27853	0.191	B	0.17098	0.017	T	0.25572	-1.0128	7	0.66056	D	0.02	.	.	.	.	.	146	Q5MJ10	SPXN2_HUMAN	E	146	ENSP00000359529:G146E	ENSP00000359529:G146E	G	-	2	0	SPANXN2	142622907	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	-2.433000	0.01021	-1.976000	0.00996	-1.516000	0.00938	GGA		0.527	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		82	612	0	0	0	0.01441	0	82	612				
SLITRK2	84631	broad.mit.edu	37	X	144906014	144906014	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:144906014C>A	ENST00000370490.1	+	1	6326	c.2071C>A	c.(2071-2073)Cct>Act	p.P691T	SLITRK2_ENST00000434188.2_Missense_Mutation_p.P691T|TMEM257_ENST00000408967.2_5'Flank|SLITRK2_ENST00000447897.2_Missense_Mutation_p.P691T|SLITRK2_ENST00000413937.2_Missense_Mutation_p.P691T|SLITRK2_ENST00000428560.2_Missense_Mutation_p.P691T			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	691					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.P691T(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TATCCCCCCACCTGTGGGTCA	0.468																																							uc004fcd.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(2071-2073)CCT>ACT		SLIT and NTRK-like family, member 2 precursor							69.0	66.0	67.0					X																	144906014		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144906014C>A	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.2071C>A	X.37:g.144906014C>A	ENSP00000359521:p.Pro691Thr					SLITRK2_uc010nsp.2_Missense_Mutation_p.P691T|SLITRK2_uc010nso.2_Missense_Mutation_p.P691T|SLITRK2_uc011mwq.1_Missense_Mutation_p.P691T|SLITRK2_uc011mwr.1_Missense_Mutation_p.P691T|SLITRK2_uc011mws.1_Missense_Mutation_p.P691T|SLITRK2_uc004fcg.2_Missense_Mutation_p.P691T|SLITRK2_uc011mwt.1_Missense_Mutation_p.P691T|CXorf1_uc004fch.2_5'Flank	p.P691T	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	3061	+	Acute lymphoblastic leukemia(192;6.56e-05)		691			Cytoplasmic (Potential).		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.2071C>A	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.900787	0.52227	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.61158	0.4;0.13;0.13;0.13;0.13;0.13	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.55146	0.1902	L	0.55743	1.74	0.80722	D	1	P	0.45212	0.853	B	0.42112	0.376	T	0.53795	-0.8388	10	0.26408	T	0.33	-6.2364	15.7534	0.78005	0.0:1.0:0.0:0.0	.	691	Q9H156	SLIK2_HUMAN	T	691	ENSP00000334374:P691T;ENSP00000411681:P691T;ENSP00000359521:P691T;ENSP00000397015:P691T;ENSP00000407347:P691T;ENSP00000412010:P691T	ENSP00000334374:P691T	P	+	1	0	SLITRK2	144713706	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.070000	0.71220	2.316000	0.78162	0.513000	0.50165	CCT		0.468	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		104	40	1	0	8.27256e-43	0.01441	1.14588e-42	104	40				
CNGA2	1260	broad.mit.edu	37	X	150912021	150912021	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:150912021A>G	ENST00000329903.4	+	6	1079	c.1046A>G	c.(1045-1047)gAg>gGg	p.E349G		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	349					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.E349G(2)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					AAGGATGAGGAGTACCTATTT	0.502																																							uc004fey.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(3)	3						c.(1045-1047)GAG>GGG		cyclic nucleotide gated channel alpha 2							152.0	151.0	151.0					X																	150912021		2203	4300	6503	SO:0001583	missense	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150912021A>G	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1046A>G	X.37:g.150912021A>G	ENSP00000328478:p.Glu349Gly						p.E349G	NM_005140	NP_005131	Q16280	CNGA2_HUMAN			7	1270	+	Acute lymphoblastic leukemia(192;6.56e-05)		349			Cytoplasmic (Potential).		A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	c.1046A>G	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	A	17.92	3.506348	0.64410	.	.	ENSG00000183862	ENST00000329903	D	0.96491	-4.03	4.96	4.96	0.65561	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98194	0.9403	M	0.90814	3.15	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.98982	1.0805	10	0.87932	D	0	.	11.7614	0.51905	1.0:0.0:0.0:0.0	.	349	Q16280	CNGA2_HUMAN	G	349	ENSP00000328478:E349G	ENSP00000328478:E349G	E	+	2	0	CNGA2	150662677	1.000000	0.71417	0.979000	0.43373	0.962000	0.63368	8.910000	0.92685	1.749000	0.51849	0.430000	0.28490	GAG		0.502	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		26	229	0	0	0	0.01892	0	26	229				
GABRA3	2556	broad.mit.edu	37	X	151533027	151533027	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:151533027T>A	ENST00000370314.4	-	2	254	c.16A>T	c.(16-18)Aca>Tca	p.T6S	GABRA3_ENST00000535043.1_Missense_Mutation_p.T6S	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	6					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|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.T6S(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	CAGTGACTTGTTTGTGTGATT	0.433																																					NSCLC(142;2578 2613 10251 16743)	NSCLC(142;2578 2613 10251 16743)	uc010ntk.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(16-18)ACA>TCA		gamma-aminobutyric acid A receptor, alpha 3	Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						145.0	121.0	129.0					X																	151533027		2203	4300	6503	SO:0001583	missense	2556				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.chrX:151533027T>A		CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.16A>T	X.37:g.151533027T>A	ENSP00000359337:p.Thr6Ser						p.T6S	NM_000808	NP_000799	P34903	GBRA3_HUMAN			2	256	-	Acute lymphoblastic leukemia(192;6.56e-05)		6					Q8TAF9	Missense_Mutation	SNP	ENST00000370314.4	37	c.16A>T	CCDS14706.1	.	.	.	.	.	.	.	.	.	.	T	9.090	1.001473	0.19121	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	T;T;T	0.70164	-0.46;-0.46;-0.46	5.29	4.09	0.47781	.	1.071590	0.07156	N	0.849837	T	0.47488	0.1448	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.36138	-0.9760	10	0.30854	T	0.27	.	8.4284	0.32742	0.0:0.0:0.1945:0.8055	.	6	P34903	GBRA3_HUMAN	S	6	ENSP00000359337:T6S;ENSP00000359334:T6S;ENSP00000443527:T6S	ENSP00000359334:T6S	T	-	1	0	GABRA3	151283683	0.856000	0.29760	0.007000	0.13788	0.073000	0.16967	1.443000	0.35057	0.620000	0.30215	0.486000	0.48141	ACA		0.433	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808		34	107	0	0	0	0.019004	0	34	107				
PNCK	139728	broad.mit.edu	37	X	152938064	152938064	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:152938064C>A	ENST00000370150.1	-	3	335	c.157G>T	c.(157-159)Ggc>Tgc	p.G53C	PNCK_ENST00000340888.3_Missense_Mutation_p.G53C|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000447676.2_Missense_Mutation_p.G136C|PNCK_ENST00000370145.4_Missense_Mutation_p.G70C|PNCK_ENST00000393831.2_Missense_Mutation_p.G53C|PNCK_ENST00000370142.1_Missense_Mutation_p.G53C			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	53	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.G82C(1)|p.G53C(1)|p.G70C(1)		breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCTCCTTGCCCCGGAGGGCC	0.701																																							uc011myu.1		NA																	3	Substitution - Missense(3)		lung(3)	breast(1)	1						c.(406-408)GGC>TGC		pregnancy upregulated non-ubiquitously expressed							48.0	48.0	48.0					X																	152938064		2203	4300	6503	SO:0001583	missense	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152938064C>A	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.157G>T	X.37:g.152938064C>A	ENSP00000359169:p.Gly53Cys					PNCK_uc011myt.1_Missense_Mutation_p.G70C|PNCK_uc004fia.2_Missense_Mutation_p.G65C|PNCK_uc004fhz.3_5'UTR|PNCK_uc010nuh.2_Missense_Mutation_p.G136C|PNCK_uc011myv.1_Missense_Mutation_p.G80C|PNCK_uc011myw.1_Missense_Mutation_p.G80C	p.G136C	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN			3	592	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		53			Protein kinase.		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Missense_Mutation	SNP	ENST00000370150.1	37	c.406G>T		.	.	.	.	.	.	.	.	.	.	c	20.3	3.959684	0.74016	.	.	ENSG00000130822	ENST00000340888;ENST00000370150;ENST00000393831;ENST00000370142;ENST00000370145;ENST00000447676;ENST00000439087;ENST00000422811;ENST00000418241;ENST00000434652	T;T;T;T;T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	4.41	3.55	0.40652	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	U	0.000064	T	0.68100	0.2964	L	0.37897	1.145	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.77557	0.99;0.964;0.949;0.979	T	0.66972	-0.5788	10	0.52906	T	0.07	-26.2983	10.8671	0.46862	0.0:0.9011:0.0:0.0988	.	80;136;70;53	B4DJG4;Q6P2M8-5;B4E1A6;Q6P2M8	.;.;.;KCC1B_HUMAN	C	53;53;53;53;70;136;53;53;53;53	ENSP00000340586:G53C;ENSP00000359169:G53C;ENSP00000377417:G53C;ENSP00000359161:G53C;ENSP00000359164:G70C;ENSP00000405950:G136C;ENSP00000415770:G53C;ENSP00000391772:G53C;ENSP00000411267:G53C;ENSP00000396128:G53C	ENSP00000340586:G53C	G	-	1	0	PNCK	152591258	0.998000	0.40836	0.846000	0.33378	0.774000	0.43823	3.823000	0.55715	0.668000	0.31126	-0.505000	0.04504	GGC		0.701	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		27	96	1	0	2.12542e-12	0.00632	2.53241e-12	27	96				
L1CAM	3897	broad.mit.edu	37	X	153134081	153134081	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:153134081C>T	ENST00000370060.1	-	13	1670	c.1481G>A	c.(1480-1482)cGc>cAc	p.R494H	L1CAM_ENST00000543994.1_Missense_Mutation_p.R496H|L1CAM_ENST00000361699.4_Missense_Mutation_p.R494H|L1CAM_ENST00000538883.1_Missense_Mutation_p.R496H|L1CAM_ENST00000361981.3_Missense_Mutation_p.R489H|L1CAM_ENST00000370055.1_Missense_Mutation_p.R489H|L1CAM_ENST00000370057.3_Missense_Mutation_p.R494H	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	494	Ig-like C2-type 5.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)	p.R494H(2)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAGAAGTAGCGTCCGGTGTC	0.552																																							uc004fjb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(1)	9						c.(1480-1482)CGC>CAC		L1 cell adhesion molecule isoform 1 precursor							139.0	99.0	113.0					X																	153134081		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153134081C>T	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1481G>A	X.37:g.153134081C>T	ENSP00000359077:p.Arg494His					L1CAM_uc004fjc.2_Missense_Mutation_p.R494H|L1CAM_uc010nuo.2_Missense_Mutation_p.R489H|L1CAM_uc004fjd.1_Missense_Mutation_p.R308H	p.R494H	NM_000425	NP_000416	P32004	L1CAM_HUMAN			12	1589	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		494			Extracellular (Potential).|Ig-like C2-type 5.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.1481G>A	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.031411	0.35797	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.62	1.83	0.25207	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.546558	0.17916	N	0.157665	T	0.47078	0.1426	L	0.35414	1.06	0.25364	N	0.988755	B;B;B	0.14012	0.007;0.008;0.009	B;B;B	0.13407	0.001;0.009;0.001	T	0.31110	-0.9955	10	0.38643	T	0.18	.	1.3833	0.02235	0.1298:0.2255:0.1858:0.4589	.	489;494;494	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	H	494;496;494;496;489;489;494	ENSP00000359077:R494H;ENSP00000438430:R496H;ENSP00000359074:R494H;ENSP00000439645:R496H;ENSP00000354712:R489H;ENSP00000359072:R489H;ENSP00000355380:R494H	ENSP00000355380:R494H	R	-	2	0	L1CAM	152787275	0.955000	0.32602	0.896000	0.35187	0.978000	0.69477	0.484000	0.22308	0.210000	0.20664	0.529000	0.55759	CGC		0.552	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		71	22	0	0	0	0.01441	0	71	22				
L1CAM	3897	broad.mit.edu	37	X	153135921	153135921	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:153135921A>C	ENST00000370060.1	-	8	917	c.728T>G	c.(727-729)cTc>cGc	p.L243R	L1CAM_ENST00000543994.1_Missense_Mutation_p.L245R|L1CAM_ENST00000361699.4_Missense_Mutation_p.L243R|L1CAM_ENST00000538883.1_Missense_Mutation_p.L245R|L1CAM_ENST00000361981.3_Missense_Mutation_p.L238R|L1CAM_ENST00000370055.1_Missense_Mutation_p.L238R|L1CAM_ENST00000370057.3_Missense_Mutation_p.L243R	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	243	Ig-like C2-type 3.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTGGGGAAGAGCAGGCGCGG	0.632																																							uc004fjb.2		NA																	0				ovary(8)|central_nervous_system(1)	9						c.(727-729)CTC>CGC		L1 cell adhesion molecule isoform 1 precursor							65.0	62.0	63.0					X																	153135921		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153135921A>C	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.728T>G	X.37:g.153135921A>C	ENSP00000359077:p.Leu243Arg					L1CAM_uc004fjc.2_Missense_Mutation_p.L243R|L1CAM_uc010nuo.2_Missense_Mutation_p.L238R|L1CAM_uc004fjd.1_Missense_Mutation_p.L57R|L1CAM_uc004fje.1_Missense_Mutation_p.L238R	p.L243R	NM_000425	NP_000416	P32004	L1CAM_HUMAN			7	836	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		243			Extracellular (Potential).|Ig-like C2-type 3.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.728T>G	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	A	19.08	3.758025	0.69648	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000540065;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.63255	-0.02;-0.03;-0.02;-0.02;0.0;0.0;-0.03	4.84	4.84	0.62591	Immunoglobulin-like (1);	0.150225	0.31358	N	0.007782	T	0.70334	0.3212	L	0.56280	1.765	0.41191	D	0.986307	D;P;D	0.76494	0.999;0.803;0.999	D;P;D	0.79784	0.993;0.668;0.984	T	0.66771	-0.5839	10	0.12766	T	0.61	.	11.4527	0.50162	1.0:0.0:0.0:0.0	.	238;243;243	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	R	243;245;243;245;238;113;238;243	ENSP00000359077:L243R;ENSP00000438430:L245R;ENSP00000359074:L243R;ENSP00000439645:L245R;ENSP00000354712:L238R;ENSP00000359072:L238R;ENSP00000355380:L243R	ENSP00000355380:L243R	L	-	2	0	L1CAM	152789115	0.993000	0.37304	1.000000	0.80357	0.993000	0.82548	3.176000	0.50863	1.602000	0.50124	0.430000	0.28490	CTC		0.632	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		5	43	0	0	0	0.001168	0	5	43				
TKTL1	8277	broad.mit.edu	37	X	153553731	153553731	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:153553731A>G	ENST00000369915.3	+	10	1553	c.1364A>G	c.(1363-1365)tAc>tGc	p.Y455C	TKTL1_ENST00000369912.2_Missense_Mutation_p.Y399C|TKTL1_ENST00000217905.7_Missense_Mutation_p.Y195C	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	455					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATGGTTATTTACACCCCACAA	0.448																																							uc004fkg.2		NA																	0				ovary(3)|skin(1)	4						c.(1363-1365)TAC>TGC		transketolase-like 1 isoform a							161.0	127.0	139.0					X																	153553731		2203	4300	6503	SO:0001583	missense	8277				glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	g.chrX:153553731A>G	X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.1364A>G	X.37:g.153553731A>G	ENSP00000358931:p.Tyr455Cys					TKTL1_uc011mzl.1_Missense_Mutation_p.Y449C|TKTL1_uc011mzm.1_Missense_Mutation_p.Y251C|TKTL1_uc004fkh.2_Missense_Mutation_p.Y399C	p.Y455C	NM_012253	NP_036385	P51854	TKTL1_HUMAN			10	1550	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		455					A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Missense_Mutation	SNP	ENST00000369915.3	37	c.1364A>G	CCDS35448.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.916100	0.52546	.	.	ENSG00000007350	ENST00000369915;ENST00000441970;ENST00000217905;ENST00000369912	T;T;T	0.56611	1.43;0.45;1.18	4.82	4.82	0.62117	Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);	0.000000	0.85682	D	0.000000	T	0.78868	0.4351	H	0.94423	3.535	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.84447	0.0586	10	0.72032	D	0.01	-27.4097	12.5238	0.56075	1.0:0.0:0.0:0.0	.	195;449;455	B7Z7M4;B7Z7I0;P51854	.;.;TKTL1_HUMAN	C	455;399;195;399	ENSP00000358931:Y455C;ENSP00000217905:Y195C;ENSP00000358928:Y399C	ENSP00000217905:Y195C	Y	+	2	0	TKTL1	153206925	1.000000	0.71417	0.138000	0.22173	0.209000	0.24338	8.434000	0.90294	1.801000	0.52704	0.242000	0.17961	TAC		0.448	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1	NM_012253		3	147	0	0	0	0.009096	0	3	147				
PCDH11Y	83259	broad.mit.edu	37	Y	4925273	4925273	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrY:4925273C>G	ENST00000333703.4	+	4	889	c.376C>G	c.(376-378)Cat>Gat	p.H126D	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.H137D|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.H137D	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	137	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.H137D(4)|p.H126D(2)		autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AAGGGATGAGCATTGCTTTTA	0.408																																							uc004fqo.2		NA																	6	Substitution - Missense(6)		lung(6)		0						c.(409-411)CAT>GAT		protocadherin 11 Y-linked isoform c																																				SO:0001583	missense	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4925273C>G	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.376C>G	Y.37:g.4925273C>G	ENSP00000330552:p.His126Asp					PCDH11Y_uc010nwg.1_Missense_Mutation_p.H126D|PCDH11Y_uc004fql.1_Missense_Mutation_p.H126D|PCDH11Y_uc004fqm.1_Missense_Mutation_p.H126D|PCDH11Y_uc004fqn.1_Missense_Mutation_p.H137D	p.H137D	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN			1	1143	+			137			Extracellular (Potential).|Cadherin 1.		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000333703.4	37	c.409C>G	CCDS14776.1																																																																																				0.408	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973		93	55	0	0	0	0.01441	0	93	55				
FAM71A	149647	broad.mit.edu	37	1	212799845	212799845	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr1:212799845delG	ENST00000294829.3	+	1	2057	c.1626delG	c.(1624-1626)gtgfs	p.V542fs	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	542						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CAAAAGTAGTGGGCACACCAC	0.582																																							uc001hjk.2		NA																	0				skin(3)|ovary(1)|central_nervous_system(1)	5						c.(1624-1626)GTGfs		hypothetical protein LOC149647							72.0	64.0	67.0					1																	212799845		2203	4300	6503	SO:0001589	frameshift_variant	149647							g.chr1:212799845delG		CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.1626delG	1.37:g.212799845delG	ENSP00000294829:p.Val542fs					uc010pth.1_RNA	p.V542fs	NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)	1	2030	+			542					Q5VTZ1	Frame_Shift_Del	DEL	ENST00000294829.3	37	c.1626delG	CCDS1507.1																																																																																				0.582	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606		77	125	NA	NA	NA	NA	NA	77	125	---	---	---	---
CNTN5	53942	broad.mit.edu	37	11	99690425	99690425	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr11:99690425delG	ENST00000524871.1	+	4	496	c.206delG	c.(205-207)tggfs	p.W69fs	CNTN5_ENST00000528682.1_Frame_Shift_Del_p.W69fs|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000527185.1_Frame_Shift_Del_p.W69fs|CNTN5_ENST00000279463.3_Frame_Shift_Del_p.W69fs	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	69					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCACCCAGCTGGCTAGGGGCA	0.433																																							uc001pga.2		NA																	0				skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(205-207)TGGfs		contactin 5 isoform long							80.0	80.0	80.0					11																	99690425		1912	4113	6025	SO:0001589	frameshift_variant	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99690425delG	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.206delG	11.37:g.99690425delG	ENSP00000435637:p.Trp69fs					CNTN5_uc009ywv.1_Frame_Shift_Del_p.W69fs|CNTN5_uc001pfz.2_Frame_Shift_Del_p.W69fs|CNTN5_uc001pgb.2_Intron	p.W69fs	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	4	545	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	69					A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Frame_Shift_Del	DEL	ENST00000524871.1	37	c.206delG	CCDS53696.1																																																																																				0.433	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		8	94	NA	NA	NA	NA	NA	8	94	---	---	---	---
KCNA6	3742	broad.mit.edu	37	12	4920328	4920328	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr12:4920328delG	ENST00000280684.3	+	1	1987	c.1121delG	c.(1120-1122)aggfs	p.R374fs	KCNA6_ENST00000433855.1_Frame_Shift_Del_p.R374fs|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	374					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	GCCTCCATGAGGGAGCTGGGG	0.597										HNSCC(72;0.22)																													uc001qng.2		NA																	0				skin(2)|ovary(1)	3						c.(1120-1122)AGGfs		potassium voltage-gated channel, shaker-related							53.0	47.0	49.0					12																	4920328		2202	4279	6481	SO:0001589	frameshift_variant	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4920328delG	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.1121delG	12.37:g.4920328delG	ENSP00000280684:p.Arg374fs	HNSCC(72;0.22)					p.R374fs	NM_002235	NP_002226	P17658	KCNA6_HUMAN			1	1987	+			374						Frame_Shift_Del	DEL	ENST00000280684.3	37	c.1121delG	CCDS8534.1																																																																																				0.597	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		16	48	NA	NA	NA	NA	NA	16	48	---	---	---	---
CD2BP2	10421	broad.mit.edu	37	16	30365550	30365552	+	In_Frame_Del	DEL	CAT	CAT	-	rs202017154		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	CAT	CAT	-	-	CAT	CAT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr16:30365550_30365552delCAT	ENST00000305596.3	-	3	345_347	c.170_172delATG	c.(169-174)gatggg>ggg	p.D57del	CD2BP2_ENST00000569466.1_In_Frame_Del_p.D57del|RP11-347C12.10_ENST00000563252.1_lincRNA	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	57					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CTGGACCCCCCATCATCATCATC	0.532																																							uc002dxr.2		NA																	0				ovary(1)	1						c.(169-174)GATGGG>GGG		CD2 antigen (cytoplasmic tail) binding protein																																				SO:0001651	inframe_deletion	10421				assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	g.chr16:30365550_30365552delCAT	AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 59"""	604470	"""CD2 antigen (cytoplasmic tail)-binding protein 2"""			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.170_172delATG	16.37:g.30365559_30365561delCAT	ENSP00000304903:p.Asp57del					CD2BP2_uc002dxs.2_In_Frame_Del_p.D57del	p.D57del	NM_006110	NP_006101	O95400	CD2B2_HUMAN			2	423_425	-			57					B2RDX2|Q9ULP2	In_Frame_Del	DEL	ENST00000305596.3	37	c.170_172delATG	CCDS10675.1																																																																																				0.532	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255528.1	NM_006110		8	818	NA	NA	NA	NA	NA	8	818	---	---	---	---
IL12RB1	3594	broad.mit.edu	37	19	18194265	18194265	+	Frame_Shift_Del	DEL	G	G	-	rs113524129		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr19:18194265delG	ENST00000600835.2	-	3	399	c.101delC	c.(100-102)ccgfs	p.P35fs	IL12RB1_ENST00000593993.2_Frame_Shift_Del_p.P35fs|IL12RB1_ENST00000322153.7_Frame_Shift_Del_p.P35fs			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	35					cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CGGATATGGCGGGTCCTGAAA	0.562																																							uc002nhw.1		NA																	0				pancreas(1)	1						c.(100-102)CCGfs		interleukin 12 receptor, beta 1 isoform 1							160.0	128.0	139.0					19																	18194265		2203	4300	6503	SO:0001589	frameshift_variant	3594				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	g.chr19:18194265delG	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.101delC	19.37:g.18194265delG	ENSP00000470788:p.Pro35fs					IL12RB1_uc010xqb.1_Frame_Shift_Del_p.P34fs|IL12RB1_uc002nhx.1_Frame_Shift_Del_p.P74fs|IL12RB1_uc002nhy.2_Frame_Shift_Del_p.P34fs	p.P34fs	NM_005535	NP_005526	P42701	I12R1_HUMAN			2	165	-			34			Extracellular (Potential).		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Frame_Shift_Del	DEL	ENST00000600835.2	37	c.101delC	CCDS54232.1																																																																																				0.562	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			53	119	NA	NA	NA	NA	NA	53	119	---	---	---	---
REG1B	5968	broad.mit.edu	37	2	79314038	79314040	+	In_Frame_Del	DEL	TCT	TCT	-	rs139007123	byFrequency	TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	TCT	TCT	-	-	TCT	TCT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr2:79314038_79314040delTCT	ENST00000305089.3	-	3	161_163	c.81_83delAGA	c.(79-84)acagag>acg	p.E28del		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	28					cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)	p.E28Q(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						ATTAGGCAGCTCTGTCTGGGACT	0.493																																							uc002sny.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	central_nervous_system(1)|skin(1)	2						c.(79-84)ACAGAG>ACG		regenerating islet-derived 1 beta precursor																																				SO:0001651	inframe_deletion	5968				cell proliferation	extracellular region	sugar binding	g.chr2:79314038_79314040delTCT		CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"""lithostathine 1 beta"", ""secretory pancreatic stone protein 2"""	167771	"""regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"""			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.81_83delAGA	2.37:g.79314038_79314040delTCT	ENSP00000303206:p.Glu28del					REG1B_uc010ffv.1_In_Frame_Del_p.E28del|REG1B_uc010ffw.2_In_Frame_Del_p.E28del	p.E28del	NM_006507	NP_006498	P48304	REG1B_HUMAN			3	193_195	-			28						In_Frame_Del	DEL	ENST00000305089.3	37	c.81_83delAGA	CCDS1963.1																																																																																				0.493	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252292.2	NM_006507		59	248	NA	NA	NA	NA	NA	59	248	---	---	---	---
RSPH14	27156	broad.mit.edu	37	22	23482595	23482595	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:23482595delG	ENST00000216036.4	-	2	209	c.13delC	c.(13-15)cagfs	p.Q5fs	RTDR1_ENST00000406876.1_Frame_Shift_Del_p.Q5fs	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		5										breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		AAGGAGTTCTGGGAATGGGCC	0.488																																							uc002zwt.2		NA																	0				ovary(1)	1						c.(13-15)CAGfs		rhabdoid tumor deletion region protein 1							84.0	77.0	79.0					22																	23482595		2203	4300	6503	SO:0001589	frameshift_variant	27156						binding	g.chr22:23482595delG																												ENST00000216036.4:c.13delC	22.37:g.23482595delG	ENSP00000216036:p.Gln5fs					RTDR1_uc010gtv.1_Frame_Shift_Del_p.Q5fs	p.Q5fs	NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN		READ - Rectum adenocarcinoma(21;0.175)	2	171	-	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		5						Frame_Shift_Del	DEL	ENST00000216036.4	37	c.13delC	CCDS13803.1																																																																																				0.488	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1			7	77	NA	NA	NA	NA	NA	7	77	---	---	---	---
SLC5A1	6523	broad.mit.edu	37	22	32439304	32439304	+	Frame_Shift_Del	DEL	G	G	-	rs148720069	byFrequency	TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr22:32439304delG	ENST00000266088.4	+	1	286	c.36delG	c.(34-36)gcgfs	p.A12fs		NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	12					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	AGACCACCGCGGTCACCCGGC	0.597																																							uc003amc.2		NA																	0				skin(1)	1						c.(34-36)GCGfs		solute carrier family 5 (sodium/glucose							126.0	95.0	106.0					22																	32439304		2203	4300	6503	SO:0001589	frameshift_variant	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32439304delG		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.36delG	22.37:g.32439304delG	ENSP00000266088:p.Ala12fs						p.A12fs	NM_000343	NP_000334	P13866	SC5A1_HUMAN			1	268	+			12			Extracellular (Potential).		B2R7E2|B7Z4Q9|B7ZA69	Frame_Shift_Del	DEL	ENST00000266088.4	37	c.36delG	CCDS13902.1																																																																																				0.597	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		20	50	NA	NA	NA	NA	NA	20	50	---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130285632	130285633	+	Frame_Shift_Ins	INS	-	-	C	rs374279156		TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:130285632_130285633insC	ENST00000358511.6	+	4	1400_1401	c.1369_1370insC	c.(1369-1371)acgfs	p.T457fs	COL6A6_ENST00000453409.2_Frame_Shift_Ins_p.T457fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	457	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGAAATGAAGACGTTCCTGTCA	0.5																																							uc010htl.2		NA																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(1369-1371)ACGfs		collagen type VI alpha 6 precursor																																				SO:0001589	frameshift_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130285632_130285633insC	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1370dupC	3.37:g.130285633_130285633dupC	ENSP00000351310:p.Thr457fs						p.T457fs	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			4	1400_1401	+			457			VWFA 3.|Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Frame_Shift_Ins	INS	ENST00000358511.6	37	c.1369_1370insC	CCDS46911.1																																																																																				0.500	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		27	133	NA	NA	NA	NA	NA	27	133	---	---	---	---
CLSTN2	64084	broad.mit.edu	37	3	140281113	140281113	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:140281113delG	ENST00000458420.3	+	13	2365	c.2175delG	c.(2173-2175)ctgfs	p.L725fs		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	725					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						AACGACACCTGGATGCCACTA	0.527										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	GBM(45;858 913 3709 36904 37282)	uc003etn.2		NA																	0				skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(2173-2175)CTGfs		calsyntenin 2 precursor							110.0	103.0	105.0					3																	140281113		2203	4300	6503	SO:0001589	frameshift_variant	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140281113delG	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2175delG	3.37:g.140281113delG	ENSP00000402460:p.Leu725fs	HNSCC(16;0.037)					p.L725fs	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			13	2365	+			725			Extracellular (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Frame_Shift_Del	DEL	ENST00000458420.3	37	c.2175delG	CCDS3112.1																																																																																				0.527	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		19	103	NA	NA	NA	NA	NA	19	103	---	---	---	---
COMMD2	51122	broad.mit.edu	37	3	149470067	149470068	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr3:149470067_149470068insA	ENST00000473414.1	-	2	128_129	c.74_75insT	c.(73-75)gccfs	p.A25fs		NM_016094.3	NP_057178.2	Q86X83	COMD2_HUMAN	COMM domain containing 2	25										NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCCAAACTCGGCGACCACTGC	0.619																																							uc003exk.2		NA																	0					0						c.(73-75)GCCfs		COMM domain containing 2																																				SO:0001589	frameshift_variant	51122						protein binding	g.chr3:149470067_149470068insA	AY542158	CCDS3145.1	3q25.1	2004-02-20			ENSG00000114744	ENSG00000114744			24993	protein-coding gene	gene with protein product						15799966	Standard	NM_016094		Approved	HSPC042	uc003exj.2	Q86X83	OTTHUMG00000159616	ENST00000473414.1:c.74_75insT	3.37:g.149470067_149470068insA	ENSP00000419475:p.Ala25fs						p.A25fs	NM_016094	NP_057178	Q86X83	COMD2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		2	121_122	-			25					Q561V4|Q9H3L5|Q9Y5V1	Frame_Shift_Ins	INS	ENST00000473414.1	37	c.74_75insT	CCDS3145.1																																																																																				0.619	COMMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356515.1	NM_016094		26	168	NA	NA	NA	NA	NA	26	168	---	---	---	---
HELQ	113510	broad.mit.edu	37	4	84376684	84376698	+	In_Frame_Del	DEL	TTTTCCGCCTCCTGT	TTTTCCGCCTCCTGT	-	rs368639419|rs150006112|rs555674101	byFrequency	TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	TTTTCCGCCTCCTGT	TTTTCCGCCTCCTGT	-	-	TTTTCCGCCTCCTGT	TTTTCCGCCTCCTGT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr4:84376684_84376698delTTTTCCGCCTCCTGT	ENST00000295488.3	-	1	311_325	c.149_163delACAGGAGGCGGAAAA	c.(148-165)aacaggaggcggaaaacc>acc	p.NRRRK50del	MRPS18C_ENST00000295491.4_5'Flank|MRPS18C_ENST00000507019.1_5'Flank|HELQ_ENST00000440639.2_5'UTR|MRPS18C_ENST00000507349.1_5'Flank|HELQ_ENST00000510985.1_In_Frame_Del_p.NRRRK50del	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	50					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						ACGCCCGCGGTTTTCCGCCTCCTGTTCTCAGCCAC	0.6								Other identified genes with known or suspected DNA repair function			OREG0016254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003hom.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(148-165)AACAGGAGGCGGAAAACC>ACC	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	DNA helicase HEL308																																				SO:0001651	inframe_deletion	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84376684_84376698delTTTTCCGCCTCCTGT	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.149_163delACAGGAGGCGGAAAA	4.37:g.84376684_84376698delTTTTCCGCCTCCTGT	ENSP00000295488:p.Asn50_Lys54del		OREG0016254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1228	HELQ_uc010ikb.2_In_Frame_Del_p.NRRRK50del|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA|HELQ_uc003hon.1_5'UTR|HELQ_uc003hoo.1_In_Frame_Del_p.NRRRK50del|HELQ_uc003hop.1_5'UTR|HELQ_uc003hoq.1_In_Frame_Del_p.NRRRK50del|MRPS18C_uc003hor.3_5'Flank|MRPS18C_uc011ccu.1_5'Flank	p.NRRRK50del	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN			1	328_342	-			50_54					Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	In_Frame_Del	DEL	ENST00000295488.3	37	c.149_163delACAGGAGGCGGAAAA	CCDS3603.1																																																																																				0.600	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		23	232	NA	NA	NA	NA	NA	23	232	---	---	---	---
ZNF623	9831	broad.mit.edu	37	8	144732931	144732931	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr8:144732931delG	ENST00000501748.2	+	1	978	c.889delG	c.(889-891)gggfs	p.G297fs	ZNF623_ENST00000458270.2_Frame_Shift_Del_p.G257fs|ZNF623_ENST00000526926.1_Frame_Shift_Del_p.G257fs	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	297					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)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAAAGAATGTGGGAAGGCATT	0.453																																							uc003yzd.2		NA																	0					0						c.(889-891)GGGfs		zinc finger protein 623 isoform 1							100.0	91.0	94.0					8																	144732931		2203	4300	6503	SO:0001589	frameshift_variant	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144732931delG	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.889delG	8.37:g.144732931delG	ENSP00000445979:p.Gly297fs					ZNF623_uc011lkp.1_Frame_Shift_Del_p.G257fs|ZNF623_uc003yzc.2_Frame_Shift_Del_p.G257fs	p.G297fs	NM_014789	NP_055604	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	978	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		297			C2H2-type 7.		A4FU80|B4DGP3|E7ENV5	Frame_Shift_Del	DEL	ENST00000501748.2	37	c.889delG	CCDS34957.1																																																																																				0.453	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789		33	121	NA	NA	NA	NA	NA	33	121	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139396481	139396482	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chr9:139396481_139396482insC	ENST00000277541.6	-	29	5518_5519	c.5443_5444insG	c.(5443-5445)gacfs	p.D1815fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1815					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGGTCCTCGTCCCCCCACTCA	0.673			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																													uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(5443-5445)GACfs		notch1 preproprotein																																				SO:0001589	frameshift_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139396481_139396482insC	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5444dupG	9.37:g.139396487_139396487dupC	ENSP00000277541:p.Asp1815fs	HNSCC(8;0.001)					p.D1815fs	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	29	5443_5444	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1815			Cytoplasmic (Potential).		Q59ED8|Q5SXM3	Frame_Shift_Ins	INS	ENST00000277541.6	37	c.5443_5444insG	CCDS43905.1																																																																																				0.673	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		60	71	NA	NA	NA	NA	NA	60	71	---	---	---	---
OPHN1	4983	broad.mit.edu	37	X	67283757	67283757	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1592-01A-01D-0969-08	TCGA-55-1592-11A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1a09c2f5-cd26-4e6a-8993-c436312fdbb3	28c0bdc9-9dd1-4ce6-9254-e177f58970b8	g.chrX:67283757delG	ENST00000355520.5	-	21	2738	c.2097delC	c.(2095-2097)accfs	p.T699fs	OPHN1_ENST00000540071.1_Intron|OPHN1_ENST00000484842.1_5'UTR	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	699	Pro-rich.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						AGGGGGTCTTGGTGGGCCCAG	0.617																																							uc004dww.3		NA																	0				ovary(2)	2						c.(2095-2097)ACCfs		oligophrenin 1							46.0	34.0	38.0					X																	67283757		2202	4300	6502	SO:0001589	frameshift_variant	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67283757delG	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.2097delC	X.37:g.67283757delG	ENSP00000347710:p.Thr699fs					OPHN1_uc011mpg.1_Intron	p.T699fs	NM_002547	NP_002538	O60890	OPHN1_HUMAN			21	2391	-			699			Pro-rich.		B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Frame_Shift_Del	DEL	ENST00000355520.5	37	c.2097delC	CCDS14388.1																																																																																				0.617	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547		8	11	NA	NA	NA	NA	NA	8	11	---	---	---	---
