#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
CLCN6	1185	broad.mit.edu	37	1	11888677	11888677	+	Missense_Mutation	SNP	G	G	A	rs371436093		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:11888677G>A	ENST00000346436.6	+	12	1169	c.1117G>A	c.(1117-1119)Gtc>Atc	p.V373I	CLCN6_ENST00000312413.6_Intron|CLCN6_ENST00000376492.3_Intron|CLCN6_ENST00000376496.3_Missense_Mutation_p.V373I|CLCN6_ENST00000376487.3_Missense_Mutation_p.V351I	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	373					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTAAGCTCGTCAGGTATCT	0.627																																						uc001ate.3		NaN																	0					0						c.(1117-1119)GTC>ATC		chloride channel 6 isoform ClC-6a							90.0	92.0	91.0					1																	11888677		2203	4300	6503	SO:0001583	missense	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11888677G>A	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.1117G>A	1.37:g.11888677G>A	ENSP00000234488:p.Val373Ile					CLCN6_uc009vnh.1_Intron|CLCN6_uc010oat.1_Missense_Mutation_p.V89I|CLCN6_uc010oau.1_Missense_Mutation_p.V351I	p.V373I	NM_001286	NP_001277	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	12	1230	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	373			Helical; (By similarity).		A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	c.1117G>A	CCDS138.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228893	0.39399	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.92699	-3.09;-3.09;-3.09	6.17	6.17	0.99709	Chloride channel, core (2);	0.106748	0.64402	D	0.000005	D	0.86364	0.5915	N	0.13299	0.325	0.80722	D	1	B;B	0.15473	0.002;0.013	B;B	0.15870	0.002;0.014	T	0.79303	-0.1859	10	0.30078	T	0.28	-41.9228	19.8676	0.96824	0.0:0.0:1.0:0.0	.	351;373	F8W9R3;P51797	.;CLCN6_HUMAN	I	373;351;373	ENSP00000234488:V373I;ENSP00000365670:V351I;ENSP00000365679:V373I	ENSP00000234488:V373I	V	+	1	0	CLCN6	11811264	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.112000	0.64634	2.941000	0.99782	0.655000	0.94253	GTC		0.627	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2		NM_001286		6	108	0	0	0	0.001168	0	6	108		
VPS13D	55187	broad.mit.edu	37	1	12371682	12371682	+	Splice_Site	SNP	T	T	C	rs1137787		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:12371682T>C	ENST00000358136.3	+	28	6952	c.6822T>C	c.(6820-6822)caT>caC	p.H2274H	VPS13D_ENST00000356315.4_Splice_Site_p.H2274H	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAAGAATTCATGTGAGTGAGA	0.433																																						uc001atv.2		NaN																	0				ovary(4)|pancreas(1)	5						c.(6820-6822)CAT>CAC		vacuolar protein sorting 13D isoform 1							135.0	134.0	134.0					1																	12371682		2203	4300	6503	SO:0001630	splice_region_variant	55187				protein localization			g.chr1:12371682T>C	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.6822+1T>C	1.37:g.12371682T>C						VPS13D_uc001atw.2_Silent_p.H2274H|VPS13D_uc001atx.2_Silent_p.H1462H|VPS13D_uc001aty.1_Silent_p.H12H	p.H2274H	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	28	6963	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2274						Silent	SNP	ENST00000358136.3	37	c.6822T>C	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	T	9.541	1.113421	0.20795	.	.	ENSG00000048707	ENST00000011700	.	.	.	5.66	-2.69	0.06022	.	.	.	.	.	T	0.62441	0.2428	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58607	-0.7607	4	.	.	.	.	12.5934	0.56454	0.0:0.3926:0.0:0.6074	.	.	.	.	T	1097	.	.	I	+	2	0	VPS13D	12294269	0.698000	0.27777	0.969000	0.41365	0.986000	0.74619	-0.170000	0.09897	-0.785000	0.04522	0.460000	0.39030	ATA		0.433	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2		NM_015378	Silent	14	109	0	0	0	0.020292	0	14	109		
AADACL4	343066	broad.mit.edu	37	1	12704629	12704629	+	Missense_Mutation	SNP	T	T	G	rs200895543		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:12704629T>G	ENST00000376221.1	+	1	64	c.64T>G	c.(64-66)Tgg>Ggg	p.W22G		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	22						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GGTCTTTGTCTGGGCTGTCTT	0.552													T|||	1	0.000199681	0.0	0.0	5008	,	,		20279	0.0		0.001	False		,,,				2504	0.0					uc001auf.2		NaN																	0					0						c.(64-66)TGG>GGG		arylacetamide deacetylase-like 4							200.0	173.0	182.0					1																	12704629		2203	4300	6503	SO:0001583	missense	343066					integral to membrane	carboxylesterase activity	g.chr1:12704629T>G		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.64T>G	1.37:g.12704629T>G	ENSP00000365395:p.Trp22Gly						p.W22G	NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	1	64	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	22			Helical; Signal-anchor for type II membrane protein; (Potential).			Missense_Mutation	SNP	ENST00000376221.1	37	c.64T>G	CCDS30590.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	12.88	2.069298	0.36470	.	.	ENSG00000204518	ENST00000376221	T	0.04234	3.67	3.74	3.74	0.42951	.	0.613129	0.14544	N	0.313089	T	0.09686	0.0238	M	0.71206	2.165	0.09310	N	1	P	0.38078	0.617	B	0.43018	0.405	T	0.10042	-1.0647	10	0.39692	T	0.17	-21.3447	9.0279	0.36241	0.0:0.0:0.0:1.0	.	22	Q5VUY2	ADCL4_HUMAN	G	22	ENSP00000365395:W22G	ENSP00000365395:W22G	W	+	1	0	AADACL4	12627216	0.929000	0.31497	0.174000	0.22961	0.027000	0.11550	1.926000	0.40084	1.682000	0.51000	0.459000	0.35465	TGG		0.552	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1		NM_001013630		13	124	0	0	0	0.013537	0	13	124		
MFAP2	4237	broad.mit.edu	37	1	17303274	17303274	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:17303274G>A	ENST00000375535.3	-	5	459	c.170C>T	c.(169-171)cCc>cTc	p.P57L	MFAP2_ENST00000375534.3_Missense_Mutation_p.P56L|MFAP2_ENST00000438542.1_Missense_Mutation_p.P56L|MFAP2_ENST00000490075.1_5'UTR|RP1-37C10.3_ENST00000446261.1_RNA			P55001	MFAP2_HUMAN	microfibrillar-associated protein 2	57					extracellular matrix organization (GO:0030198)|platelet formation (GO:0030220)	extracellular region (GO:0005576)|microfibril (GO:0001527)				kidney(1)|lung(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TTCCTCGGAGGGCCGAGGAGT	0.667																																						uc001azw.2		NaN																	0					0						c.(169-171)CCC>CTC		microfibrillar-associated protein 2 isoform a							112.0	116.0	115.0					1																	17303274		2203	4300	6503	SO:0001583	missense	4237					microfibril		g.chr1:17303274G>A	BC015039	CCDS174.1, CCDS44071.1	1p36.1-p35	2008-02-05			ENSG00000117122	ENSG00000117122			7033	protein-coding gene	gene with protein product		156790				7759096	Standard	NM_017459		Approved	MAGP, MAGP-1	uc001azw.3	P55001	OTTHUMG00000002290	ENST00000375535.3:c.170C>T	1.37:g.17303274G>A	ENSP00000364685:p.Pro57Leu					MFAP2_uc001azx.2_Missense_Mutation_p.P56L|MFAP2_uc001azy.2_Missense_Mutation_p.P57L|MFAP2_uc010ocl.1_Missense_Mutation_p.P56L	p.P57L	NM_002403	NP_002394	P55001	MFAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	5	303	-		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	57					Q53X60|Q5JXY0	Missense_Mutation	SNP	ENST00000375535.3	37	c.170C>T	CCDS174.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.210823	0.39102	.	.	ENSG00000117122	ENST00000375535;ENST00000375534;ENST00000438542	.	.	.	3.69	3.69	0.42338	.	0.220219	0.26919	N	0.021827	T	0.49115	0.1538	L	0.44542	1.39	0.34019	D	0.652435	B;B	0.16396	0.017;0.017	B;B	0.20184	0.028;0.028	T	0.62101	-0.6925	9	0.72032	D	0.01	-35.3905	11.3146	0.49383	0.0:0.0:1.0:0.0	.	56;57	Q5JXY0;P55001	.;MFAP2_HUMAN	L	57;56;56	.	ENSP00000364684:P56L	P	-	2	0	MFAP2	17175861	0.981000	0.34729	0.091000	0.20842	0.698000	0.40448	3.565000	0.53798	1.797000	0.52628	0.561000	0.74099	CCC		0.667	MFAP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006609.1		NM_002403		4	89	0	0	0	0.009096	0	4	89		
ARID1A	8289	broad.mit.edu	37	1	27057947	27057947	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:27057947C>T	ENST00000324856.7	+	3	2026	c.1655C>T	c.(1654-1656)tCa>tTa	p.S552L	ARID1A_ENST00000374152.2_Missense_Mutation_p.S169L|ARID1A_ENST00000457599.2_Missense_Mutation_p.S552L	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	552					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCCCCTACTCACAGCCACAG	0.652			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NaN		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(1654-1656)TCA>TTA		AT rich interactive domain 1A isoform a							161.0	170.0	167.0					1																	27057947		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27057947C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1655C>T	1.37:g.27057947C>T	ENSP00000320485:p.Ser552Leu					ARID1A_uc001bmt.1_Missense_Mutation_p.S552L|ARID1A_uc001bmu.1_Missense_Mutation_p.S552L|ARID1A_uc001bmw.1_Missense_Mutation_p.S169L	p.S552L	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	3	2028	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	552					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.1655C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860586	0.51482	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.02682	4.43;4.2;4.25	5.44	4.53	0.55603	.	0.537613	0.18790	N	0.131084	T	0.02012	0.0063	N	0.08118	0	0.80722	D	1	B;B;B	0.14438	0.006;0.01;0.006	B;B;B	0.13407	0.004;0.009;0.004	T	0.54655	-0.8261	10	0.14252	T	0.57	-9.2552	14.3573	0.66745	0.0:0.9292:0.0:0.0708	.	552;552;206	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	L	552;552;169	ENSP00000320485:S552L;ENSP00000387636:S552L;ENSP00000363267:S169L	ENSP00000320485:S552L	S	+	2	0	ARID1A	26930534	1.000000	0.71417	1.000000	0.80357	0.332000	0.28634	4.593000	0.61034	1.530000	0.49136	-0.140000	0.14226	TCA		0.652	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		31	203	0	0	0	0.009535	0	31	203		
ARID1A	8289	broad.mit.edu	37	1	27057988	27057988	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:27057988C>T	ENST00000324856.7	+	3	2067	c.1696C>T	c.(1696-1698)Cag>Tag	p.Q566*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q183*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q566*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	566	Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCAGCAACCTCAGCAGCCAGC	0.637			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NaN		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(1696-1698)CAG>TAG		AT rich interactive domain 1A isoform a							156.0	158.0	157.0					1																	27057988		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27057988C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1696C>T	1.37:g.27057988C>T	ENSP00000320485:p.Gln566*					ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q566*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q566*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q183*	p.Q566*	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	3	2069	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	566			Poly-Gln.		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.1696C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	37	6.122945	0.97305	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	5.44	5.44	0.79542	.	0.058016	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-6.4504	17.6161	0.88068	0.0:1.0:0.0:0.0	.	.	.	.	X	566;566;183	.	ENSP00000320485:Q566X	Q	+	1	0	ARID1A	26930575	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	1.822000	0.39052	2.824000	0.97209	0.655000	0.94253	CAG		0.637	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		32	207	0	0	0	0.010818	0	32	207		
CSMD2	114784	broad.mit.edu	37	1	34164482	34164482	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:34164482C>T	ENST00000373380.1	-	3	635	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.E1266K			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1226	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)				AAATGACCTTCATCATGAACC	0.537																																						uc001bxn.1		NaN																	0				ovary(6)|skin(5)|pancreas(1)	12						c.(3676-3678)GAA>AAA		CUB and Sushi multiple domains 2							80.0	74.0	76.0					1																	34164482		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34164482C>T	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	ENST00000373380.1:c.415G>A	1.37:g.34164482C>T	ENSP00000362478:p.Glu139Lys					CSMD2_uc001bxm.1_Missense_Mutation_p.E1266K|CSMD2_uc001bxo.1_Missense_Mutation_p.E139K	p.E1226K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			24	3705	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1226			Sushi 7.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.3676G>A		.	.	.	.	.	.	.	.	.	.	C	15.28	2.788034	0.49997	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.65916	-0.18;-0.18	5.76	5.76	0.90799	Complement control module (2);Sushi/SCR/CCP (3);	0.342007	0.31347	N	0.007806	T	0.49115	0.1538	N	0.16567	0.415	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.12837	0.003;0.008;0.008	T	0.34650	-0.9820	10	0.23302	T	0.38	.	19.3155	0.94211	0.0:1.0:0.0:0.0	.	139;1226;1266	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	K	1266;139	ENSP00000362479:E1266K;ENSP00000362478:E139K	ENSP00000241312:E1226K	E	-	1	0	CSMD2	33937069	1.000000	0.71417	0.992000	0.48379	0.933000	0.57130	4.820000	0.62671	2.879000	0.98667	0.650000	0.86243	GAA		0.537	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4		NM_052896		7	44	0	0	0	0.00308	0	7	44		
CSMD2	114784	broad.mit.edu	37	1	34166205	34166205	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:34166205C>T	ENST00000373380.1	-	2	484	c.264G>A	c.(262-264)gtG>gtA	p.V88V	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Silent_p.V1215V			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1175	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)				TGTTCAAAGTCACCCCCATCA	0.483																																						uc001bxn.1		NaN																	0				ovary(6)|skin(5)|pancreas(1)	12						c.(3523-3525)GTG>GTA		CUB and Sushi multiple domains 2							108.0	95.0	99.0					1																	34166205		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34166205C>T	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	ENST00000373380.1:c.264G>A	1.37:g.34166205C>T						CSMD2_uc001bxm.1_Silent_p.V1215V|CSMD2_uc001bxo.1_Silent_p.V88V	p.V1175V	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			23	3554	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1175	V -> E (in Ref. 2; BAC87101).		Extracellular (Potential).|CUB 7.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373380.1	37	c.3525G>A																																																																																					0.483	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4		NM_052896		12	85	0	0	0	0.016723	0	12	85		
ZC3H12A	80149	broad.mit.edu	37	1	37947335	37947335	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:37947335C>T	ENST00000373087.6	+	4	833	c.717C>T	c.(715-717)atC>atT	p.I239I		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGACGGGATCGTGGTTTCCA	0.567																																						uc001cbb.3		NaN																	0				ovary(2)	2						c.(715-717)ATC>ATT		zinc finger CCCH-type containing 12A							239.0	205.0	217.0					1																	37947335		2203	4300	6503	SO:0001819	synonymous_variant	80149				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	g.chr1:37947335C>T		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.717C>T	1.37:g.37947335C>T						ZC3H12A_uc001cbc.1_5'UTR	p.I239I	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN			4	867	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	239						Silent	SNP	ENST00000373087.6	37	c.717C>T	CCDS417.1																																																																																				0.567	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2		NM_025079		11	73	0	0	0	0.013537	0	11	73		
EPS15	2060	broad.mit.edu	37	1	51912718	51912718	+	Silent	SNP	T	T	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:51912718T>C	ENST00000371733.3	-	10	807	c.711A>G	c.(709-711)aaA>aaG	p.K237K	EPS15_ENST00000371730.2_Silent_p.K237K	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	237	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH 3. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CGTCCATATCTTTATCAGTTT	0.363			T	MLL	ALL																																	uc001csq.1		NaN		Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		1	Whole gene deletion(1)		central_nervous_system(1)	lung(1)|kidney(1)	2						c.(709-711)AAA>AAG		epidermal growth factor receptor pathway							116.0	122.0	120.0					1																	51912718		2203	4300	6503	SO:0001819	synonymous_variant	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51912718T>C	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.711A>G	1.37:g.51912718T>C						EPS15_uc009vyz.1_Silent_p.K237K	p.K237K	NM_001981	NP_001972	P42566	EPS15_HUMAN			10	803	-			237			EH 3.|EF-hand 2.|2.		B2R8J7|D3DPJ2|Q5SRH4	Silent	SNP	ENST00000371733.3	37	c.711A>G	CCDS557.1																																																																																				0.363	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1		NM_001981		7	67	0	0	0	0.00308	0	7	67		
GLIS1	148979	broad.mit.edu	37	1	54059901	54059901	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:54059901C>G	ENST00000312233.2	-	3	1241	c.675G>C	c.(673-675)aaG>aaC	p.K225N		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						AGTCCTCGCCCTTGCGCTGGT	0.662																																						uc001cvr.1		NaN																	0				skin(1)	1						c.(673-675)AAG>AAC		GLIS family zinc finger 1							93.0	70.0	78.0					1																	54059901		2203	4300	6503	SO:0001583	missense	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:54059901C>G	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.675G>C	1.37:g.54059901C>G	ENSP00000309653:p.Lys225Asn						p.K225N	NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN			3	1242	-			225						Missense_Mutation	SNP	ENST00000312233.2	37	c.675G>C	CCDS582.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744734	0.69418	.	.	ENSG00000174332	ENST00000312233	D	0.91295	-2.82	5.2	5.2	0.72013	.	0.000000	0.56097	D	0.000023	D	0.91216	0.7232	M	0.87180	2.865	0.58432	D	0.999999	P	0.42375	0.778	P	0.44561	0.453	D	0.91154	0.4955	10	0.62326	D	0.03	.	5.5915	0.17303	0.1926:0.6871:0.0:0.1203	.	225	Q8NBF1	GLIS1_HUMAN	N	225	ENSP00000309653:K225N	ENSP00000309653:K225N	K	-	3	2	GLIS1	53832489	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.450000	0.35134	2.606000	0.88127	0.563000	0.77884	AAG		0.662	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1		NM_147193		3	20	0	0	0	0.004672	0	3	20		
DHCR24	1718	broad.mit.edu	37	1	55331117	55331117	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:55331117C>T	ENST00000371269.3	-	6	977	c.879G>A	c.(877-879)ctG>ctA	p.L293L	DHCR24_ENST00000535035.1_Silent_p.L252L|DHCR24_ENST00000537443.1_Intron	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	293					amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						CAATGCTATTCAGCTGAAATG	0.522																																					Pancreas(39;516 1021 24601 30715 32780)	uc001cyc.1		NaN																	0				pancreas(1)	1						c.(877-879)CTG>CTA		24-dehydrocholesterol reductase precursor							121.0	106.0	111.0					1																	55331117		2203	4300	6503	SO:0001819	synonymous_variant	1718				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding	g.chr1:55331117C>T	AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.879G>A	1.37:g.55331117C>T						DHCR24_uc010ooi.1_5'UTR|DHCR24_uc010ooj.1_Intron|DHCR24_uc010ook.1_Silent_p.L252L	p.L293L	NM_014762	NP_055577	Q15392	DHC24_HUMAN			6	1008	-			293					B7Z817|D3DQ51|Q9HBA8	Silent	SNP	ENST00000371269.3	37	c.879G>A	CCDS600.1																																																																																				0.522	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027680.1		NM_014762		8	58	0	0	0	0.006214	0	8	58		
ERICH3	127254	broad.mit.edu	37	1	75036915	75036915	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:75036915C>T	ENST00000326665.5	-	14	4697	c.4479G>A	c.(4477-4479)gcG>gcA	p.A1493A	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1493										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTGTTGCCATCGCCTGTAGAC	0.522																																						uc001dgg.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(4477-4479)GCG>GCA		hypothetical protein LOC127254							189.0	178.0	181.0					1																	75036915		2203	4300	6503	SO:0001819	synonymous_variant	127254							g.chr1:75036915C>T																												ENST00000326665.5:c.4479G>A	1.37:g.75036915C>T							p.A1493A	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	4698	-			1493					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.4479G>A	CCDS30755.1																																																																																				0.522	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1				13	150	0	0	0	0.020292	0	13	150		
ADAM30	11085	broad.mit.edu	37	1	120436733	120436733	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:120436733C>A	ENST00000369400.1	-	1	2385	c.2227G>T	c.(2227-2229)Gaa>Taa	p.E743*		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	743	5 X 9 AA approximate repeats.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GTTTTAGATTCTTCCTGTACA	0.358																																						uc001eij.2		NaN																	0				ovary(2)|lung(1)	3						c.(2227-2229)GAA>TAA		ADAM metallopeptidase domain 30 preproprotein							219.0	230.0	226.0					1																	120436733		2203	4300	6503	SO:0001587	stop_gained	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120436733C>A	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.2227G>T	1.37:g.120436733C>A	ENSP00000358407:p.Glu743*						p.E743*	NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	2381	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	743			2.|5 X 9 AA approximate repeats.|Cytoplasmic (Potential).		A8K8W8|Q5T3X6|Q9UKF1	Nonsense_Mutation	SNP	ENST00000369400.1	37	c.2227G>T	CCDS907.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808516	0.70797	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	.	.	.	2.1	-4.2	0.03823	.	8.835720	0.01173	U	0.006903	.	.	.	.	.	.	0.40822	D	0.98351	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	3.4399	0.07460	0.1824:0.3789:0.0:0.4387	.	.	.	.	X	743	.	ENSP00000358407:E743X	E	-	1	0	ADAM30	120238256	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.013000	0.12678	-1.156000	0.02818	-0.229000	0.12294	GAA		0.358	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1		NM_021794		8	157	1	0	0.00307968	0.00308	0.00322292	8	157		
FLG	2312	broad.mit.edu	37	1	152282624	152282624	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:152282624C>G	ENST00000368799.1	-	3	4773	c.4738G>C	c.(4738-4740)Gaa>Caa	p.E1580Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1580	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)			CCCGCTGATTCTCCCTGGCCC	0.597									Ichthyosis																													uc001ezu.1		NaN																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(4738-4740)GAA>CAA		filaggrin							163.0	174.0	170.0					1																	152282624		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.chr1:152282624C>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.4738G>C	1.37:g.152282624C>G	ENSP00000357789:p.Glu1580Gln						p.E1580Q	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4774	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1580			Ser-rich.|Filaggrin 9.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4738G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	8.033	0.762158	0.15914	.	.	ENSG00000143631	ENST00000368799	T	0.03920	3.76	2.49	-0.945	0.10388	.	.	.	.	.	T	0.00440	0.0014	N	0.01284	-0.91	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.42224	-0.9464	9	0.12766	T	0.61	.	6.6909	0.23171	0.0:0.1976:0.6125:0.1898	.	1580	P20930	FILA_HUMAN	Q	1580	ENSP00000357789:E1580Q	ENSP00000357789:E1580Q	E	-	1	0	FLG	150549248	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.788000	0.00768	-0.341000	0.08376	-1.650000	0.00758	GAA		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016		31	203	0	0	0	0.008361	0	31	203		
FLG	2312	broad.mit.edu	37	1	152285731	152285731	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:152285731G>A	ENST00000368799.1	-	3	1666	c.1631C>T	c.(1630-1632)tCc>tTc	p.S544F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	544	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)			GCTGTGATGGGAACCTGAGTG	0.557									Ichthyosis																													uc001ezu.1		NaN																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(1630-1632)TCC>TTC		filaggrin							362.0	354.0	357.0					1																	152285731		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.chr1:152285731G>A	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.1631C>T	1.37:g.152285731G>A	ENSP00000357789:p.Ser544Phe					uc001ezv.2_5'Flank	p.S544F	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1667	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		544			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.1631C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	8.773	0.926414	0.18056	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.01516	4.81	2.92	1.99	0.26369	.	.	.	.	.	T	0.03390	0.0098	M	0.79805	2.47	0.09310	N	1	D	0.69078	0.997	D	0.70016	0.967	T	0.35101	-0.9802	9	0.66056	D	0.02	.	5.9195	0.19073	0.1548:0.0:0.8452:0.0	.	544	P20930	FILA_HUMAN	F	544;76	ENSP00000357789:S544F	ENSP00000357789:S544F	S	-	2	0	FLG	150552355	0.019000	0.18553	0.008000	0.14137	0.038000	0.13279	3.140000	0.50585	0.570000	0.29347	0.603000	0.83216	TCC		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016		40	301	0	0	0	0.00623	0	40	301		
DARS2	55157	broad.mit.edu	37	1	173795890	173795890	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:173795890G>C	ENST00000361951.4	+	2	920	c.193G>C	c.(193-195)Gaa>Caa	p.E65Q	CENPL_ENST00000367710.3_5'Flank|CENPL_ENST00000495275.1_5'Flank|CENPL_ENST00000356198.2_5'Flank|CENPL_ENST00000345664.6_5'Flank|DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	65					gene expression (GO:0010467)|mitochondrial asparaginyl-tRNA aminoacylation (GO:0070145)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aspartate-tRNA ligase activity (GO:0004815)|aspartate-tRNA(Asn) ligase activity (GO:0050560)|ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	CTTAGGCCAAGAAGTCACCTT	0.398																																						uc001gjh.1		NaN																	0				central_nervous_system(2)	2						c.(193-195)GAA>CAA		aspartyl-tRNA synthetase 2, mitochondrial	L-Aspartic Acid(DB00128)						139.0	134.0	136.0					1																	173795890		2203	4300	6503	SO:0001583	missense	55157				tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr1:173795890G>C	AK022754	CCDS1311.1	1q25.1	2011-07-01	2007-02-23		ENSG00000117593	ENSG00000117593	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	25538	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 2, mitochondrial"""	610956				15779907	Standard	NM_018122		Approved	FLJ10514	uc001gjh.2	Q6PI48	OTTHUMG00000034803	ENST00000361951.4:c.193G>C	1.37:g.173795890G>C	ENSP00000355086:p.Glu65Gln					CENPL_uc009wwg.2_5'Flank|CENPL_uc001gje.3_5'Flank|CENPL_uc001gjg.3_5'Flank|CENPL_uc001gjf.3_5'Flank	p.E65Q	NM_018122	NP_060592	Q6PI48	SYDM_HUMAN			2	603	+			65						Missense_Mutation	SNP	ENST00000361951.4	37	c.193G>C	CCDS1311.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023591	0.54683	.	.	ENSG00000117593	ENST00000361951	T	0.77877	-1.13	5.57	5.57	0.84162	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.235530	0.42548	D	0.000684	T	0.65647	0.2711	L	0.48642	1.525	0.80722	D	1	P	0.38922	0.651	B	0.36030	0.216	T	0.71324	-0.4627	10	0.52906	T	0.07	-9.1738	18.322	0.90242	0.0:0.0:1.0:0.0	.	65	Q6PI48	SYDM_HUMAN	Q	65	ENSP00000355086:E65Q	ENSP00000355086:E65Q	E	+	1	0	DARS2	172062513	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.986000	0.49370	2.610000	0.88304	0.591000	0.81541	GAA		0.398	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084220.1		NM_018122		7	70	0	0	0	0.006214	0	7	70		
CR2	1380	broad.mit.edu	37	1	207639892	207639892	+	Missense_Mutation	SNP	C	C	T	rs150906379		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:207639892C>T	ENST00000367058.3	+	2	269	c.80C>T	c.(79-81)cCg>cTg	p.P27L	CR2_ENST00000458541.2_Missense_Mutation_p.P27L|CR2_ENST00000367057.3_Missense_Mutation_p.P27L|CR2_ENST00000367059.3_Missense_Mutation_p.P27L	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	27	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GGCTCTCCTCCGCCTATCCTA	0.413																																						uc001hfw.2		NaN																	0				upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						c.(79-81)CCG>CTG		complement component (3d/Epstein Barr virus)							122.0	128.0	126.0					1																	207639892		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207639892C>T	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.80C>T	1.37:g.207639892C>T	ENSP00000356025:p.Pro27Leu					CR2_uc001hfv.2_Missense_Mutation_p.P27L|CR2_uc009xch.2_Missense_Mutation_p.P27L	p.P27L	NM_001877	NP_001868	P20023	CR2_HUMAN			2	174	+			27			Sushi 1.|Extracellular (Potential).		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.80C>T	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.326028	0.60743	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.09	5.09	0.68999	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.81555	0.4847	M	0.80028	2.48	0.49130	D	0.999753	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.76575	0.976;0.988;0.976	D	0.83422	0.0033	9	0.66056	D	0.02	.	13.8653	0.63585	0.0:1.0:0.0:0.0	.	27;27;27	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	L	27	ENSP00000356025:P27L;ENSP00000356024:P27L;ENSP00000356026:P27L;ENSP00000404222:P27L	ENSP00000356024:P27L	P	+	2	0	CR2	205706515	0.946000	0.32159	0.966000	0.40874	0.280000	0.26924	1.987000	0.40687	2.662000	0.90505	0.655000	0.94253	CCG		0.413	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1		NM_001877		12	131	0	0	0	0.016723	0	12	131		
MARC2	54996	broad.mit.edu	37	1	220955233	220955233	+	Missense_Mutation	SNP	G	G	A	rs558469899	byFrequency	TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:220955233G>A	ENST00000366913.3	+	7	1196	c.998G>A	c.(997-999)cGg>cAg	p.R333Q	MARC2_ENST00000359316.2_Intron|MARC2_ENST00000472447.1_3'UTR	NM_017898.3	NP_060368.2	Q969Z3	MARC2_HUMAN	mitochondrial amidoxime reducing component 2	333	MOSC. {ECO:0000255|PROSITE- ProRule:PRU00670}.				detoxification of nitrogen compound (GO:0051410)|nitrate metabolic process (GO:0042126)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|nitrate reductase activity (GO:0008940)|pyridoxal phosphate binding (GO:0030170)										CCTGTGTATCGGATGGTGTAG	0.438													G|||	2	0.000399361	0.0	0.0	5008	,	,		17834	0.0		0.0	False		,,,				2504	0.002					uc001hmq.2		NaN																	0					0						c.(997-999)CGG>CAG		MOCO sulphurase C-terminal domain containing 2							190.0	193.0	192.0					1																	220955233		2203	4300	6503	SO:0001583	missense	54996					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding	g.chr1:220955233G>A		CCDS1525.1	1q41	2011-11-02	2011-11-02	2011-11-02	ENSG00000117791	ENSG00000117791			26064	protein-coding gene	gene with protein product		614127	"""MOCO sulphurase C-terminal domain containing 2"""	MOSC2		11886751	Standard	NM_017898		Approved	FLJ20605	uc001hmq.3	Q969Z3	OTTHUMG00000037354	ENST00000366913.3:c.998G>A	1.37:g.220955233G>A	ENSP00000355880:p.Arg333Gln					MOSC2_uc001hmr.2_Missense_Mutation_p.R333Q|MOSC2_uc009xdx.2_Intron	p.R333Q	NM_017898	NP_060368	Q969Z3	MOSC2_HUMAN		GBM - Glioblastoma multiforme(131;0.00499)|all cancers(67;0.204)	7	1196	+			333			MOSC.		B2D0R5|D3DTB3|Q0JSK7|Q5VT67|Q5VXC7|Q7L317|Q9H066|Q9NWU0	Missense_Mutation	SNP	ENST00000366913.3	37	c.998G>A	CCDS1525.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.501069	0.26861	.	.	ENSG00000117791	ENST00000366913	T	0.15372	2.43	5.97	-3.94	0.04130	Molybdenum cofactor sulfurase, C-terminal (1);	0.995015	0.08148	N	0.990498	T	0.09423	0.0232	N	0.22421	0.69	0.09310	N	1	B	0.30211	0.273	B	0.23852	0.049	T	0.32824	-0.9892	10	0.42905	T	0.14	-22.4573	7.732	0.28791	0.6048:0.0:0.2526:0.1426	.	333	Q969Z3	MOSC2_HUMAN	Q	333	ENSP00000355880:R333Q	ENSP00000355880:R333Q	R	+	2	0	MOSC2	219021856	0.002000	0.14202	0.418000	0.26571	0.480000	0.33159	-0.189000	0.09629	-0.526000	0.06383	-0.229000	0.12294	CGG		0.438	MARC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090911.1		NM_017898		11	135	0	0	0	0.020292	0	11	135		
ZNF692	55657	broad.mit.edu	37	1	249144438	249144438	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:249144438G>A	ENST00000306601.4	-	12	1697	c.1531C>T	c.(1531-1533)Cag>Tag	p.Q511*	ZNF692_ENST00000451251.1_Nonsense_Mutation_p.Q516*|ZNF692_ENST00000366471.3_Nonsense_Mutation_p.Q466*|ZNF692_ENST00000366469.5_Nonsense_Mutation_p.Q510*|ZNF692_ENST00000427146.1_Nonsense_Mutation_p.Q466*	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	511					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	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)			GTTGGAGCCTGAGGAGATGCA	0.612																																						uc001ifc.1		NaN																	0					0						c.(1531-1533)CAG>TAG		zinc finger protein 692 isoform 2							58.0	65.0	63.0					1																	249144438		2203	4300	6503	SO:0001587	stop_gained	55657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249144438G>A	BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"""Zinc fingers, C2H2-type"""	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.1531C>T	1.37:g.249144438G>A	ENSP00000305483:p.Gln511*					ZNF692_uc001iez.1_Nonsense_Mutation_p.Q233*|ZNF692_uc001ifa.1_Nonsense_Mutation_p.Q233*|ZNF692_uc001ifb.1_Nonsense_Mutation_p.Q307*|ZNF692_uc001ifd.1_Nonsense_Mutation_p.Q510*|ZNF692_uc001ife.1_RNA|ZNF692_uc001iff.1_Nonsense_Mutation_p.Q466*|ZNF692_uc010pzr.1_Nonsense_Mutation_p.Q516*	p.Q511*	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		12	1698	-	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)	511					B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Nonsense_Mutation	SNP	ENST00000306601.4	37	c.1531C>T	CCDS31127.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.21|18.21	3.574018|3.574018	0.65765|0.65765	.|.	.|.	ENSG00000171163|ENSG00000171163	ENST00000306601;ENST00000427146;ENST00000366470;ENST00000366471;ENST00000366469;ENST00000451251|ENST00000476503	.|.	.|.	.|.	4.18|4.18	-1.08|-1.08	0.09936|0.09936	.|.	2.433110|.	0.01712|.	N|.	0.027765|.	.|T	.|0.18882	.|0.0453	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.23511	.|-1.0186	.|4	0.36615|.	T|.	0.2|.	0.184|0.184	1.0528|1.0528	0.01583|0.01583	0.2616:0.2832:0.3105:0.1447|0.2616:0.2832:0.3105:0.1447	.|.	.|.	.|.	.|.	X|L	511;466;339;466;510;516|264	.|.	ENSP00000305483:Q511X|.	Q|S	-|-	1|2	0|0	ZNF692|ZNF692	247111061|247111061	0.015000|0.015000	0.18098|0.18098	0.000000|0.000000	0.03702|0.03702	0.066000|0.066000	0.16364|0.16364	-0.539000|-0.539000	0.06113|0.06113	-0.182000|-0.182000	0.10602|0.10602	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.612	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097298.1		NM_017865		5	51	0	0	0	0.001984	0	5	51		
CUBN	8029	broad.mit.edu	37	10	16932503	16932503	+	Silent	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:16932503C>G	ENST00000377833.4	-	55	8687	c.8622G>C	c.(8620-8622)gtG>gtC	p.V2874V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2874	CUB 21. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGGCTTTGTCCACCTCCTCAG	0.498																																						uc001ioo.2		NaN																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(8620-8622)GTG>GTC		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						115.0	105.0	108.0					10																	16932503		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16932503C>G	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.8622G>C	10.37:g.16932503C>G						CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Silent_p.V230V	p.V2874V	NM_001081	NP_001072	O60494	CUBN_HUMAN			55	8674	-			2874			CUB 21.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.8622G>C	CCDS7113.1																																																																																				0.498	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1		NM_001081		6	62	0	0	0	0.00308	0	6	62		
CUBN	8029	broad.mit.edu	37	10	17087133	17087133	+	Missense_Mutation	SNP	G	G	C	rs199636722		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:17087133G>C	ENST00000377833.4	-	25	3610	c.3545C>G	c.(3544-3546)cCg>cGg	p.P1182R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1182	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATAGGGCATCGGGTAGTTGGG	0.493																																						uc001ioo.2		NaN																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(3544-3546)CCG>CGG		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						167.0	154.0	158.0					10																	17087133		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17087133G>C	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.3545C>G	10.37:g.17087133G>C	ENSP00000367064:p.Pro1182Arg						p.P1182R	NM_001081	NP_001072	O60494	CUBN_HUMAN			25	3597	-			1182			CUB 7.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.3545C>G	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640260	0.87859	.	.	ENSG00000107611	ENST00000377833	T	0.66099	-0.19	5.8	5.8	0.92144	CUB (5);	0.000000	0.45126	D	0.000385	D	0.88998	0.6590	H	0.99211	4.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93125	0.6528	10	0.87932	D	0	.	19.6644	0.95887	0.0:0.0:1.0:0.0	.	1182	O60494	CUBN_HUMAN	R	1182	ENSP00000367064:P1182R	ENSP00000367064:P1182R	P	-	2	0	CUBN	17127139	1.000000	0.71417	0.988000	0.46212	0.829000	0.46940	8.945000	0.92985	2.758000	0.94735	0.563000	0.77884	CCG		0.493	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1		NM_001081		7	61	0	0	0	0.00308	0	7	61		
NPY4R	5540	broad.mit.edu	37	10	47087272	47087272	+	Silent	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:47087272C>A	ENST00000395716.1	+	2	574	c.489C>A	c.(487-489)atC>atA	p.I163I	NPY4R_ENST00000374312.1_Silent_p.I163I			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	163					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|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)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										TTGTGCTCATCTGGGTCATTG	0.587																																						uc001jee.2		NaN																	0				ovary(1)|skin(1)	2						c.(487-489)ATC>ATA		pancreatic polypeptide receptor 1							230.0	183.0	199.0					10																	47087272		2203	4300	6503	SO:0001819	synonymous_variant	5540				blood circulation|digestion|feeding behavior	integral to plasma membrane		g.chr10:47087272C>A		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.489C>A	10.37:g.47087272C>A						ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Silent_p.I163I	p.I163I	NM_005972	NP_005963	P50391	NPY4R_HUMAN			3	908	+			163			Helical; Name=4; (Potential).		Q13456|Q5ISU3|Q5T2X9|Q6FH06	Silent	SNP	ENST00000395716.1	37	c.489C>A	CCDS31193.1																																																																																				0.587	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1				6	90	1	0	0.00116845	0.001168	0.00123234	6	90		
KCNMA1	3778	broad.mit.edu	37	10	78943241	78943241	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:78943241A>G	ENST00000286628.8	-	5	745	c.746T>C	c.(745-747)gTa>gCa	p.V249A	KCNMA1_ENST00000372440.1_Missense_Mutation_p.V249A|KCNMA1_ENST00000286627.5_Missense_Mutation_p.V249A|KCNMA1_ENST00000354353.5_Missense_Mutation_p.V249A|KCNMA1_ENST00000372443.1_Missense_Mutation_p.V249A|KCNMA1_ENST00000404771.3_Missense_Mutation_p.V249A|KCNMA1_ENST00000404857.1_Missense_Mutation_p.V249A|KCNMA1_ENST00000406533.3_Missense_Mutation_p.V249A	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	249					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	GAAATCCACTACAGAGTTCAC	0.448																																						uc001jxn.2		NaN																	0				pancreas(2)|ovary(1)	3						c.(745-747)GTA>GCA		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)						97.0	85.0	89.0					10																	78943241		2203	4300	6503	SO:0001583	missense	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.chr10:78943241A>G	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.746T>C	10.37:g.78943241A>G	ENSP00000286628:p.Val249Ala					KCNMA1_uc001jxj.2_Missense_Mutation_p.V249A|KCNMA1_uc001jxk.1_5'UTR|KCNMA1_uc009xrt.1_Missense_Mutation_p.V69A|KCNMA1_uc001jxo.2_Missense_Mutation_p.V249A|KCNMA1_uc001jxm.2_Missense_Mutation_p.V249A|KCNMA1_uc001jxq.2_Missense_Mutation_p.V249A	p.V249A	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		5	923	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		249			Helical; Name=Segment S3; (Potential).		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.746T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.7|26.7	4.762365|4.762365	0.89932|0.89932	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372403	T;T;T;T;T;T;D;T;T;T|.	0.98455|.	0.99;0.99;0.99;0.99;0.99;0.99;-4.94;0.99;0.99;0.99|.	5.92|5.92	5.92|5.92	0.95590|0.95590	Ion transport (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.59824|.	0.2222|.	L|L	0.39020|0.39020	1.185|1.185	0.80722|0.80722	D|D	1|1	P;P;P;P;P;P|.	0.45474|.	0.859;0.618;0.564;0.618;0.73;0.618|.	P;P;P;P;P;P|.	0.52343|.	0.669;0.602;0.467;0.696;0.467;0.602|.	T|.	0.55909|.	-0.8066|.	10|.	0.72032|.	D|.	0.01|.	-10.4819|-10.4819	16.3593|16.3593	0.83251|0.83251	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	249;249;249;249;249;249|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;Q5SVJ7|.	.;.;.;KCMA1_HUMAN;.;.|.	A|Q	249;186;184;223;186;249;249;223;249;249;249;31|200	ENSP00000361517:V249A;ENSP00000361485:V186A;ENSP00000361514:V184A;ENSP00000396608:V223A;ENSP00000361520:V249A;ENSP00000286627:V249A;ENSP00000286628:V223A;ENSP00000385552:V249A;ENSP00000346321:V249A;ENSP00000385806:V249A|.	ENSP00000286627:V249A|.	V|X	-|-	2|1	0|0	KCNMA1|KCNMA1	78613247|78613247	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.974000|0.974000	0.67602|0.67602	9.203000|9.203000	0.95033|0.95033	2.267000|2.267000	0.75376|0.75376	0.383000|0.383000	0.25322|0.25322	GTA|TAG		0.448	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3		NM_002247		4	33	0	0	0	0.009096	0	4	33		
HPSE2	60495	broad.mit.edu	37	10	100242424	100242424	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:100242424G>A	ENST00000370552.3	-	11	1641	c.1582C>T	c.(1582-1584)Cag>Tag	p.Q528*	HPSE2_ENST00000370546.1_Nonsense_Mutation_p.Q528*|HPSE2_ENST00000404542.1_Nonsense_Mutation_p.Q416*|HPSE2_ENST00000370549.1_Nonsense_Mutation_p.Q470*	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	528					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CCATAGGGCTGCAGCAGGTAC	0.522																																						uc001kpn.1		NaN																	0				ovary(1)	1						c.(1582-1584)CAG>TAG		heparanase 2							192.0	179.0	183.0					10																	100242424		2203	4300	6503	SO:0001587	stop_gained	60495				carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	g.chr10:100242424G>A	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.1582C>T	10.37:g.100242424G>A	ENSP00000359583:p.Gln528*					HPSE2_uc009xwc.1_Nonsense_Mutation_p.Q518*|HPSE2_uc001kpo.1_Nonsense_Mutation_p.Q460*|HPSE2_uc009xwd.1_Nonsense_Mutation_p.Q406*	p.Q528*	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN		Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)	11	1642	-			528					Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Nonsense_Mutation	SNP	ENST00000370552.3	37	c.1582C>T	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	G	36	5.936843	0.97122	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-10.5082	19.4407	0.94820	0.0:0.0:1.0:0.0	.	.	.	.	X	528;470;528;416	.	ENSP00000359577:Q528X	Q	-	1	0	HPSE2	100232414	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.215000	0.95146	2.677000	0.91161	0.655000	0.94253	CAG		0.522	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1		NM_021828		28	160	0	0	0	0.008361	0	28	160		
C10orf2	56652	broad.mit.edu	37	10	102748960	102748960	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:102748960C>G	ENST00000311916.2	+	1	1178	c.993C>G	c.(991-993)ttC>ttG	p.F331L	MRPL43_ENST00000370242.4_5'Flank|MRPL43_ENST00000299179.5_5'Flank|MRPL43_ENST00000370236.1_5'Flank|MRPL43_ENST00000493646.1_5'Flank|C10orf2_ENST00000370228.1_Missense_Mutation_p.F331L|MRPL43_ENST00000318364.8_5'Flank|MRPL43_ENST00000342071.1_5'Flank|C10orf2_ENST00000473656.1_Intron|MRPL43_ENST00000477279.1_5'Flank|MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000318325.2_5'Flank|MRPL43_ENST00000370234.4_5'Flank	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	331					cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AACGATGCTTCTTGGTGCGAC	0.572																																						uc001ksf.2		NaN																	0				ovary(1)	1						c.(991-993)TTC>TTG		twinkle isoform A							64.0	61.0	62.0					10																	102748960		2203	4300	6503	SO:0001583	missense	56652				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding	g.chr10:102748960C>G	AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"""twinkle"", ""T7 helicase-related protein with intramitochondrial nucleoid localization"""	606075	"""infantile onset spinocerebellar ataxia (autosomal recessive)"""	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.993C>G	10.37:g.102748960C>G	ENSP00000309595:p.Phe331Leu					MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksd.1_5'Flank|MRPL43_uc001ksc.2_5'Flank|MRPL43_uc001kse.2_5'Flank|C10orf2_uc001ksg.2_Missense_Mutation_p.F331L|C10orf2_uc001ksi.2_Intron|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksh.2_Intron	p.F331L	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)	1	1668	+		Colorectal(252;0.122)|all_hematologic(284;0.152)	331					B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Missense_Mutation	SNP	ENST00000311916.2	37	c.993C>G	CCDS7506.1	.	.	.	.	.	.	.	.	.	.	c	5.648	0.304165	0.10678	.	.	ENSG00000107815	ENST00000311916;ENST00000370228	D;D	0.92099	-2.97;-2.97	5.9	-1.39	0.08997	.	0.173639	0.53938	D	0.000058	T	0.74520	0.3727	N	0.10972	0.075	0.22771	N	0.998753	B;B	0.16603	0.018;0.003	B;B	0.11329	0.006;0.005	T	0.61362	-0.7078	10	0.10902	T	0.67	-7.9244	0.6911	0.00891	0.2428:0.3187:0.1193:0.3192	.	331;331	Q96RR1-2;Q96RR1	.;PEO1_HUMAN	L	331	ENSP00000309595:F331L;ENSP00000359248:F331L	ENSP00000309595:F331L	F	+	3	2	C10orf2	102738950	0.012000	0.17670	0.986000	0.45419	0.655000	0.38815	-0.743000	0.04845	-0.195000	0.10382	0.457000	0.33378	TTC		0.572	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049886.1		NM_021830		13	67	0	0	0	0.020292	0	13	67		
HABP2	3026	broad.mit.edu	37	10	115337829	115337829	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:115337829T>A	ENST00000351270.3	+	6	589	c.493T>A	c.(493-495)Tgc>Agc	p.C165S	HABP2_ENST00000541666.1_Missense_Mutation_p.C165S|HABP2_ENST00000542051.1_Missense_Mutation_p.C139S|HABP2_ENST00000537906.1_Silent_p.P153P	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	165	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	TGGGGCTACCTGCTCCCGGCA	0.557																																						uc001lai.3		NaN																	0				ovary(2)|skin(1)	3						c.(493-495)TGC>AGC		hyaluronan binding protein 2 preproprotein							94.0	84.0	88.0					10																	115337829		2203	4300	6503	SO:0001583	missense	3026				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity	g.chr10:115337829T>A		CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"""plasma hyaluronan binding protein"", ""factor VII activating protein"""	603924	"""hyaluronan-binding protein 2"""			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.493T>A	10.37:g.115337829T>A	ENSP00000277903:p.Cys165Ser					HABP2_uc010qrz.1_RNA|HABP2_uc010qry.1_Silent_p.P153P	p.C165S	NM_004132	NP_004123	Q14520	HABP2_HUMAN		Epithelial(162;0.00319)|all cancers(201;0.0112)	6	596	+		Colorectal(252;0.0233)|Breast(234;0.0672)	165			EGF-like 3.		A8K467|B7Z8U5|F5H5M6|O00663	Missense_Mutation	SNP	ENST00000351270.3	37	c.493T>A	CCDS7577.1	.	.	.	.	.	.	.	.	.	.	T	16.82	3.227471	0.58668	.	.	ENSG00000148702	ENST00000542051;ENST00000351270;ENST00000541666	D;D;D	0.99992	-12.4;-12.4;-12.4	5.42	5.42	0.78866	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99994	0.9999	H	0.98178	4.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99988	1.3674	10	0.87932	D	0	.	14.0314	0.64617	0.0:0.0:0.0:1.0	.	165	Q14520	HABP2_HUMAN	S	139;165;165	ENSP00000443283:C139S;ENSP00000277903:C165S;ENSP00000438373:C165S	ENSP00000277903:C165S	C	+	1	0	HABP2	115327819	1.000000	0.71417	0.741000	0.31004	0.093000	0.18481	6.099000	0.71466	2.062000	0.61559	0.460000	0.39030	TGC		0.557	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1		NM_004132		10	68	0	0	0	0.006214	0	10	68		
GPR123	84435	broad.mit.edu	37	10	134912196	134912196	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:134912196C>T	ENST00000392607.3	+	4	620	c.184C>T	c.(184-186)Cac>Tac	p.H62Y	GPR123_ENST00000607359.1_Missense_Mutation_p.H782Y	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	62					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TTTCTGCTTCCACGCGGCCCT	0.652																																						uc001llx.3		NaN																	0					0						c.(184-186)CAC>TAC		G protein-coupled receptor 123							81.0	74.0	76.0					10																	134912196		2203	4300	6503	SO:0001583	missense	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134912196C>T	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.184C>T	10.37:g.134912196C>T	ENSP00000376384:p.His62Tyr					GPR123_uc001llw.2_Missense_Mutation_p.H782Y	p.H62Y	NM_001083909	NP_001077378	Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	4	620	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	62			Helical; Name=2; (Potential).		A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000392607.3	37	c.184C>T	CCDS41580.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942282	0.92526	.	.	ENSG00000197177	ENST00000368577;ENST00000392609;ENST00000392607	T	0.38240	1.15	4.35	4.35	0.52113	GPCR, family 2-like (1);	0.332405	0.24506	N	0.037928	T	0.60805	0.2297	M	0.81341	2.54	0.80722	D	1	P;D	0.69078	0.723;0.997	P;D	0.69479	0.781;0.964	T	0.67688	-0.5606	10	0.87932	D	0	-37.6161	14.7362	0.69416	0.0:1.0:0.0:0.0	.	62;782	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	Y	782;782;62	ENSP00000376384:H62Y	ENSP00000357566:H782Y	H	+	1	0	GPR123	134762186	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	4.066000	0.57520	2.143000	0.66587	0.655000	0.94253	CAC		0.652	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2				9	61	0	0	0	0.004482	0	9	61		
ZNF214	7761	broad.mit.edu	37	11	7021340	7021340	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:7021340G>A	ENST00000278314.4	-	3	1889	c.1574C>T	c.(1573-1575)cCc>cTc	p.P525L	ZNF214_ENST00000531083.1_5'Flank|ZNF214_ENST00000536068.1_Missense_Mutation_p.P525L	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	525					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		ACATTTATAGGGCTTTTCTCC	0.423																																					Ovarian(22;251 657 736 21522 46864)	uc001mfa.2		NaN																	0				skin(1)	1						c.(1573-1575)CCC>CTC		zinc finger protein 214							118.0	120.0	119.0					11																	7021340		2201	4295	6496	SO:0001583	missense	7761				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:7021340G>A	AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"""Zinc fingers, C2H2-type"", ""-"""	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.1574C>T	11.37:g.7021340G>A	ENSP00000278314:p.Pro525Leu					ZNF214_uc010ray.1_Missense_Mutation_p.P525L|ZNF214_uc009yfh.1_Missense_Mutation_p.P525L	p.P525L	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN		Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)	3	1877	-			525					B2R8Q1	Missense_Mutation	SNP	ENST00000278314.4	37	c.1574C>T	CCDS31418.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776269	0.70107	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.17054	2.3;2.3	4.05	4.05	0.47172	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44483	D	0.000450	T	0.39145	0.1067	M	0.66378	2.025	0.49389	D	0.999788	D	0.89917	1.0	D	0.76575	0.988	T	0.22977	-1.0201	10	0.72032	D	0.01	.	14.5016	0.67724	0.0:0.0:1.0:0.0	.	525	Q9UL59	ZN214_HUMAN	L	525	ENSP00000278314:P525L;ENSP00000445373:P525L	ENSP00000278314:P525L	P	-	2	0	ZNF214	6977916	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	5.049000	0.64244	2.536000	0.85505	0.561000	0.74099	CCC		0.423	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1				8	67	0	0	0	0.00308	0	8	67		
TMEM41B	440026	broad.mit.edu	37	11	9305135	9305135	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:9305135C>T	ENST00000528080.1	-	7	1050	c.712G>A	c.(712-714)Gca>Aca	p.A238T	TMEM41B_ENST00000527813.1_Silent_p.S191S	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	238					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)		p.A238T(1)		kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		GAAGGAGGTGCGACACCTGAA	0.333																																						uc001mhm.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(712-714)GCA>ACA		transmembrane protein 41B isoform 1							48.0	46.0	46.0					11																	9305135		2201	4296	6497	SO:0001583	missense	440026					integral to membrane		g.chr11:9305135C>T	D26067	CCDS31424.1, CCDS53600.1	11p15.3	2008-02-05			ENSG00000166471	ENSG00000166471			28948	protein-coding gene	gene with protein product						7584026, 7584028	Standard	NM_015012		Approved	KIAA0033	uc001mhn.2	Q5BJD5	OTTHUMG00000165719	ENST00000528080.1:c.712G>A	11.37:g.9305135C>T	ENSP00000433126:p.Ala238Thr					TMEM41B_uc001mhn.1_Missense_Mutation_p.A238T	p.A238T	NM_015012	NP_055827	Q5BJD5	TM41B_HUMAN		all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)	7	1020	-			238			Helical; (Potential).		D3DQU9|E9PP29|Q15055|Q4G0P0	Missense_Mutation	SNP	ENST00000528080.1	37	c.712G>A	CCDS31424.1	.	.	.	.	.	.	.	.	.	.	C	34	5.391767	0.95988	.	.	ENSG00000166471	ENST00000299596;ENST00000528080	T;T	0.58652	0.32;0.32	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.77994	0.4214	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.74112	-0.3770	10	0.22706	T	0.39	-2.6072	19.7302	0.96179	0.0:1.0:0.0:0.0	.	238	Q5BJD5	TM41B_HUMAN	T	238	ENSP00000299596:A238T;ENSP00000433126:A238T	ENSP00000299596:A238T	A	-	1	0	TMEM41B	9261711	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.818000	0.86416	2.655000	0.90218	0.655000	0.94253	GCA		0.333	TMEM41B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385940.2				6	29	0	0	0	0.001984	0	6	29		
OR5AS1	219447	broad.mit.edu	37	11	55798793	55798793	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:55798793C>T	ENST00000313555.1	+	1	899	c.899C>T	c.(898-900)gCt>gTt	p.A300V		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GTGAAAAATGCTCTCAAAAAG	0.308																																						uc010riw.1		NaN																	0				ovary(3)|liver(1)|skin(1)	5						c.(898-900)GCT>GTT		olfactory receptor, family 5, subfamily AS,							47.0	52.0	50.0					11																	55798793		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798793C>T	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.899C>T	11.37:g.55798793C>T	ENSP00000324111:p.Ala300Val						p.A300V	NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN			1	899	+	Esophageal squamous(21;0.00693)		300			Cytoplasmic (Potential).		Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.899C>T	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	C	3.932	-0.015994	0.07681	.	.	ENSG00000181785	ENST00000313555	T	0.44881	0.91	4.76	3.85	0.44370	.	0.272291	0.19550	U	0.111582	T	0.35537	0.0935	L	0.43923	1.385	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.34428	-0.9829	10	0.87932	D	0	.	10.7098	0.45977	0.0:0.9044:0.0:0.0956	.	300	Q8N127	O5AS1_HUMAN	V	300	ENSP00000324111:A300V	ENSP00000324111:A300V	A	+	2	0	OR5AS1	55555369	0.000000	0.05858	0.100000	0.21137	0.065000	0.16274	0.364000	0.20325	0.996000	0.38943	-0.245000	0.11935	GCT		0.308	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1		NM_001001921		8	32	0	0	0	0.00308	0	8	32		
OR8K5	219453	broad.mit.edu	37	11	55927583	55927583	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:55927583G>C	ENST00000313447.1	-	1	210	c.211C>G	c.(211-213)Ctt>Gtt	p.L71V		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)				GAATTACCAAGATCAACAAAA	0.403																																						uc010rja.1		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(211-213)CTT>GTT		olfactory receptor, family 8, subfamily K,							109.0	108.0	108.0					11																	55927583		2201	4296	6497	SO:0001583	missense	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55927583G>C	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.211C>G	11.37:g.55927583G>C	ENSP00000323853:p.Leu71Val						p.L71V	NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN			1	211	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	71			Helical; Name=2; (Potential).		Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	c.211C>G	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.185964	0.38609	.	.	ENSG00000181752	ENST00000313447	T	0.03468	3.92	3.87	1.75	0.24633	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.09949	0.0244	L	0.44542	1.39	0.22918	N	0.998568	D	0.89917	1.0	D	0.83275	0.996	T	0.21177	-1.0253	9	0.48119	T	0.1	.	7.3244	0.26547	0.0967:0.0:0.7367:0.1666	.	71	Q8NH50	OR8K5_HUMAN	V	71	ENSP00000323853:L71V	ENSP00000323853:L71V	L	-	1	0	OR8K5	55684159	0.000000	0.05858	0.993000	0.49108	0.607000	0.37147	-0.710000	0.05024	0.960000	0.38005	0.560000	0.71715	CTT		0.403	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1		NM_001004058		12	115	0	0	0	0.010729	0	12	115		
P2RX3	5024	broad.mit.edu	37	11	57135555	57135555	+	Silent	SNP	C	C	T	rs150261482		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:57135555C>T	ENST00000263314.2	+	9	949	c.915C>T	c.(913-915)ttC>ttT	p.F305F		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	305					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						GCATCCGCTTCGACGTGCTGG	0.567																																						uc001nju.2		NaN																	0					0						c.(913-915)TTC>TTT		purinergic receptor P2X3		C		2,4400	4.2+/-10.8	0,2,2199	87.0	82.0	84.0		915	-4.0	1.0	11	dbSNP_134	84	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	P2RX3	NM_002559.3		0,3,6494	TT,TC,CC		0.0116,0.0454,0.0231		305/398	57135555	3,12991	2201	4296	6497	SO:0001819	synonymous_variant	5024				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr11:57135555C>T	Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.915C>T	11.37:g.57135555C>T							p.F305F	NM_002559	NP_002550	P56373	P2RX3_HUMAN			9	991	+			305			Extracellular (Potential).		Q6DK37|Q9UQB6	Silent	SNP	ENST00000263314.2	37	c.915C>T	CCDS7953.1																																																																																				0.567	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1		NM_002559		4	44	0	0	0	0.014758	0	4	44		
AHNAK	79026	broad.mit.edu	37	11	62288917	62288917	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:62288917G>A	ENST00000378024.4	-	5	13246	c.12972C>T	c.(12970-12972)ttC>ttT	p.F4324F	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4324					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)			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)				CTGGCATGCTGAATTTGGGCA	0.517																																						uc001ntl.2		NaN																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(12970-12972)TTC>TTT		AHNAK nucleoprotein isoform 1							172.0	169.0	170.0					11																	62288917		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62288917G>A	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.12972C>T	11.37:g.62288917G>A						AHNAK_uc001ntk.1_Intron	p.F4324F	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	13272	-		Melanoma(852;0.155)	4324					A1A586	Silent	SNP	ENST00000378024.4	37	c.12972C>T	CCDS31584.1																																																																																				0.517	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1		NM_024060		7	222	0	0	0	0.001984	0	7	222		
AHNAK	79026	broad.mit.edu	37	11	62289517	62289517	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:62289517G>A	ENST00000378024.4	-	5	12646	c.12372C>T	c.(12370-12372)ctC>ctT	p.L4124L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4124					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)			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)				TCGGTGCCTTGAGGTGCAGGT	0.493																																						uc001ntl.2		NaN																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(12370-12372)CTC>CTT		AHNAK nucleoprotein isoform 1							110.0	114.0	113.0					11																	62289517		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62289517G>A	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.12372C>T	11.37:g.62289517G>A						AHNAK_uc001ntk.1_Intron	p.L4124L	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	12672	-		Melanoma(852;0.155)	4124					A1A586	Silent	SNP	ENST00000378024.4	37	c.12372C>T	CCDS31584.1																																																																																				0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1		NM_024060		6	141	0	0	0	0.001168	0	6	141		
AHNAK	79026	broad.mit.edu	37	11	62290726	62290726	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:62290726G>C	ENST00000378024.4	-	5	11437	c.11163C>G	c.(11161-11163)atC>atG	p.I3721M	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3721					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)			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)				CTGAGCCTTCGATGTTAATGT	0.458																																						uc001ntl.2		NaN																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(11161-11163)ATC>ATG		AHNAK nucleoprotein isoform 1							132.0	139.0	137.0					11																	62290726		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62290726G>C	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.11163C>G	11.37:g.62290726G>C	ENSP00000367263:p.Ile3721Met					AHNAK_uc001ntk.1_Intron	p.I3721M	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	11463	-		Melanoma(852;0.155)	3721					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.11163C>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	9.118	1.008182	0.19199	.	.	ENSG00000124942	ENST00000378024	T	0.01527	4.8	5.32	-9.84	0.00479	.	0.234366	0.22449	N	0.059914	T	0.02571	0.0078	M	0.92219	3.285	0.09310	N	0.999991	B	0.31193	0.312	B	0.32211	0.142	T	0.19549	-1.0302	10	0.48119	T	0.1	.	1.9756	0.03415	0.2197:0.1656:0.3613:0.2535	.	3721	Q09666	AHNK_HUMAN	M	3721	ENSP00000367263:I3721M	ENSP00000367263:I3721M	I	-	3	3	AHNAK	62047302	0.000000	0.05858	0.045000	0.18777	0.066000	0.16364	-2.668000	0.00845	-1.445000	0.01948	-1.120000	0.02017	ATC		0.458	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1		NM_024060		9	153	0	0	0	0.006214	0	9	153		
RARRES3	5920	broad.mit.edu	37	11	63312303	63312303	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:63312303G>T	ENST00000255688.3	+	3	377	c.329G>T	c.(328-330)aGc>aTc	p.S110I	RARRES3_ENST00000439013.2_Missense_Mutation_p.S110I|RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000354445.2_Missense_Mutation_p.S110I	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	110					lipid catabolic process (GO:0016042)|negative regulation of cell proliferation (GO:0008285)|phospholipid metabolic process (GO:0006644)	integral component of membrane (GO:0016021)	phospholipase A2 activity (GO:0004623)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						AGTATTGTGAGCAGGAACTGT	0.512																																						uc001nxf.3		NaN																	0				ovary(1)	1						c.(328-330)AGC>ATC		retinoic acid receptor responder (tazarotene							164.0	167.0	166.0					11																	63312303		2064	4208	6272	SO:0001583	missense	5920				lipid catabolic process|negative regulation of cell proliferation		hydrolase activity	g.chr11:63312303G>T		CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321			9869	protein-coding gene	gene with protein product		605092				9270552	Standard	NM_004585		Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000255688.3:c.329G>T	11.37:g.63312303G>T	ENSP00000255688:p.Ser110Ile						p.S110I	NM_004585	NP_004576	Q9UL19	TIG3_HUMAN			3	397	+			110					B2R599|B4DDW2|E7ENZ7|O95200	Missense_Mutation	SNP	ENST00000255688.3	37	c.329G>T	CCDS41662.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867905	0.51588	.	.	ENSG00000133321	ENST00000439013;ENST00000255688;ENST00000354445	T;T;T	0.23754	1.89;1.89;1.89	4.19	-8.1	0.01086	NC (1);	1.167870	0.06362	N	0.712017	T	0.34424	0.0897	M	0.68952	2.095	0.09310	N	1	D	0.63880	0.993	D	0.66602	0.945	T	0.46456	-0.9190	10	0.52906	T	0.07	.	0.3735	0.00383	0.3106:0.2049:0.2732:0.2113	.	110	Q9UL19	TIG3_HUMAN	I	110	ENSP00000402943:S110I;ENSP00000255688:S110I;ENSP00000346431:S110I	ENSP00000255688:S110I	S	+	2	0	RARRES3	63068879	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.847000	0.04331	-1.660000	0.01486	-0.211000	0.12701	AGC		0.512	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396629.1				9	132	1	0	0.000442599	0.006214	0.00047048	9	132		
PACS1	55690	broad.mit.edu	37	11	65977851	65977851	+	Missense_Mutation	SNP	C	C	T	rs538219005		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:65977851C>T	ENST00000320580.4	+	3	496	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	155					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						AAGAATTCTTCGCTCCAACGA	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		21083	0.0		0.0	False		,,,				2504	0.001					uc001oha.1		NaN																	0				ovary(6)	6						c.(463-465)CGC>TGC		phosphofurin acidic cluster sorting protein 1							133.0	118.0	123.0					11																	65977851		2201	4295	6496	SO:0001583	missense	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:65977851C>T	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.463C>T	11.37:g.65977851C>T	ENSP00000316454:p.Arg155Cys					PACS1_uc001ogz.1_Missense_Mutation_p.R155C	p.R155C	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN			3	597	+			155					Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	c.463C>T	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.009150	0.75046	.	.	ENSG00000175115	ENST00000320580;ENST00000533756;ENST00000527380	T	0.75477	-0.94	5.28	4.36	0.52297	.	0.058354	0.64402	D	0.000001	D	0.87200	0.6118	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.76071	0.719;0.987	D	0.89040	0.3448	10	0.87932	D	0	-20.2897	12.5719	0.56341	0.3011:0.6988:0.0:0.0	.	155;155	Q6VY07;Q6VY07-2	PACS1_HUMAN;.	C	155;52;57	ENSP00000316454:R155C	ENSP00000316454:R155C	R	+	1	0	PACS1	65734427	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.983000	0.29552	1.196000	0.43129	0.585000	0.79938	CGC		0.498	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2		NM_018026		14	56	0	0	0	0.020292	0	14	56		
SUV420H1	51111	broad.mit.edu	37	11	67926270	67926270	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:67926270T>C	ENST00000304363.4	-	11	1896	c.1543A>G	c.(1543-1545)Aga>Gga	p.R515G		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	515					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CTGTGTTCTCTCGCCGCGTGT	0.522																																						uc001onm.1		NaN																	0				ovary(2)|kidney(1)	3						c.(1543-1545)AGA>GGA		suppressor of variegation 4-20 homolog 1 isoform							68.0	74.0	72.0					11																	67926270		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67926270T>C	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.1543A>G	11.37:g.67926270T>C	ENSP00000305899:p.Arg515Gly					SUV420H1_uc009yse.1_Missense_Mutation_p.R101G|SUV420H1_uc001onn.1_Missense_Mutation_p.R343G|SUV420H1_uc009ysf.2_Missense_Mutation_p.R275G	p.R515G	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN			11	1799	-			515					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.1543A>G	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	T	12.23	1.877034	0.33162	.	.	ENSG00000110066	ENST00000304363	T	0.54071	0.59	5.2	-0.111	0.13576	.	0.096519	0.64402	D	0.000001	T	0.55130	0.1901	L	0.29908	0.895	0.45330	D	0.998323	D	0.63880	0.993	D	0.72338	0.977	T	0.53892	-0.8374	10	0.62326	D	0.03	-27.8489	10.2636	0.43441	0.0946:0.0:0.4268:0.4787	.	515	Q4FZB7	SV421_HUMAN	G	515	ENSP00000305899:R515G	ENSP00000305899:R515G	R	-	1	2	SUV420H1	67682846	0.759000	0.28416	0.208000	0.23602	0.007000	0.05969	1.017000	0.29989	0.089000	0.17243	-0.468000	0.05107	AGA		0.522	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1		NM_017635		4	59	0	0	0	0.009096	0	4	59		
USP35	57558	broad.mit.edu	37	11	77911809	77911809	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:77911809C>T	ENST00000529308.1	+	6	1413	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Silent_p.F115F|USP35_ENST00000441408.2_5'UTR|USP35_ENST00000530267.1_Intron	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	384					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TGTTCCGGTTCCCGGGCTTCC	0.622																																						uc009yva.1		NaN																	0				lung(2)|ovary(1)	3						c.(1150-1152)TTC>TTT		ubiquitin specific protease 35							75.0	80.0	78.0					11																	77911809		1937	4122	6059	SO:0001819	synonymous_variant	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77911809C>T	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1152C>T	11.37:g.77911809C>T						USP35_uc001oze.2_Silent_p.F140F|USP35_uc001ozc.2_Intron|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_5'UTR|USP35_uc001ozf.2_Silent_p.F115F	p.F384F	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		6	1398	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		384						Silent	SNP	ENST00000529308.1	37	c.1152C>T	CCDS41693.1																																																																																				0.622	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1		XM_290527		4	34	0	0	0	0.001984	0	4	34		
CARD17	440068	broad.mit.edu	37	11	104971361	104971361	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:104971361C>T	ENST00000375707.1	-	2	169	c.153G>A	c.(151-153)atG>atA	p.M51I	CARD16_ENST00000525374.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000593315.1_Intron	NM_001007232.1	NP_001007233.1	Q5XLA6	CAR17_HUMAN	caspase recruitment domain family, member 17	51	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						GGGCCTTATCCATAACTGTAG	0.443																																						uc001pir.1		NaN																	0				ovary(1)	1						c.(151-153)ATG>ATA		caspase recruitment domain family, member 17							173.0	163.0	167.0					11																	104971361		2202	4299	6501	SO:0001583	missense	440068				proteolysis|regulation of apoptosis	cytoplasm	cysteine-type endopeptidase activity|cysteine-type endopeptidase inhibitor activity	g.chr11:104971361C>T		CCDS31662.1	11q22.3	2009-01-13				ENSG00000255221			33827	protein-coding gene	gene with protein product	"""Inhibitory CARD"""	609490				15383541	Standard	NM_001007232		Approved	INCA	uc001pir.1	Q5XLA6		ENST00000375707.1:c.153G>A	11.37:g.104971361C>T	ENSP00000364859:p.Met51Ile					CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron	p.M51I	NM_001007232	NP_001007233	Q5XLA6	CAR17_HUMAN			2	170	-			51			CARD.			Missense_Mutation	SNP	ENST00000375707.1	37	c.153G>A	CCDS31662.1	.	.	.	.	.	.	.	.	.	.	.	12.73	2.026062	0.35701	.	.	ENSG00000255221	ENST00000375707	T	0.20738	2.05	2.92	1.97	0.26223	DEATH-like (2);Caspase Recruitment (3);	.	.	.	.	T	0.36826	0.0981	M	0.79805	2.47	0.09310	N	1	P	0.47604	0.898	P	0.53722	0.733	T	0.11567	-1.0582	9	0.51188	T	0.08	.	7.8073	0.29211	0.0:0.7409:0.2591:0.0	.	51	Q5XLA6	CAR17_HUMAN	I	51	ENSP00000364859:M51I	ENSP00000364859:M51I	M	-	3	0	CARD17	104476571	0.010000	0.17322	0.022000	0.16811	0.059000	0.15707	0.736000	0.26130	0.516000	0.28340	0.511000	0.50034	ATG		0.443	CARD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388181.1		NM_001007232		16	84	0	0	0	0.004007	0	16	84		
FOXRED1	55572	broad.mit.edu	37	11	126147526	126147526	+	Missense_Mutation	SNP	C	C	T	rs142489681		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:126147526C>T	ENST00000263578.5	+	11	1477	c.1403C>T	c.(1402-1404)cCc>cTc	p.P468L	FOXRED1_ENST00000534011.1_3'UTR|FOXRED1_ENST00000442061.2_Missense_Mutation_p.P298L|FOXRED1_ENST00000532125.1_Missense_Mutation_p.P454L	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	468						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		GACCTGAGCCCCTTCCTCTTT	0.572																																						uc001qdi.2		NaN																	0					0						c.(1402-1404)CCC>CTC		FAD-dependent oxidoreductase domain containing		C	LEU/PRO	0,4402		0,0,2201	119.0	101.0	107.0		1403	3.6	1.0	11	dbSNP_134	107	1,8595	1.2+/-3.3	0,1,4297	no	missense	FOXRED1	NM_017547.3	98	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	benign	468/487	126147526	1,12997	2201	4298	6499	SO:0001583	missense	55572					integral to membrane|mitochondrion	oxidoreductase activity|protein binding	g.chr11:126147526C>T		CCDS8471.1	11q24.2	2006-02-03			ENSG00000110074	ENSG00000110074			26927	protein-coding gene	gene with protein product		613622				10497265	Standard	NM_017547		Approved	H17	uc001qdi.3	Q96CU9	OTTHUMG00000165827	ENST00000263578.5:c.1403C>T	11.37:g.126147526C>T	ENSP00000263578:p.Pro468Leu					FOXRED1_uc010sbn.1_Missense_Mutation_p.P298L|FOXRED1_uc010sbo.1_RNA|FOXRED1_uc010sbp.1_Missense_Mutation_p.P281L|FOXRED1_uc010sbq.1_Missense_Mutation_p.P335L|FOXRED1_uc001qdj.2_Missense_Mutation_p.P257L|FOXRED1_uc010sbr.1_Missense_Mutation_p.P454L|FOXRED1_uc001qdk.2_Missense_Mutation_p.P257L	p.P468L	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)	11	1450	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)	468					B3KN84|B4DHU2|Q71MG0|Q9BU39|Q9UKY9	Missense_Mutation	SNP	ENST00000263578.5	37	c.1403C>T	CCDS8471.1	.	.	.	.	.	.	.	.	.	.	C	9.718	1.158872	0.21454	0.0	1.16E-4	ENSG00000110074	ENST00000263578;ENST00000442061;ENST00000532125	D;D;D	0.85339	-1.97;-1.97;-1.97	5.55	3.63	0.41609	.	0.748629	0.13470	N	0.385489	T	0.82167	0.4978	M	0.74647	2.275	0.34496	D	0.705526	B;P;B	0.40144	0.257;0.704;0.046	B;B;B	0.33521	0.098;0.165;0.028	D	0.84511	0.0622	10	0.38643	T	0.18	-3.9945	10.6406	0.45590	0.0:0.7936:0.1319:0.0745	.	454;335;468	Q96CU9-3;B4DI59;Q96CU9	.;.;FXRD1_HUMAN	L	468;298;454	ENSP00000263578:P468L;ENSP00000404371:P298L;ENSP00000434178:P454L	ENSP00000263578:P468L	P	+	2	0	FOXRED1	125652736	0.006000	0.16342	0.966000	0.40874	0.184000	0.23303	0.685000	0.25378	1.313000	0.45069	0.467000	0.42956	CCC		0.572	FOXRED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386434.1		NM_017547		4	40	0	0	0	0.014758	0	4	40		
OPCML	4978	broad.mit.edu	37	11	132306105	132306105	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:132306105C>T	ENST00000331898.7	-	6	1390	c.812G>A	c.(811-813)aGg>aAg	p.R271K	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000374778.4_Missense_Mutation_p.R230K|OPCML_ENST00000541867.1_Missense_Mutation_p.R271K|OPCML_ENST00000524381.1_Missense_Mutation_p.R264K	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	271	Ig-like C2-type 3.				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)	p.R271M(1)		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)		GTTTTCAATCCTCATTCCATC	0.448																																						uc001qgs.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|skin(1)	3						c.(811-813)AGG>AAG		opioid binding protein/cell adhesion							154.0	141.0	145.0					11																	132306105		2201	4297	6498	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132306105C>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.812G>A	11.37:g.132306105C>T	ENSP00000330862:p.Arg271Lys					OPCML_uc001qgu.2_Missense_Mutation_p.R264K|OPCML_uc010sck.1_Missense_Mutation_p.R271K|OPCML_uc001qgt.2_Missense_Mutation_p.R270K|OPCML_uc010scl.1_Missense_Mutation_p.R230K	p.R271K	NM_002545	NP_002536	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	6	862	-	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)	271			Ig-like C2-type 3.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.812G>A	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	C	6.170	0.399590	0.11696	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.91	4.99	0.66335	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.091270	0.85682	N	0.000000	T	0.37320	0.0999	N	0.05280	-0.08	0.37390	D	0.912398	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.11329	0.002;0.006;0.006;0.006	T	0.38542	-0.9656	10	0.02654	T	1	-19.6951	14.6617	0.68876	0.0:0.9297:0.0:0.0703	.	271;264;270;271	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	K	271;264;230;238;271	ENSP00000330862:R271K;ENSP00000434750:R264K;ENSP00000363910:R230K;ENSP00000445496:R271K	ENSP00000330862:R271K	R	-	2	0	OPCML	131811315	1.000000	0.71417	0.993000	0.49108	0.794000	0.44872	3.504000	0.53347	1.502000	0.48669	0.650000	0.86243	AGG		0.448	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3		NM_001012393		4	109	0	0	0	0.009096	0	4	109		
NCAPD3	23310	broad.mit.edu	37	11	134029834	134029834	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:134029834C>G	ENST00000534548.2	-	29	3884	c.3820G>C	c.(3820-3822)Gat>Cat	p.D1274H		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1274					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CCGGCCACATCTGCATGTTTT	0.562																																						uc001qhd.1		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5						c.(3820-3822)GAT>CAT		non-SMC condensin II complex, subunit D3							131.0	100.0	111.0					11																	134029834		2201	4297	6498	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134029834C>G	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.3820G>C	11.37:g.134029834C>G	ENSP00000433681:p.Asp1274His					NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA|NCAPD3_uc001qhc.1_Missense_Mutation_p.D224H	p.D1274H	NM_015261	NP_056076	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	29	4426	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1274			Potential.		A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.3820G>C	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.929705	0.34096	.	.	ENSG00000151503	ENST00000534548;ENST00000527944	T	0.23147	1.92	5.18	1.72	0.24424	.	1.297260	0.04937	N	0.457980	T	0.17704	0.0425	L	0.36672	1.1	0.09310	N	0.999993	P;P	0.41748	0.761;0.641	B;B	0.32393	0.145;0.143	T	0.24297	-1.0164	10	0.46703	T	0.11	-1.5411	5.5352	0.17007	0.0:0.6003:0.0:0.3997	.	1274;334	P42695;Q96FA6	CNDD3_HUMAN;.	H	1274;179	ENSP00000433681:D1274H	ENSP00000432532:D179H	D	-	1	0	NCAPD3	133535044	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	0.511000	0.22739	0.647000	0.30713	0.655000	0.94253	GAT		0.562	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2		NM_015261		5	23	0	0	0	0.014758	0	5	23		
VWF	7450	broad.mit.edu	37	12	6085359	6085359	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:6085359G>C	ENST00000261405.5	-	43	7609	c.7355C>G	c.(7354-7356)aCc>aGc	p.T2452S		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2452	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GTCGGTGCAGGTGCACACATC	0.607																																						uc001qnn.1		NaN																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(7354-7356)ACC>AGC		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						92.0	76.0	81.0					12																	6085359		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6085359G>C		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7355C>G	12.37:g.6085359G>C	ENSP00000261405:p.Thr2452Ser					VWF_uc010set.1_Intron	p.T2452S	NM_000552	NP_000543	P04275	VWF_HUMAN			43	7605	-			2452			VWFC 2.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.7355C>G	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687468	0.48097	.	.	ENSG00000110799	ENST00000261405	T	0.72725	-0.68	5.19	5.19	0.71726	von Willebrand factor, type C (4);	0.000000	0.40728	N	0.001037	T	0.54303	0.1850	N	0.17379	0.485	0.80722	D	1	P	0.39094	0.659	B	0.36567	0.228	T	0.54497	-0.8285	10	0.20519	T	0.43	.	15.8551	0.78972	0.0:0.0:1.0:0.0	.	2452	P04275	VWF_HUMAN	S	2452	ENSP00000261405:T2452S	ENSP00000261405:T2452S	T	-	2	0	VWF	5955620	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.004000	0.40854	2.412000	0.81896	0.591000	0.81541	ACC		0.607	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1		NM_000552		4	89	0	0	0	0.009096	0	4	89		
CD9	928	broad.mit.edu	37	12	6344475	6344475	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:6344475G>A	ENST00000382518.1	+	6	865	c.429G>A	c.(427-429)ctG>ctA	p.L143L	Y_RNA_ENST00000365448.1_RNA|CD9_ENST00000009180.4_Silent_p.L143L|CD9_ENST00000481267.1_3'UTR|CD9_ENST00000382515.2_Silent_p.L74L			P21926	CD9_HUMAN	CD9 molecule	143					blood coagulation (GO:0007596)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|oligodendrocyte development (GO:0014003)|paranodal junction assembly (GO:0030913)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|response to water deprivation (GO:0009414)|single fertilization (GO:0007338)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|vesicle (GO:0031982)				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						GGGAAACGCTGAAAGCCATCC	0.532																																						uc001qnp.1		NaN																	0				ovary(1)	1						c.(427-429)CTG>CTA		CD9 antigen							131.0	118.0	122.0					12																	6344475		2203	4300	6503	SO:0001819	synonymous_variant	928				cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation	integral to plasma membrane|platelet alpha granule membrane		g.chr12:6344475G>A	M38690	CCDS8540.1	12p13	2013-02-14	2006-03-28		ENSG00000010278	ENSG00000010278		"""CD molecules"", ""Tetraspanins"""	1709	protein-coding gene	gene with protein product	"""motility related protein-1"""	143030	"""CD9 antigen (p24)"""	MIC3		6198179	Standard	NM_001769		Approved	BA2, P24, TSPAN29, MRP-1	uc001qnq.2	P21926	OTTHUMG00000044400	ENST00000382518.1:c.429G>A	12.37:g.6344475G>A						CD9_uc010sev.1_Silent_p.L143L|CD9_uc001qnq.1_Silent_p.L143L	p.L143L	NM_001769	NP_001760	P21926	CD9_HUMAN			6	873	+			143			Extracellular (Potential).		D3DUQ9|Q5J7W6|Q96ES4	Silent	SNP	ENST00000382518.1	37	c.429G>A	CCDS8540.1																																																																																				0.532	CD9-004	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103348.1				4	64	0	0	0	0.009096	0	4	64		
PDZRN4	29951	broad.mit.edu	37	12	41966808	41966808	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:41966808G>C	ENST00000402685.2	+	10	2235	c.2227G>C	c.(2227-2229)Gag>Cag	p.E743Q	PDZRN4_ENST00000298919.7_Missense_Mutation_p.E483Q|PDZRN4_ENST00000539469.2_Missense_Mutation_p.E485Q	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	743							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E485K(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CAACACAGCTGAGAGCTGCAG	0.458																																						uc010skn.1		NaN																	1	Substitution - Missense(1)		large_intestine(1)	lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11						c.(1630-1632)GAG>CAG		PDZ domain containing RING finger 4 isoform 2							107.0	105.0	106.0					12																	41966808		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966808G>C	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2227G>C	12.37:g.41966808G>C	ENSP00000384197:p.Glu743Gln					PDZRN4_uc001rmq.3_Missense_Mutation_p.E485Q|PDZRN4_uc009zjz.2_Missense_Mutation_p.E483Q|PDZRN4_uc001rmr.2_Missense_Mutation_p.E370Q	p.E544Q	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN			10	1698	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	743					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1630G>C	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357197	0.82243	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	D;T;T	0.83506	-1.73;2.81;2.79	4.99	4.99	0.66335	.	0.081432	0.50627	D	0.000102	D	0.92388	0.7584	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.996;0.976	D	0.92739	0.6206	10	0.54805	T	0.06	-32.5336	19.1701	0.93574	0.0:0.0:1.0:0.0	.	743;483;485	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	Q	743;485;483	ENSP00000384197:E743Q;ENSP00000439990:E485Q;ENSP00000298919:E483Q	ENSP00000298919:E483Q	E	+	1	0	PDZRN4	40253075	1.000000	0.71417	0.914000	0.36105	0.978000	0.69477	9.813000	0.99286	2.706000	0.92434	0.650000	0.86243	GAG		0.458	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1		NM_013377		9	60	0	0	0	0.006214	0	9	60		
STAC3	246329	broad.mit.edu	37	12	57638099	57638099	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:57638099C>T	ENST00000332782.2	-	10	1058	c.857G>A	c.(856-858)cGg>cAg	p.R286Q	STAC3_ENST00000554578.1_Splice_Site_p.R247Q|STAC3_ENST00000546246.2_Splice_Site_p.R100Q	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	286	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)|neuromuscular synaptic transmission (GO:0007274)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)		identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						TTCTCTCACCCGCCACCATTC	0.552											OREG0021942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001snp.2		NaN																	0				ovary(2)|skin(1)	3						c.(856-858)CGG>CAG		SH3 and cysteine rich domain 3							85.0	77.0	80.0					12																	57638099		2203	4300	6503	SO:0001630	splice_region_variant	246329				intracellular signal transduction		identical protein binding|metal ion binding	g.chr12:57638099C>T	AK057013	CCDS8936.1, CCDS66405.1, CCDS66406.1	12q13.3	2014-08-12			ENSG00000185482	ENSG00000185482			28423	protein-coding gene	gene with protein product		615521				12477932	Standard	NM_001286257		Approved	MGC2793	uc009zpl.2	Q96MF2	OTTHUMG00000171271	ENST00000332782.2:c.858+1G>A	12.37:g.57638099C>T			OREG0021942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1024	STAC3_uc009zpl.2_Silent_p.A3A|STAC3_uc001snq.2_Missense_Mutation_p.R247Q|STAC3_uc010srm.1_Missense_Mutation_p.R100Q	p.R286Q	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN			10	1052	-			286			SH3 1.		B4DUK9|Q96HU5	Missense_Mutation	SNP	ENST00000332782.2	37	c.857G>A	CCDS8936.1	.	.	.	.	.	.	.	.	.	.	C	34	5.407755	0.96051	.	.	ENSG00000185482	ENST00000554578;ENST00000332782;ENST00000546246	T;T;T	0.51071	0.72;0.72;0.72	5.39	5.39	0.77823	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	T	0.58552	0.2130	L	0.28694	0.88	0.58432	D	0.999999	D	0.76494	0.999	D	0.72982	0.979	T	0.58668	-0.7596	10	0.51188	T	0.08	-11.1474	18.298	0.90153	0.0:1.0:0.0:0.0	.	286	Q96MF2	STAC3_HUMAN	Q	247;286;100	ENSP00000452068:R247Q;ENSP00000329200:R286Q;ENSP00000441515:R100Q	ENSP00000329200:R286Q	R	-	2	0	STAC3	55924366	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.892000	0.56235	2.710000	0.92621	0.655000	0.94253	CGG		0.552	STAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412724.2		NM_145064	Missense_Mutation	5	75	0	0	0	0.014758	0	5	75		
STAC3	246329	broad.mit.edu	37	12	57638949	57638949	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:57638949C>G	ENST00000332782.2	-	7	850	c.649G>C	c.(649-651)Gag>Cag	p.E217Q	STAC3_ENST00000554578.1_Missense_Mutation_p.E178Q|STAC3_ENST00000546246.2_Missense_Mutation_p.E31Q	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	217					intracellular signal transduction (GO:0035556)|neuromuscular synaptic transmission (GO:0007274)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)		identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						TTGCCTTCCTCTGGTCTGGCC	0.592																																						uc001snp.2		NaN																	0				ovary(2)|skin(1)	3						c.(649-651)GAG>CAG		SH3 and cysteine rich domain 3							189.0	165.0	173.0					12																	57638949		2203	4300	6503	SO:0001583	missense	246329				intracellular signal transduction		identical protein binding|metal ion binding	g.chr12:57638949C>G	AK057013	CCDS8936.1, CCDS66405.1, CCDS66406.1	12q13.3	2014-08-12			ENSG00000185482	ENSG00000185482			28423	protein-coding gene	gene with protein product		615521				12477932	Standard	NM_001286257		Approved	MGC2793	uc009zpl.2	Q96MF2	OTTHUMG00000171271	ENST00000332782.2:c.649G>C	12.37:g.57638949C>G	ENSP00000329200:p.Glu217Gln					STAC3_uc009zpl.2_Intron|STAC3_uc001snq.2_Missense_Mutation_p.E178Q|STAC3_uc010srm.1_Missense_Mutation_p.E31Q	p.E217Q	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN			7	844	-			217					B4DUK9|Q96HU5	Missense_Mutation	SNP	ENST00000332782.2	37	c.649G>C	CCDS8936.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.594094	0.46214	.	.	ENSG00000185482	ENST00000554578;ENST00000332782;ENST00000546246	D;D;T	0.81996	-1.55;-1.56;0.01	5.22	4.33	0.51752	.	0.112850	0.64402	D	0.000019	T	0.73171	0.3553	L	0.36672	1.1	0.39511	D	0.968356	B	0.29432	0.244	B	0.24701	0.055	T	0.68637	-0.5356	10	0.14252	T	0.57	-9.8845	13.5886	0.61946	0.0:0.8443:0.1557:0.0	.	217	Q96MF2	STAC3_HUMAN	Q	178;217;31	ENSP00000452068:E178Q;ENSP00000329200:E217Q;ENSP00000441515:E31Q	ENSP00000329200:E217Q	E	-	1	0	STAC3	55925216	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.884000	0.39668	1.331000	0.45412	0.655000	0.94253	GAG		0.592	STAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412724.2		NM_145064		12	117	0	0	0	0.016723	0	12	117		
R3HDM2	22864	broad.mit.edu	37	12	57648809	57648809	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:57648809G>C	ENST00000347140.3	-	24	3068	c.2678C>G	c.(2677-2679)tCt>tGt	p.S893C	RP11-123K3.4_ENST00000548184.1_Intron|R3HDM2_ENST00000403821.2_Missense_Mutation_p.S927C|R3HDM2_ENST00000402412.1_Missense_Mutation_p.S907C|R3HDM2_ENST00000441731.2_Missense_Mutation_p.S588C|R3HDM2_ENST00000358907.2_Missense_Mutation_p.S893C|R3HDM2_ENST00000413953.2_Intron			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	893						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CTTGGCGCCAGACATGGCGAG	0.647																																						uc009zpm.1		NaN																	0				ovary(2)	2						c.(2677-2679)TCT>TGT		R3H domain containing 2							69.0	66.0	67.0					12																	57648809		2203	4300	6503	SO:0001583	missense	22864					nucleus	nucleic acid binding	g.chr12:57648809G>C	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.2678C>G	12.37:g.57648809G>C	ENSP00000317903:p.Ser893Cys					R3HDM2_uc010srn.1_Intron|R3HDM2_uc001snu.2_Missense_Mutation_p.S588C|R3HDM2_uc001snr.2_Missense_Mutation_p.S620C|R3HDM2_uc001sns.2_Missense_Mutation_p.S893C|R3HDM2_uc001snt.2_Missense_Mutation_p.S907C|R3HDM2_uc009zpn.1_Intron	p.S893C	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN			22	2713	-			893					Q2M1T9|Q3ZCT5	Missense_Mutation	SNP	ENST00000347140.3	37	c.2678C>G	CCDS8937.2	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580732	0.46006	.	.	ENSG00000179912	ENST00000393811;ENST00000347140;ENST00000402412;ENST00000358907;ENST00000441731;ENST00000429355;ENST00000403821	T;T;T;T;T;T;T	0.43294	0.95;1.95;1.95;1.95;0.95;1.53;1.96	5.22	5.22	0.72569	.	0.058685	0.64402	D	0.000001	T	0.28034	0.0691	N	0.08118	0	0.31680	N	0.643266	B;B;B;B	0.12630	0.002;0.002;0.006;0.005	B;B;B;B	0.12156	0.003;0.003;0.002;0.007	T	0.25257	-1.0137	10	0.56958	D	0.05	-10.1518	18.0941	0.89483	0.0:0.0:1.0:0.0	.	927;907;893;620	B5MCG9;B5MCU0;Q9Y2K5;E9PAL1	.;.;R3HD2_HUMAN;.	C	620;893;907;893;588;658;927	ENSP00000377400:S620C;ENSP00000317903:S893C;ENSP00000385839:S907C;ENSP00000351784:S893C;ENSP00000408536:S588C;ENSP00000394676:S658C;ENSP00000385169:S927C	ENSP00000317903:S893C	S	-	2	0	R3HDM2	55935076	0.999000	0.42202	0.994000	0.49952	0.992000	0.81027	3.157000	0.50716	2.885000	0.99019	0.655000	0.94253	TCT		0.647	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2		NM_014925		5	70	0	0	0	0.001984	0	5	70		
EID3	493861	broad.mit.edu	37	12	104697894	104697894	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:104697894C>T	ENST00000527879.1	+	1	378	c.182C>T	c.(181-183)tCg>tTg	p.S61L	TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000525566.1_Intron	NM_001008394.2	NP_001008395.1			EP300 interacting inhibitor of differentiation 3											large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						ATCGTGAGCTCGGCGAACAAC	0.612																																						uc001tkw.2		NaN																	0					0						c.(181-183)TCG>TTG		EP300 interacting inhibitor of differentiation							49.0	55.0	53.0					12																	104697894		2058	4183	6241	SO:0001583	missense	493861				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr12:104697894C>T	BC027612	CCDS53822.1	12q23.3	2006-11-24				ENSG00000255150			32961	protein-coding gene	gene with protein product		612986				15987788, 15752197	Standard	NM_001008394		Approved	FLJ25832, NSMCE4B, NSE4B	uc001tkw.3	Q8N140		ENST00000527879.1:c.182C>T	12.37:g.104697894C>T	ENSP00000435619:p.Ser61Leu					TXNRD1_uc010swk.1_Intron|TXNRD1_uc010swl.1_Intron|TXNRD1_uc010swm.1_Intron|TXNRD1_uc010swn.1_Intron|TXNRD1_uc010swo.1_Intron|TXNRD1_uc010swp.1_Intron|TXNRD1_uc010swq.1_Intron|TXNRD1_uc001tku.2_Intron|TXNRD1_uc001tko.1_Intron|TXNRD1_uc001tkp.1_Intron|TXNRD1_uc001tkv.1_Intron	p.S61L	NM_001008394	NP_001008395	Q8N140	EID3_HUMAN			1	346	+			61						Missense_Mutation	SNP	ENST00000527879.1	37	c.182C>T	CCDS53822.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308378	0.40895	.	.	ENSG00000255150	ENST00000527879	T	0.43688	0.94	4.7	4.7	0.59300	.	.	.	.	.	T	0.34106	0.0886	L	0.42245	1.32	0.29663	N	0.843047	P	0.43607	0.812	B	0.37422	0.249	T	0.19386	-1.0307	9	0.26408	T	0.33	.	13.4057	0.60911	0.0:1.0:0.0:0.0	.	61	Q8N140	EID3_HUMAN	L	61	ENSP00000435619:S61L	ENSP00000435619:S61L	S	+	2	0	EID3	103222024	0.954000	0.32549	0.947000	0.38551	0.045000	0.14185	2.401000	0.44513	2.621000	0.88768	0.555000	0.69702	TCG		0.612	EID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387034.1		NM_001008394		5	50	0	0	0	0.014758	0	5	50		
NUAK1	9891	broad.mit.edu	37	12	106460646	106460646	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:106460646G>A	ENST00000261402.2	-	7	3299	c.1920C>T	c.(1918-1920)ctC>ctT	p.L640L		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	640					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						CCATGTCTGTGAGGAGGGAGA	0.627																																						uc001tlj.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1918-1920)CTC>CTT		AMPK-related protein kinase 5							71.0	74.0	73.0					12																	106460646		2203	4300	6503	SO:0001819	synonymous_variant	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106460646G>A	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1920C>T	12.37:g.106460646G>A							p.L640L	NM_014840	NP_055655	O60285	NUAK1_HUMAN			7	3300	-			640					A7MD39|Q96KA8	Silent	SNP	ENST00000261402.2	37	c.1920C>T	CCDS31892.1																																																																																				0.627	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2		NM_014840		6	96	0	0	0	0.001984	0	6	96		
TRPV4	59341	broad.mit.edu	37	12	110230175	110230175	+	Silent	SNP	G	G	A	rs369752162		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:110230175G>A	ENST00000418703.2	-	11	1978	c.1884C>T	c.(1882-1884)taC>taT	p.Y628Y	TRPV4_ENST00000392719.2_Silent_p.Y581Y|TRPV4_ENST00000544971.1_Silent_p.Y521Y|TRPV4_ENST00000261740.2_Silent_p.Y628Y|TRPV4_ENST00000536838.1_Silent_p.Y594Y|TRPV4_ENST00000541794.1_Silent_p.Y581Y|TRPV4_ENST00000346520.2_Silent_p.Y568Y|TRPV4_ENST00000537083.1_Silent_p.Y568Y	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	628					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CACCTGAAGCGTAGCCGATCA	0.537													g|||	1	0.000199681	0.0	0.0	5008	,	,		16402	0.0		0.0	False		,,,				2504	0.001					uc001tpj.1		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(1882-1884)TAC>TAT		transient receptor potential cation channel,		A	,,,,	2,4404	4.2+/-10.8	0,2,2201	64.0	62.0	63.0		1743,1782,1563,1884,1704	-11.5	0.1	12		63	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TRPV4	NM_001177428.1,NM_001177431.1,NM_001177433.1,NM_021625.4,NM_147204.2	,,,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,,,	581/825,594/838,521/765,628/872,568/812	110230175	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110230175G>A	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1884C>T	12.37:g.110230175G>A						TRPV4_uc001tpg.1_Silent_p.Y594Y|TRPV4_uc001tph.1_Silent_p.Y581Y|TRPV4_uc001tpi.1_Silent_p.Y521Y|TRPV4_uc001tpk.1_Silent_p.Y628Y|TRPV4_uc001tpl.1_Silent_p.Y568Y	p.Y628Y	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN			11	1979	-			628			Helical; (Potential).		B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Silent	SNP	ENST00000418703.2	37	c.1884C>T	CCDS9134.1																																																																																				0.537	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1		NM_021625		5	27	0	0	0	0.014758	0	5	27		
DTX1	1840	broad.mit.edu	37	12	113515265	113515265	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:113515265C>G	ENST00000257600.3	+	2	799	c.296C>G	c.(295-297)cCg>cGg	p.P99R		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	99	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						TTCTACGACCCGTCGTCGGCG	0.667																																						uc001tuk.1		NaN																	0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(295-297)CCG>CGG		deltex homolog 1							48.0	47.0	47.0					12																	113515265		2202	4300	6502	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113515265C>G	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.296C>G	12.37:g.113515265C>G	ENSP00000257600:p.Pro99Arg						p.P99R	NM_004416	NP_004407	Q86Y01	DTX1_HUMAN			2	632	+			99			WWE 2.		O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.296C>G	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.498644	0.44455	.	.	ENSG00000135144	ENST00000257600	T	0.32988	1.43	2.81	2.81	0.32909	WWE domain (1);WWE domain, subgroup (1);	0.082401	0.49916	N	0.000138	T	0.49321	0.1550	M	0.65320	2	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	T	0.49011	-0.8983	10	0.44086	T	0.13	-10.7624	12.4157	0.55492	0.0:1.0:0.0:0.0	.	99	Q86Y01	DTX1_HUMAN	R	99	ENSP00000257600:P99R	ENSP00000257600:P99R	P	+	2	0	DTX1	111999648	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.326000	0.65875	1.381000	0.46364	0.423000	0.28283	CCG		0.667	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2				4	54	0	0	0	0.009096	0	4	54		
MPHOSPH9	10198	broad.mit.edu	37	12	123706297	123706297	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:123706297G>A	ENST00000606320.1	-	5	700	c.494C>T	c.(493-495)tCt>tTt	p.S165F	MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.S135F|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.S13F|MPHOSPH9_ENST00000539639.1_5'UTR|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.S13F			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	165						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		ATGGATAACAGATTCATTTCT	0.398																																						uc001uel.2		NaN																	0					0						c.(37-39)TCT>TTT		M-phase phosphoprotein 9							107.0	101.0	103.0					12																	123706297		2203	4300	6503	SO:0001583	missense	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123706297G>A	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.494C>T	12.37:g.123706297G>A	ENSP00000475489:p.Ser165Phe					MPHOSPH9_uc010tal.1_5'UTR|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_5'UTR	p.S13F	NM_022782	NP_073619	Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	1	145	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		13					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	ENST00000606320.1	37	c.38C>T		.	.	.	.	.	.	.	.	.	.	G	4.788	0.146539	0.09134	.	.	ENSG00000051825;ENSG00000051825;ENSG00000257076	ENST00000302349;ENST00000541076;ENST00000540674	T;T;T	0.33216	1.42;1.43;3.75	5.94	0.148	0.14843	.	1.754660	0.02547	N	0.095210	T	0.16896	0.0406	N	0.24115	0.695	0.09310	N	1	B	0.24882	0.113	B	0.17979	0.02	T	0.08617	-1.0713	10	0.10377	T	0.69	0.0994	1.7214	0.02912	0.1552:0.3419:0.2219:0.281	.	13	Q99550	MPP9_HUMAN	F	13;13;165	ENSP00000303597:S13F;ENSP00000445859:S13F;ENSP00000444418:S165F	ENSP00000303597:S13F	S	-	2	0	MPHOSPH9;RP11-546D6.2	122272250	0.000000	0.05858	0.000000	0.03702	0.899000	0.52679	0.057000	0.14279	0.087000	0.17167	0.557000	0.71058	TCT		0.398	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2				5	80	0	0	0	0.014758	0	5	80		
PABPC3	5042	broad.mit.edu	37	13	25670975	25670975	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr13:25670975G>T	ENST00000281589.3	+	1	676	c.639G>T	c.(637-639)aaG>aaT	p.K213N		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	213	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TCTTTGGCAAGTTCGGGCCCG	0.428																																						uc001upy.2		NaN																	0				ovary(3)|skin(1)	4						c.(637-639)AAG>AAT		poly(A) binding protein, cytoplasmic 3							91.0	84.0	86.0					13																	25670975		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25670975G>T	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.639G>T	13.37:g.25670975G>T	ENSP00000281589:p.Lys213Asn						p.K213N	NM_030979	NP_112241	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	700	+		Lung SC(185;0.0225)|Breast(139;0.0602)	213			RRM 3.		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.639G>T	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297763	0.40694	.	.	ENSG00000151846	ENST00000281589	D	0.85088	-1.94	1.6	1.6	0.23607	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.48767	U	0.000161	T	0.77552	0.4147	L	0.49640	1.575	0.47737	D	0.999508	P	0.34977	0.478	B	0.36504	0.226	T	0.74321	-0.3703	10	0.56958	D	0.05	.	4.0204	0.09664	0.2271:0.0:0.7729:0.0	.	213	Q9H361	PABP3_HUMAN	N	213	ENSP00000281589:K213N	ENSP00000281589:K213N	K	+	3	2	PABPC3	24568975	1.000000	0.71417	0.942000	0.38095	0.894000	0.52154	3.353000	0.52247	1.196000	0.43129	0.455000	0.32223	AAG		0.428	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2		NM_030979		5	61	1	0	1.23904e-05	0.014758	1.34354e-05	5	61		
BORA	79866	broad.mit.edu	37	13	73317730	73317730	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr13:73317730G>C	ENST00000390667.5	+	6	541	c.444G>C	c.(442-444)gaG>gaC	p.E148D	BORA_ENST00000464754.1_3'UTR|BORA_ENST00000377815.3_Missense_Mutation_p.E78D	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	148					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)										TTCATTCTGAGAAAAGCGATG	0.343																																						uc001viv.1		NaN																	0					0						c.(442-444)GAG>GAC		aurora borealis							67.0	65.0	65.0					13																	73317730		1837	4078	5915	SO:0001583	missense	79866				cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding	g.chr13:73317730G>C	BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"""chromosome 13 open reading frame 34"""	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.444G>C	13.37:g.73317730G>C	ENSP00000375082:p.Glu148Asp					C13orf34_uc010thq.1_5'UTR|C13orf34_uc010aen.1_Missense_Mutation_p.E223D|C13orf34_uc010thr.1_Missense_Mutation_p.E78D|C13orf34_uc001viw.1_Missense_Mutation_p.E97D	p.E148D	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN		GBM - Glioblastoma multiforme(99;0.000227)	6	563	+		Breast(118;0.0735)	148					B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Missense_Mutation	SNP	ENST00000390667.5	37	c.444G>C	CCDS9446.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.52|10.52	1.372024|1.372024	0.24857|0.24857	.|.	.|.	ENSG00000136122|ENSG00000136122	ENST00000377815;ENST00000390667|ENST00000377814	T;T|T	0.34072|0.44482	1.38;1.44|0.92	5.7|5.7	2.49|2.49	0.30216|0.30216	.|.	0.219669|0.219669	0.47093|0.47093	D|N	0.000250|0.000250	T|T	0.25754|0.25754	0.0627|0.0627	N|N	0.22421|0.22421	0.69|0.69	0.26161|0.26161	N|N	0.980004|0.980004	P;B;B;B|.	0.36837|.	0.571;0.372;0.43;0.372|.	B;B;B;B|.	0.36608|.	0.229;0.114;0.196;0.114|.	T|T	0.10314|0.10314	-1.0635|-1.0635	10|8	0.44086|0.26408	T|T	0.13|0.33	-15.3439|-15.3439	4.9241|4.9241	0.13885|0.13885	0.3406:0.1588:0.5006:0.0|0.3406:0.1588:0.5006:0.0	.|.	78;148;208;148|.	B4DQ30;A8K631;B5LMG6;Q6PGQ7|.	.;.;.;BORA_HUMAN|.	D|Q	78;148|126	ENSP00000367046:E78D;ENSP00000375082:E148D|ENSP00000367045:E126Q	ENSP00000367046:E78D|ENSP00000367045:E126Q	E|E	+|+	3|1	2|0	BORA|BORA	72215731|72215731	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.740000|0.740000	0.42216|0.42216	0.177000|0.177000	0.16801|0.16801	0.701000|0.701000	0.31803|0.31803	0.591000|0.591000	0.81541|0.81541	GAG|GAA		0.343	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045245.3		NM_024808		4	51	0	0	0	0.014758	0	4	51		
TGM1	7051	broad.mit.edu	37	14	24727874	24727874	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr14:24727874G>A	ENST00000206765.6	-	8	1288	c.1165C>T	c.(1165-1167)Cgc>Tgc	p.R389C	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	389			R -> H (in ARCI1; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma). {ECO:0000269|PubMed:11251583}.|R -> P (in ARCI1).		cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CCCAGGCAGCGCAGCACTGTG	0.567																																						uc001wod.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(1165-1167)CGC>TGC		transglutaminase 1	L-Glutamine(DB00130)						128.0	113.0	118.0					14																	24727874		2203	4300	6503	SO:0001583	missense	7051				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr14:24727874G>A	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.1165C>T	14.37:g.24727874G>A	ENSP00000206765:p.Arg389Cys					TGM1_uc010tog.1_Intron	p.R389C	NM_000359	NP_000350	P22735	TGM1_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	8	1289	-			389		R -> H (in NCIE).|R -> P (in ARCI-TGM1).			B4DWR7|Q197M4	Missense_Mutation	SNP	ENST00000206765.6	37	c.1165C>T	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629616	0.67015	.	.	ENSG00000092295	ENST00000206765	D	0.99637	-6.29	4.45	4.45	0.53987	Transglutaminase, conserved site (1);Transglutaminase-like (2);	0.000000	0.85682	D	0.000000	D	0.99743	0.9898	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97084	0.9786	10	0.87932	D	0	-17.889	14.9762	0.71273	0.0:0.0:1.0:0.0	.	389	P22735	TGM1_HUMAN	C	389	ENSP00000206765:R389C	ENSP00000206765:R389C	R	-	1	0	TGM1	23797714	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.233000	0.58651	2.496000	0.84212	0.561000	0.74099	CGC		0.567	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6		NM_000359		4	38	0	0	0	0.009096	0	4	38		
STON2	85439	broad.mit.edu	37	14	81744238	81744238	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr14:81744238C>T	ENST00000267540.2	-	4	1617	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K	STON2_ENST00000555447.1_Missense_Mutation_p.E473K|STON2_ENST00000556280.1_5'Flank	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	473	SHD. {ECO:0000255|PROSITE- ProRule:PRU00403}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AGCTTGAACTCACGGAATGGT	0.493																																						uc010tvu.1		NaN																	0				skin(3)|pancreas(2)	5						c.(1417-1419)GAG>AAG		stonin 2							136.0	138.0	138.0					14																	81744238		2203	4300	6503	SO:0001583	missense	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81744238C>T	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.1417G>A	14.37:g.81744238C>T	ENSP00000267540:p.Glu473Lys					STON2_uc001xvk.1_Missense_Mutation_p.E473K|STON2_uc010tvt.1_Missense_Mutation_p.E270K	p.E473K	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	4	1618	-			473			SHD.		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	c.1417G>A	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135513	0.77662	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.18502	2.21;2.22	6.17	6.17	0.99709	Stonin homology (1);	0.000000	0.85682	D	0.000000	T	0.48021	0.1477	M	0.78049	2.395	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.993;0.997	T	0.37478	-0.9704	10	0.87932	D	0	-27.0001	20.8794	0.99867	0.0:1.0:0.0:0.0	.	473;473	Q8WXE9;G3V2T7	STON2_HUMAN;.	K	473;485;473	ENSP00000450857:E473K;ENSP00000267540:E473K	ENSP00000267540:E473K	E	-	1	0	STON2	80813991	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAG		0.493	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1		NM_033104		7	169	0	0	0	0.001984	0	7	169		
PPP1R13B	23368	broad.mit.edu	37	14	104263749	104263749	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr14:104263749C>T	ENST00000202556.9	-	2	398	c.116G>A	c.(115-117)gGa>gAa	p.G39E	SNORD51_ENST00000365405.1_RNA	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	39					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)				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)				GCTGCCTTCTCCAGGTTCCTT	0.378																																						uc001yof.1		NaN																	0				ovary(1)	1						c.(115-117)GGA>GAA		apoptosis-stimulating protein of p53, 1							149.0	133.0	138.0					14																	104263749		1861	4117	5978	SO:0001583	missense	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104263749C>T	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.116G>A	14.37:g.104263749C>T	ENSP00000202556:p.Gly39Glu					PPP1R13B_uc001yog.1_5'UTR	p.G39E	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN			2	399	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	39					B2RMX5|O94870	Missense_Mutation	SNP	ENST00000202556.9	37	c.116G>A	CCDS41997.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920978	0.92249	.	.	ENSG00000088808	ENST00000202556;ENST00000555734;ENST00000553739	T;T;T	0.76316	-1.01;-1.01;-1.01	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.87661	0.6233	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88448	0.3047	10	0.87932	D	0	.	19.3372	0.94324	0.0:1.0:0.0:0.0	.	39	Q96KQ4	ASPP1_HUMAN	E	39;36;39	ENSP00000202556:G39E;ENSP00000452376:G36E;ENSP00000450734:G39E	ENSP00000202556:G39E	G	-	2	0	PPP1R13B	103333502	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.644000	0.83416	2.642000	0.89623	0.462000	0.41574	GGA		0.378	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1		NM_015316		17	116	0	0	0	0.008871	0	17	116		
C14orf2	9556	broad.mit.edu	37	14	104381411	104381411	+	Missense_Mutation	SNP	C	C	T	rs149160111	byFrequency	TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr14:104381411C>T	ENST00000554880.1	-	2	269	c.116G>A	c.(115-117)cGg>cAg	p.R39Q	C14orf2_ENST00000553449.1_Intron|C14orf2_ENST00000555030.1_Missense_Mutation_p.R39Q|C14orf2_ENST00000414262.2_Missense_Mutation_p.R56Q|C14orf2_ENST00000553430.1_Missense_Mutation_p.R39Q|C14orf2_ENST00000554713.1_Missense_Mutation_p.R39Q|C14orf2_ENST00000557040.1_Missense_Mutation_p.R39Q|C14orf2_ENST00000286953.3_Missense_Mutation_p.R39Q			P56378	68MP_HUMAN	chromosome 14 open reading frame 2	39						integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)				kidney(1)	1				Epithelial(152;0.223)		ACCAGCAGCCCGGATTTTATA	0.383																																						uc001yoi.3		NaN																	0					0						c.(115-117)CGG>CAG		6.8 kDa mitochondrial proteolipid isoform 1		C	GLN/ARG,GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	95.0	93.0	94.0		167,116	4.6	0.8	14	dbSNP_134	94	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	C14orf2	NM_001127393.1,NM_004894.2	43,43	0,5,6498	TT,TC,CC		0.0233,0.0681,0.0384	benign,benign	56/76,39/59	104381411	5,13001	2203	4300	6503	SO:0001583	missense	9556					mitochondrion		g.chr14:104381411C>T	AF054175	CCDS9986.1, CCDS45169.1	14q32.33	2013-02-18			ENSG00000156411	ENSG00000156411			1188	protein-coding gene	gene with protein product	"""6.8 kDa mitochondrial proteolipid"""	604573				9653160	Standard	NM_001127393		Approved	MP68	uc001yoi.4	P56378	OTTHUMG00000171601	ENST00000554880.1:c.116G>A	14.37:g.104381411C>T	ENSP00000452133:p.Arg39Gln					C14orf2_uc001yoj.3_Missense_Mutation_p.R56Q|C14orf2_uc010aww.1_Missense_Mutation_p.R39Q|C14orf2_uc001yok.2_Missense_Mutation_p.R39Q	p.R39Q	NM_004894	NP_004885	P56378	68MP_HUMAN		Epithelial(152;0.223)	2	213	-			39					B2R588|G3V5Q3|Q86TT7	Missense_Mutation	SNP	ENST00000554880.1	37	c.116G>A	CCDS9986.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.555195	0.27739	6.81E-4	2.33E-4	ENSG00000156411	ENST00000286953;ENST00000554880;ENST00000555030;ENST00000414262;ENST00000553430;ENST00000557040;ENST00000554713	T;T;T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23;0.23;0.23	5.5	4.61	0.57282	.	0.211711	0.32802	N	0.005627	T	0.61502	0.2352	.	.	.	0.28260	N	0.924857	D;D;P	0.61080	0.966;0.989;0.728	B;P;B	0.53490	0.413;0.727;0.164	T	0.58154	-0.7686	9	0.41790	T	0.15	.	10.4853	0.44717	0.0:0.9103:0.0:0.0897	.	39;39;39	G3V556;G3V5Q3;P56378	.;.;68MP_HUMAN	Q	39;39;39;56;39;39;39	ENSP00000286953:R39Q;ENSP00000452133:R39Q;ENSP00000452186:R39Q;ENSP00000401770:R56Q;ENSP00000452462:R39Q;ENSP00000450894:R39Q;ENSP00000451500:R39Q	ENSP00000286953:R39Q	R	-	2	0	C14orf2	103451164	0.748000	0.28294	0.837000	0.33122	0.002000	0.02628	1.477000	0.35431	1.316000	0.45131	-0.137000	0.14449	CGG		0.383	C14orf2-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414398.1		NM_001127393		4	58	0	0	0	0.001168	0	4	58		
MKRN3	7681	broad.mit.edu	37	15	23811314	23811314	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr15:23811314G>A	ENST00000314520.3	+	1	861	c.385G>A	c.(385-387)Gag>Aag	p.E129K	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	129					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GATGGCCACTGAGGGTGGCGT	0.622																																						uc001ywh.3		NaN																	0				lung(6)|large_intestine(2)|ovary(2)	10						c.(385-387)GAG>AAG		makorin ring finger protein 3							47.0	50.0	49.0					15																	23811314		2203	4300	6503	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811314G>A	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.385G>A	15.37:g.23811314G>A	ENSP00000313881:p.Glu129Lys					MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.E129K	p.E129K	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	861	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	129						Missense_Mutation	SNP	ENST00000314520.3	37	c.385G>A	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	G	5.390	0.257118	0.10239	.	.	ENSG00000179455	ENST00000314520	T	0.30448	1.53	3.74	-0.55	0.11825	.	0.441952	0.21517	N	0.073289	T	0.14270	0.0345	N	0.24115	0.695	0.09310	N	1	B	0.17465	0.022	B	0.10450	0.005	T	0.33369	-0.9871	10	0.07813	T	0.8	.	7.2335	0.26057	0.1039:0.5154:0.3807:0.0	.	129	Q13064	MKRN3_HUMAN	K	129	ENSP00000313881:E129K	ENSP00000313881:E129K	E	+	1	0	MKRN3	21362407	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	0.522000	0.22909	-0.072000	0.12864	0.563000	0.77884	GAG		0.622	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1		NM_005664		5	42	0	0	0	0.001984	0	5	42		
MAP1A	4130	broad.mit.edu	37	15	43820200	43820200	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr15:43820200C>A	ENST00000300231.5	+	4	6979	c.6529C>A	c.(6529-6531)Ccc>Acc	p.P2177T	MAP1A_ENST00000382031.1_Missense_Mutation_p.P2415T|MAP1A_ENST00000399453.1_Missense_Mutation_p.P2177T			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2177					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCAGCCAGCTCCCCCACAGCT	0.652																																						uc001zrt.2		NaN																	0				ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(6529-6531)CCC>ACC		microtubule-associated protein 1A	Estramustine(DB01196)						86.0	98.0	94.0					15																	43820200		2023	4161	6184	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43820200C>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.6529C>A	15.37:g.43820200C>A	ENSP00000300231:p.Pro2177Thr						p.P2177T	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	6996	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	2177					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.6529C>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	C	8.182	0.794120	0.16327	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01665	4.7;4.71;4.71	4.75	3.79	0.43588	.	0.253458	0.20989	N	0.082080	T	0.02156	0.0067	L	0.32530	0.975	0.26034	N	0.981697	B	0.20671	0.047	B	0.22152	0.038	T	0.37454	-0.9705	10	0.66056	D	0.02	-10.3713	12.7112	0.57089	0.0:0.8196:0.1804:0.0	.	2177	P78559	MAP1A_HUMAN	T	2415;2177;2177	ENSP00000371462:P2415T;ENSP00000382380:P2177T;ENSP00000300231:P2177T	ENSP00000300231:P2177T	P	+	1	0	MAP1A	41607492	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	0.741000	0.26202	2.458000	0.83093	0.655000	0.94253	CCC		0.652	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5		NM_002373		20	146	1	0	3.83957e-06	0.016522	4.1971e-06	20	146		
FRMD5	84978	broad.mit.edu	37	15	44181066	44181066	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr15:44181066C>G	ENST00000417257.1	-	9	909	c.733G>C	c.(733-735)Gag>Cag	p.E245Q	FRMD5_ENST00000484674.1_Missense_Mutation_p.E156Q|FRMD5_ENST00000402883.1_Missense_Mutation_p.E245Q	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	245	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		TTGGTCACCTCATTCCTAGAA	0.478																																						uc001ztl.2		NaN																	0				ovary(1)	1						c.(733-735)GAG>CAG		FERM domain containing 5 isoform 2							100.0	92.0	94.0					15																	44181066		2198	4298	6496	SO:0001583	missense	84978					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr15:44181066C>G	BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.733G>C	15.37:g.44181066C>G	ENSP00000403067:p.Glu245Gln					FRMD5_uc001ztj.1_5'UTR|FRMD5_uc001ztk.1_Missense_Mutation_p.E156Q|FRMD5_uc001ztm.2_5'UTR|FRMD5_uc001ztn.2_Missense_Mutation_p.E11Q	p.E245Q	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)	9	910	-		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)	245			FERM.		Q8NBG4	Missense_Mutation	SNP	ENST00000417257.1	37	c.733G>C	CCDS10107.2	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613292	0.66672	.	.	ENSG00000171877	ENST00000417257;ENST00000402883;ENST00000449926	D;D;D	0.82984	-1.67;-1.67;-1.67	5.17	5.17	0.71159	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.186101	0.48286	D	0.000181	D	0.85265	0.5657	L	0.38175	1.15	0.80722	D	1	D;D;D	0.58970	0.98;0.984;0.984	P;P;P	0.57679	0.731;0.825;0.773	D	0.86704	0.1931	10	0.72032	D	0.01	.	17.4251	0.87525	0.0:1.0:0.0:0.0	.	230;245;245	Q7Z6J6-2;Q7Z6J6;B5MC67	.;FRMD5_HUMAN;.	Q	245;245;211	ENSP00000403067:E245Q;ENSP00000384142:E245Q;ENSP00000399684:E211Q	ENSP00000384142:E245Q	E	-	1	0	FRMD5	41968358	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.211000	0.77933	2.693000	0.91896	0.650000	0.86243	GAG		0.478	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133879.1		NM_032892		7	52	0	0	0	0.001984	0	7	52		
SPPL2A	84888	broad.mit.edu	37	15	51041038	51041038	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr15:51041038G>A	ENST00000261854.5	-	3	481	c.207C>T	c.(205-207)tcC>tcT	p.S69S	RP11-507J18.2_ENST00000558317.1_RNA	NM_032802.3	NP_116191.2	Q8TCT8	SPP2A_HUMAN	signal peptide peptidase like 2A	69	PA.				membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		ATAGTGGTGTGGAAGTCAGAT	0.353																																					Melanoma(50;790 1209 4069 22965 33125)	uc001zyv.2		NaN																	0					0						c.(205-207)TCC>TCT		signal peptide peptidase-like 2A							125.0	117.0	120.0					15																	51041038		2196	4294	6490	SO:0001819	synonymous_variant	84888					integral to membrane	aspartic-type endopeptidase activity	g.chr15:51041038G>A		CCDS10138.1	15q21.2	2012-02-21			ENSG00000138600	ENSG00000138600			30227	protein-coding gene	gene with protein product	"""intramembrane protease 3"", ""presenilin-like protein 2"""	608238				12077416, 12139484	Standard	NM_032802		Approved	IMP3, PSL2	uc001zyv.3	Q8TCT8	OTTHUMG00000131647	ENST00000261854.5:c.207C>T	15.37:g.51041038G>A							p.S69S	NM_032802	NP_116191	Q8TCT8	PSL2_HUMAN		all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)	3	387	-			69			Cytoplasmic (Potential).|PA.		B2RDS0|Q8TAW1|Q96SZ8	Silent	SNP	ENST00000261854.5	37	c.207C>T	CCDS10138.1																																																																																				0.353	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254543.3		NM_032802		11	106	0	0	0	0.013537	0	11	106		
MCTP2	55784	broad.mit.edu	37	15	95019959	95019959	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr15:95019959C>T	ENST00000357742.4	+	21	2505	c.2505C>T	c.(2503-2505)ccC>ccT	p.P835P	MCTP2_ENST00000451018.3_Silent_p.P780P|MCTP2_ENST00000449432.3_3'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	835					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TTCGAAATCCCTATTCCATCG	0.378																																						uc002btj.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(2503-2505)CCC>CCT		multiple C2 domains, transmembrane 2 isoform 1							108.0	111.0	110.0					15																	95019959		2197	4298	6495	SO:0001819	synonymous_variant	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:95019959C>T	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.2505C>T	15.37:g.95019959C>T						MCTP2_uc010boj.2_Silent_p.P564P|MCTP2_uc010bok.2_Silent_p.P780P|MCTP2_uc002btl.2_Silent_p.P423P	p.P835P	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		21	2570	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		835					A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Silent	SNP	ENST00000357742.4	37	c.2505C>T	CCDS32338.1																																																																																				0.378	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3		NM_018349		8	59	0	0	0	0.004482	0	8	59		
TXNDC11	51061	broad.mit.edu	37	16	11773514	11773514	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr16:11773514C>G	ENST00000356957.3	-	13	2602	c.2495G>C	c.(2494-2496)aGa>aCa	p.R832T	TXNDC11_ENST00000570917.1_5'UTR|TXNDC11_ENST00000283033.5_Missense_Mutation_p.R805T			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	832					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CTGGATCTCTCTCTCCAAGTG	0.582																																						uc010buu.1		NaN																	0					0						c.(2494-2496)AGA>ACA		thioredoxin domain containing 11							78.0	70.0	73.0					16																	11773514		2197	4300	6497	SO:0001583	missense	51061				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		g.chr16:11773514C>G	BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.2495G>C	16.37:g.11773514C>G	ENSP00000349439:p.Arg832Thr					TXNDC11_uc002dbg.1_Missense_Mutation_p.R805T	p.R832T	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN			13	2557	-			832			Potential.		O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP	ENST00000356957.3	37	c.2495G>C		.	.	.	.	.	.	.	.	.	.	C	13.34	2.209048	0.39003	.	.	ENSG00000153066	ENST00000356957;ENST00000283033	T;T	0.15256	2.66;2.44	5.63	2.26	0.28386	.	0.601209	0.18621	N	0.135857	T	0.14356	0.0347	L	0.54323	1.7	0.29271	N	0.870673	P;B	0.35174	0.488;0.372	B;B	0.27796	0.079;0.083	T	0.08722	-1.0708	10	0.59425	D	0.04	-15.4645	9.0873	0.36590	0.0:0.6333:0.0:0.3667	.	832;805	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	T	832;805	ENSP00000349439:R832T;ENSP00000283033:R805T	ENSP00000283033:R805T	R	-	2	0	TXNDC11	11681015	0.000000	0.05858	0.997000	0.53966	0.997000	0.91878	-0.070000	0.11523	0.715000	0.32103	0.655000	0.94253	AGA		0.582	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1		NM_015914		5	39	0	0	0	0.001168	0	5	39		
TMC5	79838	broad.mit.edu	37	16	19501754	19501754	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr16:19501754C>G	ENST00000396229.2	+	18	3360	c.2611C>G	c.(2611-2613)Ctg>Gtg	p.L871V	TMC5_ENST00000564959.1_Missense_Mutation_p.L554V|TMC5_ENST00000381414.4_Intron|TMC5_ENST00000541464.1_Missense_Mutation_p.L819V|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000219821.5_Missense_Mutation_p.L625V|TMC5_ENST00000542583.2_Missense_Mutation_p.L871V|TMC5_ENST00000561503.1_Missense_Mutation_p.L512V	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	871					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTTTCGAGGTCTGCCTCTCTT	0.478																																						uc002dgc.3		NaN																	0				skin(1)	1						c.(2611-2613)CTG>GTG		transmembrane channel-like 5 isoform a							237.0	202.0	214.0					16																	19501754		2197	4300	6497	SO:0001583	missense	79838					integral to membrane		g.chr16:19501754C>G	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.2611C>G	16.37:g.19501754C>G	ENSP00000379531:p.Leu871Val					TMC5_uc010vaq.1_Missense_Mutation_p.L819V|TMC5_uc002dgb.3_Intron|TMC5_uc010var.1_Missense_Mutation_p.L871V|TMC5_uc002dgd.1_Missense_Mutation_p.L625V|TMC5_uc002dge.3_Missense_Mutation_p.L625V|TMC5_uc002dgf.3_Missense_Mutation_p.L554V|TMC5_uc002dgg.3_Missense_Mutation_p.L512V	p.L871V	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN			18	3360	+			871			Cytoplasmic (Potential).		Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.2611C>G	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.251523	0.59212	.	.	ENSG00000103534	ENST00000541464;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T	0.70631	-0.24;-0.36;-0.36;-0.5	5.41	4.45	0.53987	.	.	.	.	.	T	0.72771	0.3502	M	0.84326	2.69	0.32138	N	0.58584	P;B;P;P;B	0.42161	0.772;0.096;0.468;0.525;0.338	B;B;P;B;B	0.44561	0.333;0.062;0.453;0.275;0.172	T	0.73733	-0.3890	9	0.19147	T	0.46	-5.2543	9.6125	0.39672	0.0:0.8423:0.0:0.1577	.	819;554;625;625;871	F5GYU8;E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8	.;.;.;.;TMC5_HUMAN	V	819;871;871;625;554	ENSP00000441227:L819V;ENSP00000379531:L871V;ENSP00000446274:L871V;ENSP00000219821:L625V	ENSP00000219821:L625V	L	+	1	2	TMC5	19409255	0.431000	0.25546	0.989000	0.46669	0.971000	0.66376	0.734000	0.26101	2.527000	0.85204	0.561000	0.74099	CTG		0.478	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1		NM_024780		19	116	0	0	0	0.007413	0	19	116		
PAPD5	64282	broad.mit.edu	37	16	50257151	50257151	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr16:50257151G>A	ENST00000561678.1	+	6	933	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	PAPD5_ENST00000357464.3_Missense_Mutation_p.E318K|PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000436909.3_Missense_Mutation_p.E397K			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	318					histone mRNA catabolic process (GO:0071044)|mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		AGAATTTTTTGAATTATATGG	0.343																																						uc010vgo.1		NaN																	0					0						c.(1189-1191)GAA>AAA		PAP associated domain containing 5 isoform a							76.0	75.0	75.0					16																	50257151		1804	4071	5875	SO:0001583	missense	64282				cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr16:50257151G>A	AF089897	CCDS54006.1	16q12.1	2010-11-18				ENSG00000121274			30758	protein-coding gene	gene with protein product	"""TUTase3"""	605540				10066793	Standard	NM_001040284		Approved	TRF4-2	uc010vgo.2	Q8NDF8		ENST00000561678.1:c.859G>A	16.37:g.50257151G>A	ENSP00000455837:p.Glu287Lys					PAPD5_uc010cbi.2_RNA|PAPD5_uc002efz.2_Missense_Mutation_p.E188K|PAPD5_uc002ega.2_Missense_Mutation_p.E188K	p.E397K	NM_001040284	NP_001035374	Q8NDF8	PAPD5_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)	8	1224	+		all_cancers(37;0.0452)	318			PAP-associated.		B4DV38|Q9NW67|Q9Y6C0	Missense_Mutation	SNP	ENST00000561678.1	37	c.1189G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.614498	0.96649	.	.	ENSG00000121274	ENST00000436909;ENST00000357464	T;T	0.78003	-1.14;-1.14	5.87	5.87	0.94306	PAP/25A-associated (1);	0.000000	0.85682	D	0.000000	D	0.90000	0.6878	M	0.85859	2.78	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.99	D	0.90237	0.4283	10	0.87932	D	0	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	397;318	B4DV38;Q8NDF8	.;PAPD5_HUMAN	K	397;318	ENSP00000396995:E397K;ENSP00000350054:E318K	ENSP00000350054:E318K	E	+	1	0	PAPD5	48814652	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.607000	0.82883	2.941000	0.99782	0.655000	0.94253	GAA		0.343	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000423150.1		NM_022447		4	59	0	0	0	0.009096	0	4	59		
CX3CL1	6376	broad.mit.edu	37	16	57406489	57406489	+	Silent	SNP	G	G	A	rs150111366		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr16:57406489G>A	ENST00000006053.6	+	1	120	c.9G>A	c.(7-9)ccG>ccA	p.P3P	CX3CL1_ENST00000564948.1_Silent_p.P3P|CX3CL1_ENST00000563383.1_Silent_p.P3P	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	3					angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CCATGGCTCCGATATCTCTGT	0.657																																						uc002eli.2		NaN																	0					0						c.(7-9)CCG>CCA		chemokine (C-X3-C motif) ligand 1 precursor							75.0	56.0	63.0					16																	57406489		2198	4300	6498	SO:0001819	synonymous_variant	6376				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity	g.chr16:57406489G>A	U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"""Endogenous ligands"""	10647	protein-coding gene	gene with protein product		601880	"""small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"""	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.9G>A	16.37:g.57406489G>A							p.P3P	NM_002996	NP_002987	P78423	X3CL1_HUMAN			1	76	+			3					O00672	Silent	SNP	ENST00000006053.6	37	c.9G>A	CCDS10779.1																																																																																				0.657	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257345.3		NM_002996		12	42	0	0	0	0.020292	0	12	42		
CDH11	1009	broad.mit.edu	37	16	64984875	64984875	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr16:64984875C>T	ENST00000268603.4	-	12	2304	c.1689G>A	c.(1687-1689)caG>caA	p.Q563Q	CDH11_ENST00000394156.3_Silent_p.Q563Q|CDH11_ENST00000566827.1_Silent_p.Q437Q	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	563	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			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)		AGTCCTGCTTCTGCCGACTGA	0.592			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												uc002eoi.2		NaN		Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				lung(10)|ovary(3)|skin(1)	14						c.(1687-1689)CAG>CAA		cadherin 11, type 2 preproprotein							78.0	71.0	73.0					16																	64984875		2203	4300	6503	SO:0001819	synonymous_variant	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.chr16:64984875C>T	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.1689G>A	16.37:g.64984875C>T		TSP Lung(24;0.17)				CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Silent_p.Q563Q|CDH11_uc010vin.1_Silent_p.Q437Q	p.Q563Q	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	12	2123	-		Ovarian(137;0.0973)	563			Cadherin 5.|Extracellular (Potential).		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	c.1689G>A	CCDS10803.1																																																																																				0.592	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1		NM_033664		11	32	0	0	0	0.013537	0	11	32		
CTCF	10664	broad.mit.edu	37	16	67662347	67662347	+	Silent	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr16:67662347C>A	ENST00000264010.4	+	9	2037	c.1593C>A	c.(1591-1593)acC>acA	p.T531T	CTCF_ENST00000401394.1_Silent_p.T203T	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	531					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GCGATAAGACCTTCCGCCAGA	0.547																																					Colon(175;1200 1966 6945 23069 27405)	uc002etl.2		NaN																	0				ovary(1)	1						c.(1591-1593)ACC>ACA		CCCTC-binding factor							171.0	139.0	150.0					16																	67662347		2198	4300	6498	SO:0001819	synonymous_variant	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67662347C>A	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1593C>A	16.37:g.67662347C>A						CTCF_uc010cek.2_Silent_p.T203T|CTCF_uc002etm.1_Silent_p.T20T	p.T531T	NM_006565	NP_006556	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	9	1883	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	531			C2H2-type 10.		B5MC38|Q53XI7|Q59EL8	Silent	SNP	ENST00000264010.4	37	c.1593C>A	CCDS10841.1																																																																																				0.547	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2		NM_006565		23	76	1	0	1.10513e-12	0.014323	1.25372e-12	23	76		
NUDT7	283927	broad.mit.edu	37	16	77759451	77759451	+	Silent	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr16:77759451C>G	ENST00000268533.5	+	2	228	c.159C>G	c.(157-159)ctC>ctG	p.L53L	NUDT7_ENST00000437314.3_Silent_p.L53L|NUDT7_ENST00000563839.1_Intron|NUDT7_ENST00000568787.1_Silent_p.L53L|NUDT7_ENST00000564085.1_Silent_p.L53L	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	53	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				acetyl-CoA catabolic process (GO:0046356)|brown fat cell differentiation (GO:0050873)|coenzyme A catabolic process (GO:0015938)|nucleoside diphosphate metabolic process (GO:0009132)	peroxisome (GO:0005777)	acetyl-CoA hydrolase activity (GO:0003986)|hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|receptor binding (GO:0005102)|snoRNA binding (GO:0030515)			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						AAGGAAAACTCCATTTGTTGT	0.428																																						uc010chd.2		NaN																	0				ovary(1)|kidney(1)	2						c.(157-159)CTC>CTG		nudix motif 7							103.0	103.0	103.0					16																	77759451		1859	4086	5945	SO:0001819	synonymous_variant	283927				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding	g.chr16:77759451C>G	AA227330	CCDS42195.1, CCDS58480.1, CCDS58479.1, CCDS73916.1	16q23.1	2007-06-15				ENSG00000140876		"""Nudix motif containing"""	8054	protein-coding gene	gene with protein product		609231				11415433	Standard	NM_001105663		Approved		uc010chd.3	P0C024		ENST00000268533.5:c.159C>G	16.37:g.77759451C>G						NUDT7_uc002fff.2_Silent_p.L53L|NUDT7_uc010vnj.1_Silent_p.L53L	p.L53L	NM_001105663	NP_001099133	P0C024	NUDT7_HUMAN			2	228	+			53			Nudix hydrolase.		B4DLE5|H3BUB8	Silent	SNP	ENST00000268533.5	37	c.159C>G	CCDS42195.1																																																																																				0.428	NUDT7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433873.1				12	41	0	0	0	0.003163	0	12	41		
PRPF8	10594	broad.mit.edu	37	17	1562039	1562039	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr17:1562039G>A	ENST00000572621.1	-	32	5422	c.5157C>T	c.(5155-5157)ttC>ttT	p.F1719F	PRPF8_ENST00000304992.6_Silent_p.F1719F			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1719	Involved in interaction with pre-mRNA 5' splice site.|Restriction endonuclease homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGCTGCCTGGGAACCAGTTTC	0.507																																						uc002fte.2		NaN																	0				lung(4)|ovary(2)	6						c.(5155-5157)TTC>TTT		U5 snRNP-specific protein							92.0	77.0	82.0					17																	1562039		2203	4300	6503	SO:0001819	synonymous_variant	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1562039G>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.5157C>T	17.37:g.1562039G>A							p.F1719F	NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	33	5271	-			1719			Involved in interaction with pre-mRNA 5' splice site.		O14547|O75965	Silent	SNP	ENST00000572621.1	37	c.5157C>T	CCDS11010.1																																																																																				0.507	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2				6	60	0	0	0	0.001984	0	6	60		
DNAH2	146754	broad.mit.edu	37	17	7721269	7721269	+	Silent	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr17:7721269G>C	ENST00000572933.1	+	68	11702	c.10242G>C	c.(10240-10242)ctG>ctC	p.L3414L	DNAH2_ENST00000389173.2_Silent_p.L3414L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3414	AAA 5. {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)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCTAGGGCCTGAAGATCATCG	0.577																																						uc002giu.1		NaN																	0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(10240-10242)CTG>CTC		dynein heavy chain domain 3							116.0	109.0	112.0					17																	7721269		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7721269G>C	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.10242G>C	17.37:g.7721269G>C						DNAH2_uc010cnm.1_Silent_p.L352L	p.L3414L	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			67	10256	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3414			AAA 5 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.10242G>C	CCDS32551.1																																																																																				0.577	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1		NM_020877		13	103	0	0	0	0.003163	0	13	103		
GUCY2D	3000	broad.mit.edu	37	17	7915609	7915609	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr17:7915609C>T	ENST00000254854.4	+	9	2047	c.1897C>T	c.(1897-1899)Cag>Tag	p.Q633*		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	633	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				CCTCCTCGCTCAGAGAGAAAT	0.632																																						uc002gjt.2		NaN																	0				skin(1)	1						c.(1897-1899)CAG>TAG		guanylate cyclase 2D, membrane (retina-specific)							65.0	66.0	66.0					17																	7915609		2203	4300	6503	SO:0001587	stop_gained	3000				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chr17:7915609C>T	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.1897C>T	17.37:g.7915609C>T	ENSP00000254854:p.Gln633*						p.Q633*	NM_000180	NP_000171	Q02846	GUC2D_HUMAN			9	1971	+		Prostate(122;0.157)	633			Protein kinase.|Cytoplasmic (Potential).		Q6LEA7	Nonsense_Mutation	SNP	ENST00000254854.4	37	c.1897C>T	CCDS11127.1	.	.	.	.	.	.	.	.	.	.	C	37	6.190178	0.97362	.	.	ENSG00000132518	ENST00000254854	.	.	.	5.44	4.46	0.54185	.	0.000000	0.47093	D	0.000256	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	11.8015	0.52130	0.4276:0.5723:0.0:0.0	.	.	.	.	X	633	.	ENSP00000254854:Q633X	Q	+	1	0	GUCY2D	7856334	0.997000	0.39634	0.997000	0.53966	0.411000	0.31082	3.675000	0.54605	1.505000	0.48720	0.655000	0.94253	CAG		0.632	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2				4	56	0	0	0	0.009096	0	4	56		
KRT28	162605	broad.mit.edu	37	17	38955182	38955182	+	Missense_Mutation	SNP	C	C	A	rs552617156		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr17:38955182C>A	ENST00000306658.7	-	2	585	c.520G>T	c.(520-522)Gat>Tat	p.D174Y		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				AGCCTGAAATCATCAGCAGCC	0.323																																					Melanoma(19;789 869 15380 26882 39836)	uc002hvh.1		NaN																	0				ovary(1)	1						c.(520-522)GAT>TAT		keratin 25D							110.0	111.0	111.0					17																	38955182		2203	4299	6502	SO:0001583	missense	162605					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38955182C>A	AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.520G>T	17.37:g.38955182C>A	ENSP00000305263:p.Asp174Tyr						p.D174Y	NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN			2	586	-		Breast(137;0.000301)	174			Rod.|Coil 1B.			Missense_Mutation	SNP	ENST00000306658.7	37	c.520G>T	CCDS11376.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.947254	0.53186	.	.	ENSG00000173908	ENST00000306658	D	0.84370	-1.84	5.36	4.37	0.52481	Filament (1);	0.190011	0.36815	N	0.002386	D	0.94860	0.8339	H	0.98351	4.21	0.44547	D	0.997504	D	0.89917	1.0	D	0.91635	0.999	D	0.95087	0.8218	10	0.87932	D	0	.	9.9619	0.41701	0.1393:0.7864:0.0:0.0743	.	174	Q7Z3Y7	K1C28_HUMAN	Y	174	ENSP00000305263:D174Y	ENSP00000305263:D174Y	D	-	1	0	KRT28	36208708	0.999000	0.42202	0.054000	0.19295	0.724000	0.41520	4.336000	0.59304	1.364000	0.46038	0.655000	0.94253	GAT		0.323	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2		NM_181535		6	122	1	0	1.26484e-09	0.00308	1.41119e-09	6	122		
BRIP1	83990	broad.mit.edu	37	17	59926522	59926522	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr17:59926522T>C	ENST00000259008.2	-	5	742	c.475A>G	c.(475-477)Aaa>Gaa	p.K159E	BRIP1_ENST00000577598.1_Missense_Mutation_p.K159E	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	159	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CGAATTCTTTTCTTCTCTACT	0.378			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														uc002izk.1		NaN	yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	F|N|Mis	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		AML|leukemia|breast			0				ovary(1)	1						c.(475-477)AAA>GAA	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	BRCA1 interacting protein C-terminal helicase 1							181.0	174.0	176.0					17																	59926522		2203	4300	6503	SO:0001583	missense	83990	Fanconi_Anemia			DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59926522T>C	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.475A>G	17.37:g.59926522T>C	ENSP00000259008:p.Lys159Glu						p.K159E	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN			5	616	-			159			Nuclear localization signal (Potential).|Helicase ATP-binding.		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.475A>G	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.550678	0.86127	.	.	ENSG00000136492	ENST00000259008	T	0.61859	0.07	5.85	5.85	0.93711	DEAD-like helicase (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.050050	0.85682	D	0.000000	T	0.71341	0.3328	L	0.57536	1.79	0.47123	D	0.999322	D	0.76494	0.999	D	0.80764	0.994	T	0.71101	-0.4690	9	.	.	.	-27.9369	13.6257	0.62163	0.0:0.0:0.0:1.0	.	159	Q9BX63	FANCJ_HUMAN	E	159	ENSP00000259008:K159E	.	K	-	1	0	BRIP1	57281304	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.696000	0.61774	2.234000	0.73211	0.533000	0.62120	AAA		0.378	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1		NM_032043		15	92	0	0	0	0.020292	0	15	92		
SCN4A	6329	broad.mit.edu	37	17	62038715	62038715	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr17:62038715G>A	ENST00000435607.1	-	11	1759	c.1683C>T	c.(1681-1683)tgC>tgT	p.C561C	SCN4A_ENST00000578147.1_Silent_p.C561C	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	561					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCCACGGGGCGCAGCAGTTCC	0.562																																						uc002jds.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1681-1683)TGC>TGT		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						201.0	208.0	206.0					17																	62038715		2082	4207	6289	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62038715G>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.1683C>T	17.37:g.62038715G>A							p.C561C	NM_000334	NP_000325	P35499	SCN4A_HUMAN			11	1760	-			561					Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.1683C>T	CCDS45761.1																																																																																				0.562	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_000334		9	197	0	0	0	0.008291	0	9	197		
CSNK1D	1453	broad.mit.edu	37	17	80223620	80223620	+	Silent	SNP	T	T	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr17:80223620T>C	ENST00000314028.6	-	2	478	c.129A>G	c.(127-129)aaA>aaG	p.K43K	CSNK1D_ENST00000392334.2_Silent_p.K43K|CSNK1D_ENST00000398519.5_Silent_p.K43K	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	43	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle (GO:0005819)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			GGTGTTTGGTTTTGACACATT	0.463																																						uc002kej.2		NaN																	0				breast(2)	2						c.(127-129)AAA>AAG		casein kinase 1, delta isoform 1							273.0	227.0	242.0					17																	80223620		2203	4300	6503	SO:0001819	synonymous_variant	1453				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:80223620T>C		CCDS11805.1, CCDS11806.1	17q25	2013-01-17				ENSG00000141551			2452	protein-coding gene	gene with protein product		600864				7797465	Standard	NM_001893		Approved	HCKID, CKID, CKIdelta	uc002kej.3	P48730		ENST00000314028.6:c.129A>G	17.37:g.80223620T>C						CSNK1D_uc002kef.2_Silent_p.K43K|CSNK1D_uc002kei.2_Silent_p.K43K|CSNK1D_uc010wvj.1_5'UTR	p.K43K	NM_001893	NP_001884	P48730	KC1D_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)		2	445	-	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		43			Protein kinase.		A2I2P2|Q96KZ6|Q9BTN5	Silent	SNP	ENST00000314028.6	37	c.129A>G	CCDS11805.1																																																																																				0.463	CSNK1D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442632.1		NM_139062		7	127	0	0	0	0.00308	0	7	127		
EMILIN2	84034	broad.mit.edu	37	18	2913063	2913063	+	Splice_Site	SNP	A	A	C	rs113730111		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr18:2913063A>C	ENST00000254528.3	+	8	2983		c.e8-1		EMILIN2_ENST00000308080.5_Splice_Site	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2						cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TTCTCCCCGCAGGGGTCTTCA	0.617																																						uc002kln.2		NaN																	0				skin(2)|ovary(1)	3						c.e8-2		elastin microfibril interfacer 2 precursor							38.0	41.0	40.0					18																	2913063		2203	4300	6503	SO:0001630	splice_region_variant	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2913063A>C	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.2825-1A>C	18.37:g.2913063A>C							p.G942_splice	NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	8	2984	+								B2RMY3|Q8NBH3|Q96JQ4	Splice_Site	SNP	ENST00000254528.3	37	c.2825_splice	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	A	12.08	1.830834	0.32329	.	.	ENSG00000132205	ENST00000254528;ENST00000308080	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6694	0.77262	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EMILIN2	2903063	1.000000	0.71417	0.977000	0.42913	0.072000	0.16883	8.851000	0.92205	2.155000	0.67459	0.533000	0.62120	.		0.617	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2		NM_032048	Intron	4	39	0	0	0	0.009096	0	4	39		
C18orf8	29919	broad.mit.edu	37	18	21083604	21083604	+	Silent	SNP	C	C	T	rs143953070	byFrequency	TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr18:21083604C>T	ENST00000269221.3	+	1	132	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L	C18orf8_ENST00000590868.1_Silent_p.L8L	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	8						lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GGACTACTATCTGGAGCTGTG	0.726																																						uc010xax.1		NaN																	0				ovary(1)	1						c.(22-24)CTG>TTG		colon cancer-associated protein Mic1							38.0	41.0	40.0					18																	21083604		2203	4300	6503	SO:0001819	synonymous_variant	29919							g.chr18:21083604C>T	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"""colon cancer associated protein Mic1"", ""macrophage inhibitory cytokine 1"""					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.22C>T	18.37:g.21083604C>T						C18orf8_uc010xau.1_5'UTR|C18orf8_uc010xav.1_Silent_p.L8L|C18orf8_uc010xaw.1_5'UTR|C18orf8_uc002kul.2_RNA	p.L8L	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN			1	143	+	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)		8					Q9BU17|Q9Y5M0	Silent	SNP	ENST00000269221.3	37	c.22C>T	CCDS32803.1																																																																																				0.726	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1		NM_013326		4	38	0	0	0	0.009096	0	4	38		
ATP5A1	498	broad.mit.edu	37	18	43668178	43668178	+	Silent	SNP	G	G	A	rs59386231		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr18:43668178G>A	ENST00000398752.6	-	6	817	c.696C>T	c.(694-696)ttC>ttT	p.F232F	ATP5A1_ENST00000590665.1_Silent_p.F210F|ATP5A1_ENST00000593152.2_Silent_p.F182F|ATP5A1_ENST00000282050.2_Silent_p.F232F	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	232					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|embryo development (GO:0009790)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of endothelial cell proliferation (GO:0001937)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting ATP synthase complex, catalytic core F(1) (GO:0045261)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						ATCCATCATTGAAACGTTTCT	0.348																																						uc002lbr.1		NaN																	0					0						c.(694-696)TTC>TTT		ATP synthase, H+ transporting, mitochondrial F1							106.0	102.0	103.0					18																	43668178		2203	4300	6503	SO:0001819	synonymous_variant	498				ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr18:43668178G>A	D14710	CCDS11927.1, CCDS58620.1, CCDS59315.1	18q21	2012-10-12	2006-01-13		ENSG00000152234	ENSG00000152234	3.6.1.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	823	protein-coding gene	gene with protein product		164360	"""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2"", ""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle"""	ATP5AL2, ATPM		1830491	Standard	NM_001257334		Approved	ATP5A, hATP1, OMR, ORM	uc002lbr.2	P25705	OTTHUMG00000132637	ENST00000398752.6:c.696C>T	18.37:g.43668178G>A						ATP5A1_uc010dnl.1_Silent_p.F182F|ATP5A1_uc002lbs.1_Silent_p.F182F|ATP5A1_uc002lbt.1_Silent_p.F232F	p.F232F	NM_004046	NP_004037	P25705	ATPA_HUMAN			6	786	-			232					A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Silent	SNP	ENST00000398752.6	37	c.696C>T	CCDS11927.1																																																																																				0.348	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1		NM_004046		7	85	0	0	0	0.004482	0	7	85		
KATNAL2	83473	broad.mit.edu	37	18	44593394	44593394	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr18:44593394C>T	ENST00000245121.5	+	8	707	c.513C>T	c.(511-513)gaC>gaT	p.D171D	KATNAL2_ENST00000356157.7_Silent_p.D243D|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2											central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						CATTGCAGGACATTTATCTCC	0.353																																						uc002lco.2		NaN																	0				ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						c.(511-513)GAC>GAT		katanin p60 subunit A-like 2							87.0	80.0	82.0					18																	44593394		2203	4300	6503	SO:0001819	synonymous_variant	83473					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	g.chr18:44593394C>T	BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"""ATPases / AAA-type"""	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000245121.5:c.513C>T	18.37:g.44593394C>T						KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lcp.3_Intron	p.D171D	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN			8	707	+			243						Silent	SNP	ENST00000245121.5	37	c.513C>T	CCDS32828.1																																																																																				0.353	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446138.2		NM_031303		4	34	0	0	0	0.009096	0	4	34		
CDH20	28316	broad.mit.edu	37	18	59206358	59206358	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr18:59206358G>C	ENST00000262717.4	+	9	1908	c.1510G>C	c.(1510-1512)Gag>Cag	p.E504Q	CDH20_ENST00000536675.2_Missense_Mutation_p.E504Q|CDH20_ENST00000538374.1_Missense_Mutation_p.E504Q			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	504	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TTTTGTCTGTGAGAACGCCAA	0.463																																						uc010dps.1		NaN																	0				breast(3)|ovary(1)|pancreas(1)	5						c.(1510-1512)GAG>CAG		cadherin 20, type 2 preproprotein							167.0	158.0	161.0					18																	59206358		2203	4300	6503	SO:0001583	missense	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59206358G>C	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1510G>C	18.37:g.59206358G>C	ENSP00000262717:p.Glu504Gln					CDH20_uc002lif.2_Missense_Mutation_p.E498Q	p.E504Q	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN			8	1522	+		Colorectal(73;0.186)	504			Cadherin 5.|Extracellular (Potential).		Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	c.1510G>C	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.982404	0.93044	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.75938	-0.98;-0.98;-0.98	5.77	5.77	0.91146	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.91341	0.7269	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93388	0.6749	10	0.87932	D	0	.	19.9992	0.97404	0.0:0.0:1.0:0.0	.	504	Q9HBT6	CAD20_HUMAN	Q	504	ENSP00000444767:E504Q;ENSP00000442226:E504Q;ENSP00000262717:E504Q	ENSP00000262717:E504Q	E	+	1	0	CDH20	57357338	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.379000	0.97198	2.724000	0.93272	0.643000	0.83706	GAG		0.463	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2		NM_031891		20	121	0	0	0	0.014323	0	20	121		
PRTN3	5657	broad.mit.edu	37	19	843531	843531	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:843531C>T	ENST00000234347.5	+	2	178	c.132C>T	c.(130-132)tcC>tcT	p.S44S	PRTN3_ENST00000544537.2_Silent_p.S3S	NM_002777.3	NP_002768.3	P24158	PRTN3_HUMAN	proteinase 3	44	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				collagen catabolic process (GO:0030574)|mature dendritic cell differentiation (GO:0097029)|negative regulation of phagocytosis (GO:0050765)|positive regulation of cell proliferation (GO:0008284)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			lung(1)|ovary(2)|urinary_tract(1)	4		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		ACATGGCCTCCCTGCAGATGC	0.706																																						uc002lqa.1		NaN																	0				ovary(1)	1						c.(130-132)TCC>TCT		myeloblastin							10.0	11.0	11.0					19																	843531		2172	4256	6428	SO:0001819	synonymous_variant	5657				collagen catabolic process|positive regulation of cell proliferation|proteolysis		protein binding|serine-type endopeptidase activity	g.chr19:843531C>T		CCDS32860.1	19p13.3	2008-07-31	2008-07-31			ENSG00000196415			9495	protein-coding gene	gene with protein product	"""myeloblastin"", ""serine proteinase, neutrophil"", ""Wegener granulomatosis autoantigen"""	177020				2258701	Standard	NM_002777		Approved	PR-3, ACPA, C-ANCA, AGP7, MBT, P29	uc002lqa.1	P24158		ENST00000234347.5:c.132C>T	19.37:g.843531C>T							p.S44S	NM_002777	NP_002768	P24158	PRTN3_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	156	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	44			Peptidase S1.		P15637|P18078|Q4VB08|Q4VB09|Q6LBM7|Q6LBN2|Q9UD25|Q9UQD8	Silent	SNP	ENST00000234347.5	37	c.132C>T	CCDS32860.1																																																																																				0.706	PRTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457888.2		NM_002777		3	4	0	0	0	0.009096	0	3	4		
DPP9	91039	broad.mit.edu	37	19	4704192	4704192	+	Missense_Mutation	SNP	G	G	C	rs200878232	byFrequency	TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:4704192G>C	ENST00000598800.1	-	7	969	c.464C>G	c.(463-465)gCc>gGc	p.A155G	DPP9_ENST00000594671.1_Missense_Mutation_p.A155G|DPP9_ENST00000597849.1_Missense_Mutation_p.A184G|DPP9_ENST00000262960.9_Missense_Mutation_p.A184G			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	155						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GCTGTTGCTGGCCTGGAAGAG	0.672													G|||	4	0.000798722	0.0	0.0	5008	,	,		14776	0.0		0.004	False		,,,				2504	0.0					uc002mba.2		NaN																	0				skin(1)	1						c.(550-552)GCC>GGC		dipeptidylpeptidase 9		G	GLY/ALA	4,4078		0,4,2037	41.0	52.0	48.0		551	4.5	1.0	19		48	39,8341		1,37,4152	yes	missense	DPP9	NM_139159.4	60	1,41,6189	CC,CG,GG		0.4654,0.098,0.345	possibly-damaging	184/893	4704192	43,12419	2041	4190	6231	SO:0001583	missense	91039				proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity	g.chr19:4704192G>C	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.464C>G	19.37:g.4704192G>C	ENSP00000469603:p.Ala155Gly					DPP9_uc002mbb.2_Missense_Mutation_p.A184G|DPP9_uc002mbc.2_Missense_Mutation_p.A184G	p.A184G	NM_139159	NP_631898	Q86TI2	DPP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)	6	809	-		Hepatocellular(1079;0.137)	155					O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Missense_Mutation	SNP	ENST00000598800.1	37	c.551C>G		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.89	3.499972	0.64298	9.8E-4	0.004654	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	T	0.28255	1.62	4.5	4.5	0.54988	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56934	0.2019	M	0.83012	2.62	0.80722	D	1	B;D	0.69078	0.365;0.997	P;D	0.74348	0.477;0.983	T	0.57625	-0.7779	10	0.27082	T	0.32	-29.3653	16.3448	0.83120	0.0:0.0:1.0:0.0	.	155;184	Q86TI2;Q1ZZB8	DPP9_HUMAN;.	G	263;125;184	ENSP00000262960:A184G	ENSP00000262960:A184G	A	-	2	0	DPP9	4655192	1.000000	0.71417	1.000000	0.80357	0.089000	0.18198	9.423000	0.97461	2.336000	0.79503	0.561000	0.74099	GCC		0.672	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2				3	56	0	0	0	0.004672	0	3	56		
EVI5L	115704	broad.mit.edu	37	19	7917998	7917998	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:7917998G>C	ENST00000270530.4	+	9	1210	c.1014G>C	c.(1012-1014)caG>caC	p.Q338H	EVI5L_ENST00000538904.2_Missense_Mutation_p.Q338H	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	338					negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						TCCCCCACCAGTTCGACAGCT	0.617											OREG0025211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002min.2		NaN																	0				ovary(1)	1						c.(1012-1014)CAG>CAC		ecotropic viral integration site 5-like isoform							124.0	124.0	124.0					19																	7917998		2203	4300	6503	SO:0001583	missense	115704					intracellular	protein binding|Rab GTPase activator activity	g.chr19:7917998G>C	BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.1014G>C	19.37:g.7917998G>C	ENSP00000270530:p.Gln338His		OREG0025211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	645	EVI5L_uc010xjz.1_Missense_Mutation_p.Q338H|EVI5L_uc002mio.1_Missense_Mutation_p.Q69H	p.Q338H	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN			9	1168	+			338					B9A6I9	Missense_Mutation	SNP	ENST00000270530.4	37	c.1014G>C	CCDS12188.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777530	0.70107	.	.	ENSG00000142459	ENST00000270530;ENST00000538904	T;T	0.21734	1.99;1.99	3.8	3.8	0.43715	Rab-GAP/TBC domain (1);	0.000000	0.85682	D	0.000000	T	0.40322	0.1112	L	0.57536	1.79	0.50632	D	0.999888	D;D	0.89917	1.0;0.994	D;P	0.74674	0.984;0.827	T	0.22312	-1.0220	10	0.51188	T	0.08	-36.0741	13.5149	0.61535	0.0:0.0:1.0:0.0	.	338;338	B9A6I9;Q96CN4	.;EVI5L_HUMAN	H	338	ENSP00000270530:Q338H;ENSP00000445905:Q338H	ENSP00000270530:Q338H	Q	+	3	2	EVI5L	7823998	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.479000	0.66813	2.124000	0.65301	0.462000	0.41574	CAG		0.617	EVI5L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461347.1		NM_145245		7	161	0	0	0	0.004482	0	7	161		
SLC7A9	11136	broad.mit.edu	37	19	33355033	33355033	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:33355033G>A	ENST00000023064.4	-	4	638	c.447C>T	c.(445-447)atC>atT	p.I149I	SLC7A9_ENST00000587772.1_Silent_p.I149I|SLC7A9_ENST00000590341.1_Silent_p.I149I|RN7SKP22_ENST00000365097.1_RNA	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	149					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	ATTTCACAACGATTTGAGGAG	0.597																																					GBM(181;1335 2108 9644 44178 46689)	uc002ntv.3		NaN																	0				skin(1)	1						c.(445-447)ATC>ATT		solute carrier family 7, member 9	L-Cystine(DB00138)						79.0	65.0	70.0					19																	33355033		2203	4300	6503	SO:0001819	synonymous_variant	11136				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr19:33355033G>A	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.447C>T	19.37:g.33355033G>A						SLC7A9_uc002ntt.3_RNA|SLC7A9_uc002ntu.3_Silent_p.I149I|SLC7A9_uc002ntw.3_5'UTR	p.I149I	NM_001126335	NP_001119807	P82251	BAT1_HUMAN			4	564	-	Esophageal squamous(110;0.137)		149			Helical; (Potential).		B2R9A6	Silent	SNP	ENST00000023064.4	37	c.447C>T	CCDS12425.1																																																																																				0.597	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1				4	52	0	0	0	0.00308	0	4	52		
USF2	7392	broad.mit.edu	37	19	35769607	35769607	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:35769607G>A	ENST00000222305.3	+	8	771	c.734G>A	c.(733-735)cGg>cAg	p.R245Q	USF2_ENST00000379134.3_Missense_Mutation_p.R114Q|USF2_ENST00000600341.1_3'UTR|HAMP_ENST00000598398.1_5'Flank|USF2_ENST00000594064.1_Missense_Mutation_p.R243Q|USF2_ENST00000595068.1_Missense_Mutation_p.R245Q|USF2_ENST00000343550.5_Missense_Mutation_p.R178Q	NM_003367.2	NP_003358.1	Q15853	USF2_HUMAN	upstream transcription factor 2, c-fos interacting	245	Poly-Arg.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				lactation (GO:0007595)|late viral transcription (GO:0019086)|lipid homeostasis (GO:0055088)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|regulation of transcription from RNA polymerase II promoter by glucose (GO:0000430)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|double-stranded DNA binding (GO:0003690)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCAGTGGAGCGGAGGCGGAGG	0.597																																					NSCLC(103;173 2832 8890)	uc002nyq.1		NaN																	0					0						c.(733-735)CGG>CAG		upstream stimulatory factor 2 isoform 1							190.0	183.0	186.0					19																	35769607		2203	4300	6503	SO:0001583	missense	7392				lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:35769607G>A	AY007087	CCDS12452.1, CCDS12453.1	19q13	2013-05-21				ENSG00000105698		"""Basic helix-loop-helix proteins"""	12594	protein-coding gene	gene with protein product		600390				8954795	Standard	NM_003367		Approved	FIP, bHLHb12	uc002nyq.1	Q15853		ENST00000222305.3:c.734G>A	19.37:g.35769607G>A	ENSP00000222305:p.Arg245Gln					USF2_uc010xss.1_Missense_Mutation_p.R245Q|USF2_uc002nyr.1_Missense_Mutation_p.R178Q|USF2_uc002nys.1_Missense_Mutation_p.R47Q|USF2_uc002nyt.1_Missense_Mutation_p.R114Q|USF2_uc002nyu.1_Missense_Mutation_p.R47Q|USF2_uc002nyv.1_Missense_Mutation_p.R47Q	p.R245Q	NM_003367	NP_003358	Q15853	USF2_HUMAN	Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		8	843	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		245			Poly-Arg.|Basic motif.		O00671|O00709|Q05750|Q07952|Q15851|Q15852|Q6FI33|Q6YI47	Missense_Mutation	SNP	ENST00000222305.3	37	c.734G>A	CCDS12452.1	.	.	.	.	.	.	.	.	.	.	G	35	5.444082	0.96187	.	.	ENSG00000105698	ENST00000222305;ENST00000343550;ENST00000379134	D;D;D	0.98926	-5.24;-5.24;-5.24	5.44	4.41	0.53225	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.98991	0.9656	M	0.83118	2.625	0.54753	D	0.999984	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.998;1.0;1.0;0.995	D	0.99698	1.1003	10	0.87932	D	0	.	12.0576	0.53544	0.0823:0.0:0.9177:0.0	.	243;245;114;178;245	B4DLJ1;Q15853-2;Q6YI47;Q15853-3;Q15853	.;.;.;.;USF2_HUMAN	Q	245;178;114	ENSP00000222305:R245Q;ENSP00000340633:R178Q;ENSP00000368429:R114Q	ENSP00000222305:R245Q	R	+	2	0	USF2	40461447	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.228000	0.95250	1.542000	0.49330	0.655000	0.94253	CGG		0.597	USF2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466056.1		NM_003367		29	162	0	0	0	0.012213	0	29	162		
LGALS7B	653499	broad.mit.edu	37	19	39281455	39281455	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:39281455G>A	ENST00000314980.4	+	3	238	c.222G>A	c.(220-222)gaG>gaA	p.E74E		NM_001042507.3	NP_001035972.1	P47929	LEG7_HUMAN	lectin, galactoside-binding, soluble, 7B	74	Beta-galactoside binding. {ECO:0000255}.|Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|heterophilic cell-cell adhesion (GO:0007157)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carbohydrate binding (GO:0030246)										GCCGCGAGGAGCGCGGGCCGG	0.677																																						uc002ojf.3		NaN																	0					0						c.(220-222)GAG>GAA		galectin-7B							12.0	13.0	13.0					19																	39281455		2122	4201	6323	SO:0001819	synonymous_variant	653499				apoptosis|heterophilic cell-cell adhesion	cytoplasm|extracellular space|nucleus	sugar binding	g.chr19:39281455G>A		CCDS42565.1	19q13.2	2011-08-04			ENSG00000178934	ENSG00000178934		"""Lectins, galactoside-binding"""	34447	protein-coding gene	gene with protein product	"""galectin 7B"""						Standard	NM_001042507		Approved	GAL7	uc002ojf.4	P47929		ENST00000314980.4:c.222G>A	19.37:g.39281455G>A							p.E74E	NM_001042507	NP_001035972	P47929	LEG7_HUMAN			3	239	+			74			Galectin.|Beta-galactoside binding (Potential).		Q6IB87	Silent	SNP	ENST00000314980.4	37	c.222G>A	CCDS42565.1																																																																																				0.677	LGALS7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462638.1				3	19	0	0	0	0.014758	0	3	19		
CEACAM5	1048	broad.mit.edu	37	19	42224859	42224859	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:42224859A>T	ENST00000221992.6	+	8	1903	c.1789A>T	c.(1789-1791)Atc>Ttc	p.I597F	CEACAM5_ENST00000405816.1_Missense_Mutation_p.I597F|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.I596F	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	597	Ig-like 7.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GGACACCCCCATCATTTCCCC	0.552																																						uc002ork.2		NaN																	0				skin(2)	2						c.(1789-1791)ATC>TTC		carcinoembryonic antigen-related cell adhesion							135.0	140.0	138.0					19																	42224859		2203	4300	6503	SO:0001583	missense	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42224859A>T	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1789A>T	19.37:g.42224859A>T	ENSP00000221992:p.Ile597Phe					CEACAM5_uc002orj.1_Missense_Mutation_p.I596F|CEACAM5_uc002orl.2_Missense_Mutation_p.I597F	p.I597F	NM_004363	NP_004354	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	8	1910	+			597			Ig-like 7.		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	c.1789A>T	CCDS12584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.770|9.770	1.172333|1.172333	0.21704|0.21704	.|.	.|.	ENSG00000105388|ENSG00000105388	ENST00000398599|ENST00000221992;ENST00000405816;ENST00000378181	.|T;T	.|0.12984	.|2.63;2.63	2.17|2.17	-1.71|-1.71	0.08133|0.08133	.|Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.22126|0.22126	0.0533|0.0533	M|M	0.71581|0.71581	2.175|2.175	0.09310|0.09310	N|N	1|1	.|P;P	.|0.51449	.|0.945;0.842	.|P;P	.|0.55455	.|0.776;0.771	T|T	0.12682|0.12682	-1.0538|-1.0538	5|9	.|0.66056	.|D	.|0.02	.|.	2.2488|2.2488	0.04038|0.04038	0.4529:0.0:0.3139:0.2331|0.4529:0.0:0.3139:0.2331	.|.	.|597;597	.|P06731;Q53G30	.|CEAM5_HUMAN;.	L|F	592|597;597;315	.|ENSP00000221992:I597F;ENSP00000385072:I597F	.|ENSP00000221992:I597F	H|I	+|+	2|1	0|0	CEACAM5|CEACAM5	46916699|46916699	0.004000|0.004000	0.15560|0.15560	0.000000|0.000000	0.03702|0.03702	0.016000|0.016000	0.09150|0.09150	0.983000|0.983000	0.29552|0.29552	-0.570000|-0.570000	0.06022|0.06022	0.383000|0.383000	0.25322|0.25322	CAT|ATC		0.552	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2		NM_004363		27	157	0	0	0	0.008361	0	27	157		
PSG1	5669	broad.mit.edu	37	19	43372318	43372318	+	Missense_Mutation	SNP	A	A	G	rs1058795	byFrequency	TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:43372318A>G	ENST00000436291.2	-	5	1294	c.1178T>C	c.(1177-1179)gTt>gCt	p.V393A	PSG1_ENST00000403380.3_Missense_Mutation_p.V300A|PSG1_ENST00000595356.1_Missense_Mutation_p.V393A|PSG1_ENST00000595124.1_Missense_Mutation_p.V300A|PSG1_ENST00000312439.6_Missense_Mutation_p.V393A|PSG1_ENST00000244296.2_Missense_Mutation_p.V393A	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	393	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				AACAGAGCAAACATAGAGCCC	0.458													.|||	2	0.000399361	0.0008	0.0	5008	,	,		19000	0.001		0.0	False		,,,				2504	0.0					uc002ovb.2		NaN																	0				ovary(2)	2						c.(1177-1179)GTT>GCT		pregnancy specific beta-1-glycoprotein 1		A	ALA/VAL,ALA/VAL,ALA/VAL	1,4403		0,1,2201	203.0	206.0	205.0		1178,1178,1178	-3.0	0.0	19	dbSNP_86	205	3,8593		0,3,4295	no	missense,missense,missense	PSG1	NM_001184825.1,NM_001184826.1,NM_006905.2	64,64,64	0,4,6496	GG,GA,AA		0.0349,0.0227,0.0308	,,	393/420,393/418,393/427	43372318	4,12996	2202	4298	6500	SO:0001583	missense	5669				female pregnancy	extracellular region		g.chr19:43372318A>G		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.1178T>C	19.37:g.43372318A>G	ENSP00000413041:p.Val393Ala					PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_Intron|PSG1_uc002our.1_Missense_Mutation_p.V393A|PSG1_uc010eio.1_Missense_Mutation_p.V393A|PSG1_uc002oux.1_Missense_Mutation_p.V322A|PSG1_uc002ouy.1_Missense_Mutation_p.V300A|PSG1_uc002ouz.1_Missense_Mutation_p.V393A|PSG1_uc002ova.1_Missense_Mutation_p.V300A|PSG1_uc002ovc.2_Missense_Mutation_p.V300A|PSG1_uc002ovd.1_Missense_Mutation_p.V393A	p.V393A	NM_006905	NP_008836	P11464	PSG1_HUMAN			5	1316	-		Prostate(69;0.00682)	393			Ig-like C2-type 3.		O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	ENST00000436291.2	37	c.1178T>C	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	0.001	-2.890596	0.00060	2.27E-4	3.49E-4	ENSG00000231924	ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	1.51	-3.02	0.05446	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03783	0.0107	N	0.16567	0.415	0.09310	N	1	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.06405	0.001;0.001;0.001;0.001;0.001;0.002;0.002	T	0.43114	-0.9411	9	0.02654	T	1	.	0.553	0.00666	0.3393:0.1796:0.3032:0.1779	rs1058795	393;300;393;300;393;300;265	P11464-4;G5E9F7;P11464;Q8NBY8;P11464-3;Q9UPK8;B4DTG5	.;.;PSG1_HUMAN;.;.;.;.	A	393;300;393;393	ENSP00000413041:V393A;ENSP00000385386:V300A;ENSP00000308970:V393A;ENSP00000244296:V393A	ENSP00000244296:V393A	V	-	2	0	PSG1	48064158	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.213000	0.02991	-3.027000	0.00267	-1.266000	0.01441	GTT		0.458	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1				28	258	0	0	0	0.009535	0	28	258		
PSG1	5669	broad.mit.edu	37	19	43372335	43372335	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:43372335C>A	ENST00000436291.2	-	5	1277	c.1161G>T	c.(1159-1161)aaG>aaT	p.K387N	PSG1_ENST00000403380.3_Missense_Mutation_p.K294N|PSG1_ENST00000595356.1_Missense_Mutation_p.K387N|PSG1_ENST00000595124.1_Missense_Mutation_p.K294N|PSG1_ENST00000312439.6_Missense_Mutation_p.K387N|PSG1_ENST00000244296.2_Missense_Mutation_p.K387N	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	387	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GCCCGCTATGCTTTGTAGTAA	0.463																																						uc002ovb.2		NaN																	0				ovary(2)	2						c.(1159-1161)AAG>AAT		pregnancy specific beta-1-glycoprotein 1							194.0	201.0	198.0					19																	43372335		2202	4298	6500	SO:0001583	missense	5669				female pregnancy	extracellular region		g.chr19:43372335C>A		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.1161G>T	19.37:g.43372335C>A	ENSP00000413041:p.Lys387Asn					PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_Intron|PSG1_uc002our.1_Missense_Mutation_p.K387N|PSG1_uc010eio.1_Missense_Mutation_p.K387N|PSG1_uc002oux.1_Missense_Mutation_p.K316N|PSG1_uc002ouy.1_Missense_Mutation_p.K294N|PSG1_uc002ouz.1_Missense_Mutation_p.K387N|PSG1_uc002ova.1_Missense_Mutation_p.K294N|PSG1_uc002ovc.2_Missense_Mutation_p.K294N|PSG1_uc002ovd.1_Missense_Mutation_p.K387N	p.K387N	NM_006905	NP_008836	P11464	PSG1_HUMAN			5	1299	-		Prostate(69;0.00682)	387			Ig-like C2-type 3.		O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	ENST00000436291.2	37	c.1161G>T	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	0.011	-1.721006	0.00700	.	.	ENSG00000231924	ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	T;T;T;T	0.12465	2.68;2.68;2.68;2.68	1.63	0.45	0.16624	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.07188	0.0182	N	0.21240	0.645	0.09310	N	1	B;B;B;B;B;B;B	0.14438	0.0;0.001;0.001;0.0;0.0;0.0;0.01	B;B;B;B;B;B;B	0.27170	0.003;0.012;0.011;0.016;0.003;0.008;0.077	T	0.45264	-0.9273	9	0.06236	T	0.91	.	4.3454	0.11131	0.6286:0.3714:0.0:0.0	.	387;294;387;294;387;294;259	P11464-4;G5E9F7;P11464;Q8NBY8;P11464-3;Q9UPK8;B4DTG5	.;.;PSG1_HUMAN;.;.;.;.	N	387;294;387;387	ENSP00000413041:K387N;ENSP00000385386:K294N;ENSP00000308970:K387N;ENSP00000244296:K387N	ENSP00000244296:K387N	K	-	3	2	PSG1	48064175	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.434000	0.06939	-0.109000	0.12044	0.195000	0.17529	AAG		0.463	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1				31	254	1	0	5.8336e-16	0.015359	6.64588e-16	31	254		
SLC17A7	57030	broad.mit.edu	37	19	49934671	49934671	+	Silent	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:49934671G>C	ENST00000221485.3	-	10	1356	c.1185C>G	c.(1183-1185)gtC>gtG	p.V395V	SLC17A7_ENST00000543531.1_Silent_p.V383V|SLC17A7_ENST00000600601.1_Silent_p.V328V	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	395					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GCGAGTAGCCGACCACCAACA	0.682																																						uc002pnp.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1183-1185)GTC>GTG		solute carrier family 17, member 7							39.0	39.0	39.0					19																	49934671		2203	4300	6503	SO:0001819	synonymous_variant	57030				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	g.chr19:49934671G>C	AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.1185C>G	19.37:g.49934671G>C						SLC17A7_uc002pno.2_Intron	p.V395V	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	10	1357	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	395			Helical; (Potential).		B4DFR9|B4DG46|Q6PCD0	Silent	SNP	ENST00000221485.3	37	c.1185C>G	CCDS12764.1																																																																																				0.682	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2				10	45	0	0	0	0.006214	0	10	45		
ALDH16A1	126133	broad.mit.edu	37	19	49965942	49965942	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:49965942G>T	ENST00000293350.4	+	8	1191	c.1028G>T	c.(1027-1029)gGg>gTg	p.G343V	ALDH16A1_ENST00000540132.1_Missense_Mutation_p.G180V|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.G292V|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.G178V|CTD-3148I10.9_ENST00000599536.1_5'Flank	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	343						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GTGGACATGGGGGCCCGGGGG	0.672																																						uc002pnt.2		NaN																	0				skin(1)	1						c.(1027-1029)GGG>GTG		aldehyde dehydrogenase 16 family, member A1							26.0	29.0	28.0					19																	49965942		2203	4298	6501	SO:0001583	missense	126133						oxidoreductase activity|protein binding	g.chr19:49965942G>T	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.1028G>T	19.37:g.49965942G>T	ENSP00000293350:p.Gly343Val					ALDH16A1_uc010yar.1_Missense_Mutation_p.G292V|ALDH16A1_uc010yas.1_Missense_Mutation_p.G178V|ALDH16A1_uc010yat.1_Missense_Mutation_p.G180V	p.G343V	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)	8	1144	+		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	343					B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Missense_Mutation	SNP	ENST00000293350.4	37	c.1028G>T	CCDS12766.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026088	0.75390	.	.	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63	5.03	5.03	0.67393	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.146595	0.64402	D	0.000008	D	0.96608	0.8893	H	0.95224	3.64	0.58432	D	0.999999	D;D;D	0.89917	0.997;1.0;0.997	D;D;D	0.97110	0.918;1.0;0.921	D	0.97451	1.0028	10	0.87932	D	0	-13.8495	14.2903	0.66273	0.0:0.0:1.0:0.0	.	180;292;343	F5H4B6;B4DLQ1;Q8IZ83	.;.;A16A1_HUMAN	V	343;292;180;178	ENSP00000293350:G343V;ENSP00000410142:G292V;ENSP00000445088:G180V;ENSP00000398675:G178V	ENSP00000293350:G343V	G	+	2	0	ALDH16A1	54657754	1.000000	0.71417	0.995000	0.50966	0.873000	0.50193	4.830000	0.62745	2.532000	0.85374	0.485000	0.47835	GGG		0.672	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1		NM_153329		9	40	1	0	3.86212e-05	0.008291	4.15447e-05	9	40		
AP2A1	160	broad.mit.edu	37	19	50303343	50303343	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:50303343G>A	ENST00000359032.5	+	11	1391	c.1391G>A	c.(1390-1392)cGt>cAt	p.R464H	AP2A1_ENST00000354293.5_Missense_Mutation_p.R464H	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	464					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		GTGTGGTACCGTGTGCTACAG	0.592																																						uc002ppn.2		NaN																	0				ovary(2)	2						c.(1390-1392)CGT>CAT		adaptor-related protein complex 2, alpha 1							90.0	100.0	96.0					19																	50303343		2164	4244	6408	SO:0001583	missense	160				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity	g.chr19:50303343G>A	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.1391G>A	19.37:g.50303343G>A	ENSP00000351926:p.Arg464His					AP2A1_uc010enj.1_Intron|AP2A1_uc002ppo.2_Missense_Mutation_p.R464H|AP2A1_uc002ppp.1_5'Flank	p.R464H	NM_014203	NP_055018	O95782	AP2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)	11	1602	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	464					Q96CI7|Q96PP6|Q96PP7|Q9H070	Missense_Mutation	SNP	ENST00000359032.5	37	c.1391G>A	CCDS46148.1	.	.	.	.	.	.	.	.	.	.	G	33	5.247212	0.95305	.	.	ENSG00000196961	ENST00000354293;ENST00000359032	T;T	0.37752	1.18;1.18	4.65	4.65	0.58169	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64681	0.2620	M	0.86097	2.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.71300	-0.4634	10	0.66056	D	0.02	.	16.4522	0.83994	0.0:0.0:1.0:0.0	.	464;464	O95782-2;O95782	.;AP2A1_HUMAN	H	464	ENSP00000346246:R464H;ENSP00000351926:R464H	ENSP00000346246:R464H	R	+	2	0	AP2A1	54995155	1.000000	0.71417	0.955000	0.39395	0.975000	0.68041	9.575000	0.98187	2.400000	0.81607	0.462000	0.41574	CGT		0.592	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1				5	17	0	0	0	0.014758	0	5	17		
ZNF473	25888	broad.mit.edu	37	19	50549435	50549435	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:50549435C>G	ENST00000595661.1	+	6	2230	c.1735C>G	c.(1735-1737)Cag>Gag	p.Q579E	ZNF473_ENST00000270617.3_Missense_Mutation_p.Q579E|ZNF473_ENST00000445728.3_Missense_Mutation_p.Q567E|ZNF473_ENST00000391821.2_Missense_Mutation_p.Q579E|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	579					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		ATACCTAACTCAGCACGAGAG	0.453																																						uc002prn.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1735-1737)CAG>GAG		zinc finger protein 473							45.0	42.0	43.0					19																	50549435		2203	4300	6503	SO:0001583	missense	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50549435C>G	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.1735C>G	19.37:g.50549435C>G	ENSP00000472808:p.Gln579Glu					ZNF473_uc002prm.2_Missense_Mutation_p.Q579E|ZNF473_uc010ybo.1_Missense_Mutation_p.Q567E	p.Q579E	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	5	1972	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	579			C2H2-type 11.		A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	c.1735C>G	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	C	6.475	0.455843	0.12283	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.16324	2.35;2.35;2.35	4.31	4.31	0.51392	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41097	D	0.000945	T	0.16171	0.0389	N	0.17631	0.505	0.22500	N	0.999044	D	0.61697	0.99	P	0.61722	0.893	T	0.17289	-1.0374	10	0.02654	T	1	-30.3677	8.3406	0.32241	0.0:0.8958:0.0:0.1042	.	579	Q8WTR7	ZN473_HUMAN	E	579;579;567	ENSP00000270617:Q579E;ENSP00000375697:Q579E;ENSP00000388961:Q567E	ENSP00000270617:Q579E	Q	+	1	0	ZNF473	55241247	0.000000	0.05858	0.949000	0.38748	0.083000	0.17756	-2.065000	0.01386	2.686000	0.91538	0.609000	0.83330	CAG		0.453	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1		XM_046390		7	44	0	0	0	0.001984	0	7	44		
ZNF577	84765	broad.mit.edu	37	19	52376173	52376173	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:52376173C>G	ENST00000301399.5	-	7	1435	c.1070G>C	c.(1069-1071)aGa>aCa	p.R357T	ZNF577_ENST00000451628.2_Missense_Mutation_p.R298T|ZNF577_ENST00000420592.1_Missense_Mutation_p.R298T|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000485702.1_Intron	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	357			R -> S (in dbSNP:rs9807853).		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)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCCACATTCTCTGCATGAATA	0.428																																						uc010yde.1		NaN																	0				ovary(1)	1						c.(1069-1071)AGA>ACA		zinc finger protein 577 isoform a							77.0	74.0	75.0					19																	52376173		2203	4300	6503	SO:0001583	missense	84765				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52376173C>G	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"""Zinc fingers, C2H2-type"", ""-"""	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.1070G>C	19.37:g.52376173C>G	ENSP00000301399:p.Arg357Thr					ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.3_Missense_Mutation_p.R298T|ZNF577_uc002pxv.2_Missense_Mutation_p.R350T|ZNF577_uc002pxw.2_Missense_Mutation_p.R291T	p.R357T	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	7	1461	-		all_neural(266;0.0602)	357			C2H2-type 8.		A8K0B4|A8K6Z7|C9JFB9	Missense_Mutation	SNP	ENST00000301399.5	37	c.1070G>C	CCDS12842.2	.	.	.	.	.	.	.	.	.	.	.	4.579	0.107568	0.08780	.	.	ENSG00000161551	ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390	T;T;T;T	0.14640	2.49;2.49;2.49;2.49	2.95	0.664	0.17890	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03827	0.0108	N	0.01522	-0.82	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.0;0.004	T	0.39881	-0.9592	9	0.32370	T	0.25	.	1.9794	0.03423	0.1919:0.3074:0.3755:0.1252	.	357;298	Q9BSK1;Q9BSK1-2	ZN577_HUMAN;.	T	357;298;298;357	ENSP00000301399:R357T;ENSP00000413476:R298T;ENSP00000389652:R298T;ENSP00000404509:R357T	ENSP00000301399:R357T	R	-	2	0	ZNF577	57067985	0.000000	0.05858	0.090000	0.20809	0.467000	0.32768	-0.726000	0.04936	0.493000	0.27837	0.655000	0.94253	AGA		0.428	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1		NM_032679		4	83	0	0	0	0.009096	0	4	83		
ZNF836	162962	broad.mit.edu	37	19	52658463	52658463	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:52658463G>A	ENST00000322146.8	-	5	2994	c.2473C>T	c.(2473-2475)Cag>Tag	p.Q825*	ZNF836_ENST00000597252.1_Nonsense_Mutation_p.Q825*|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	825					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(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGCATTTTCTGATGATTAACC	0.398																																						uc010ydi.1		NaN																	0					0						c.(2473-2475)CAG>TAG		zinc finger protein 836							142.0	152.0	149.0					19																	52658463		2190	4296	6486	SO:0001587	stop_gained	162962				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52658463G>A	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.2473C>T	19.37:g.52658463G>A	ENSP00000325038:p.Gln825*					ZNF836_uc010ydj.1_Nonsense_Mutation_p.Q825*	p.Q825*	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN			5	2847	-			825			C2H2-type 22.			Nonsense_Mutation	SNP	ENST00000322146.8	37	c.2473C>T	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	G	40	8.308530	0.98752	.	.	ENSG00000196267	ENST00000322146	.	.	.	1.9	0.587	0.17439	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	8.5152	0.33242	0.0:0.0:0.7708:0.2291	.	.	.	.	X	825	.	ENSP00000325038:Q825X	Q	-	1	0	ZNF836	57350275	0.000000	0.05858	0.005000	0.12908	0.219000	0.24729	-0.187000	0.09656	1.049000	0.40321	0.484000	0.47621	CAG		0.398	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1		NM_001102657		26	132	0	0	0	0.00632	0	26	132		
ZNF761	388561	broad.mit.edu	37	19	53958025	53958025	+	RNA	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:53958025G>A	ENST00000454407.1	+	0	717							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TTTGCTACCAGGATGTTGATA	0.388																																						uc010eqp.2		NaN																	0				ovary(1)	1						c.(262-264)CAG>CAA		zinc finger protein 761							82.0	81.0	81.0					19																	53958025		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958025G>A	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958025G>A						ZNF761_uc010ydy.1_Silent_p.Q34Q|ZNF761_uc002qbt.1_Silent_p.Q34Q	p.Q88Q	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	7	722	+			88					Q6ZNB9	Silent	SNP	ENST00000454407.1	37	c.264G>A																																																																																					0.388	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript			NM_001008401		14	53	0	0	0	0.016723	0	14	53		
ISOC2	79763	broad.mit.edu	37	19	55967807	55967807	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:55967807G>C	ENST00000425675.2	-	2	107	c.47C>G	c.(46-48)tCt>tGt	p.S16C	ISOC2_ENST00000438389.2_Missense_Mutation_p.S16C|ISOC2_ENST00000085068.3_Missense_Mutation_p.S16C			Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2	16					protein destabilization (GO:0031648)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		GAACAGGACAGAGGATCCTGG	0.627																																						uc002qlb.2		NaN																	0				ovary(1)	1						c.(46-48)TCT>TGT		isochorismatase domain containing 2 isoform 1							135.0	112.0	119.0					19																	55967807		2203	4300	6503	SO:0001583	missense	79763				protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding	g.chr19:55967807G>C	AK027122	CCDS12925.1, CCDS46194.1, CCDS46195.1	19q13.42	2011-07-14			ENSG00000063241	ENSG00000063241			26278	protein-coding gene	gene with protein product		612928				17658461	Standard	NM_024710		Approved	FLJ23469	uc002qla.3	Q96AB3		ENST00000425675.2:c.47C>G	19.37:g.55967807G>C	ENSP00000401726:p.Ser16Cys					ISOC2_uc002qla.2_Missense_Mutation_p.S16C|ISOC2_uc002qlc.2_Missense_Mutation_p.S16C	p.S16C	NM_001136201	NP_001129673	Q96AB3	ISOC2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)	2	221	-	Breast(117;0.155)		16					Q6ZN91|Q9H5G0	Missense_Mutation	SNP	ENST00000425675.2	37	c.47C>G	CCDS46195.1	.	.	.	.	.	.	.	.	.	.	G	7.984	0.751916	0.15778	.	.	ENSG00000063241	ENST00000085068;ENST00000425675;ENST00000438389	.	.	.	4.09	4.09	0.47781	Isochorismatase-like (2);	0.156736	0.42548	D	0.000700	T	0.68165	0.2971	M	0.64676	1.99	0.49299	D	0.99977	D;B;B	0.71674	0.998;0.436;0.196	P;B;B	0.62740	0.906;0.209;0.067	T	0.71497	-0.4575	9	0.87932	D	0	-34.4436	10.293	0.43608	0.0:0.2018:0.7982:0.0	.	16;16;16	Q96AB3-3;Q96AB3;Q96AB3-2	.;ISOC2_HUMAN;.	C	16	.	ENSP00000085068:S16C	S	-	2	0	ISOC2	60659619	0.841000	0.29509	0.456000	0.27044	0.155000	0.21991	3.205000	0.51090	1.992000	0.58205	0.484000	0.47621	TCT		0.627	ISOC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453179.1		NM_024710		10	80	0	0	0	0.008291	0	10	80		
MYT1L	23040	broad.mit.edu	37	2	1812936	1812936	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:1812936C>A	ENST00000399161.2	-	22	3831	c.3084G>T	c.(3082-3084)ttG>ttT	p.L1028F	MYT1L_ENST00000407844.1_Missense_Mutation_p.L24F|MYT1L_ENST00000428368.2_Missense_Mutation_p.L1026F	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1028					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGCATCCTGACAAGCTGTGGA	0.542																																						uc002qxe.2		NaN																	0				ovary(5)|central_nervous_system(1)	6						c.(3082-3084)TTG>TTT		myelin transcription factor 1-like							101.0	103.0	102.0					2																	1812936		2111	4231	6342	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1812936C>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.3084G>T	2.37:g.1812936C>A	ENSP00000382114:p.Leu1028Phe					MYT1L_uc002qxd.2_Missense_Mutation_p.L1026F|MYT1L_uc010ewk.2_Missense_Mutation_p.L24F	p.L1028F	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	22	3911	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	1028			C2HC-type 6.		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.3084G>T		.	.	.	.	.	.	.	.	.	.	C	11.20	1.569076	0.28003	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000407844;ENST00000399157;ENST00000428368	T;T	0.59083	0.3;0.29	5.24	2.05	0.26809	.	0.080574	0.49305	D	0.000152	T	0.53174	0.1780	M	0.71581	2.175	0.54753	D	0.999986	B;B;B	0.31227	0.005;0.314;0.268	B;B;B	0.36244	0.005;0.22;0.14	T	0.57562	-0.7790	10	0.87932	D	0	-7.3619	4.4991	0.11855	0.0:0.5145:0.1783:0.3071	.	24;1028;1026	Q9UL68-3;Q9UL68;Q9UL68-4	.;MYT1L_HUMAN;.	F	1028;974;24;82;1026	ENSP00000382114:L1028F;ENSP00000396103:L1026F	ENSP00000295067:L974F	L	-	3	2	MYT1L	1791943	0.952000	0.32445	0.999000	0.59377	0.287000	0.27160	0.009000	0.13219	1.205000	0.43262	-0.140000	0.14226	TTG		0.542	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1		NM_015025		8	79	1	0	2.74318e-10	0.006214	3.07327e-10	8	79		
ROCK2	9475	broad.mit.edu	37	2	11348013	11348013	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:11348013T>C	ENST00000315872.6	-	20	2836	c.2388A>G	c.(2386-2388)atA>atG	p.I796M	ROCK2_ENST00000401753.1_Missense_Mutation_p.I553M	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	796					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TTTCTTGCTCTATTTTTAATG	0.308																																						uc002rbd.1		NaN																	0				stomach(2)|skin(2)	4						c.(2386-2388)ATA>ATG		Rho-associated, coiled-coil containing protein							175.0	154.0	160.0					2																	11348013		1816	4087	5903	SO:0001583	missense	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11348013T>C	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.2388A>G	2.37:g.11348013T>C	ENSP00000317985:p.Ile796Met						p.I796M	NM_004850	NP_004841	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	20	2837	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		796			Potential.		Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	c.2388A>G	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	T	14.08	2.427752	0.43122	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	T;T	0.64085	-0.08;1.0	5.51	5.51	0.81932	.	0.089806	0.85682	D	0.000000	T	0.52917	0.1764	L	0.40543	1.245	0.51233	D	0.999914	P	0.40376	0.715	B	0.34824	0.19	T	0.57934	-0.7725	10	0.51188	T	0.08	.	15.6344	0.76941	0.0:0.0:0.0:1.0	.	796	O75116	ROCK2_HUMAN	M	796;553;154	ENSP00000317985:I796M;ENSP00000385509:I553M	ENSP00000317985:I796M	I	-	3	3	ROCK2	11265464	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	0.313000	0.19415	2.105000	0.64084	0.533000	0.62120	ATA		0.308	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3				5	78	0	0	0	0.001168	0	5	78		
OTOF	9381	broad.mit.edu	37	2	26750716	26750716	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:26750716T>C	ENST00000272371.2	-	3	337	c.211A>G	c.(211-213)Aaa>Gaa	p.K71E	OTOF_ENST00000403946.3_Missense_Mutation_p.K71E	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	71					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGAAGACTTTGCTGTAGTTG	0.582																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.2		NaN																	0				ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(211-213)AAA>GAA		otoferlin isoform a							108.0	109.0	109.0					2																	26750716		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26750716T>C	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.211A>G	2.37:g.26750716T>C	ENSP00000272371:p.Lys71Glu						p.K71E	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			3	338	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		71			Cytoplasmic (Potential).		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.211A>G	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.436197	0.83885	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.71817	-0.6;-0.6	5.4	5.4	0.78164	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.81361	0.4806	M	0.68952	2.095	0.54753	D	0.999984	D	0.60575	0.988	D	0.71414	0.973	T	0.81780	-0.0776	10	0.46703	T	0.11	-16.956	13.3812	0.60768	0.0:0.0:0.0:1.0	.	71	Q9HC10	OTOF_HUMAN	E	71	ENSP00000272371:K71E;ENSP00000385255:K71E	ENSP00000272371:K71E	K	-	1	0	OTOF	26604220	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.138000	0.71717	2.045000	0.60652	0.459000	0.35465	AAA		0.582	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3				7	64	0	0	0	0.00308	0	7	64		
RBKS	64080	broad.mit.edu	37	2	28081337	28081337	+	Missense_Mutation	SNP	C	C	T	rs561623263		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:28081337C>T	ENST00000302188.3	-	2	943	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	RBKS_ENST00000444339.2_Missense_Mutation_p.R64Q	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	64					D-ribose catabolic process (GO:0019303)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ribokinase activity (GO:0004747)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					TGCTCCAAGCCGAGCAGCTTG	0.438																																						uc002rlo.1		NaN																	0				ovary(1)|skin(1)	2						c.(190-192)CGG>CAG		ribokinase							107.0	97.0	100.0					2																	28081337		2203	4300	6503	SO:0001583	missense	64080				D-ribose metabolic process		ATP binding|ribokinase activity	g.chr2:28081337C>T	BC017425	CCDS1762.1	2p23.3	2008-02-05			ENSG00000171174	ENSG00000171174	2.7.1.15		30325	protein-coding gene	gene with protein product		611132				8382990	Standard	NM_022128		Approved	DKFZp686G13268, RBSK	uc002rlo.1	Q9H477	OTTHUMG00000097833	ENST00000302188.3:c.191G>A	2.37:g.28081337C>T	ENSP00000306817:p.Arg64Gln					RBKS_uc010ezi.1_5'UTR|RBKS_uc010ymg.1_Missense_Mutation_p.R64Q	p.R64Q	NM_022128	NP_071411	Q9H477	RBSK_HUMAN			2	202	-	Acute lymphoblastic leukemia(172;0.155)		64					A9UK04|B4DV96	Missense_Mutation	SNP	ENST00000302188.3	37	c.191G>A	CCDS1762.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909906	0.72983	.	.	ENSG00000171174	ENST00000302188;ENST00000444339	T;T	0.79141	-1.24;-1.24	5.95	5.08	0.68730	Carbohydrate/purine kinase (1);	0.161191	0.56097	D	0.000029	D	0.88262	0.6389	M	0.84511	2.7	0.35193	D	0.773522	D;D	0.89917	1.0;1.0	D;D	0.70935	0.969;0.971	D	0.93028	0.6446	10	0.72032	D	0.01	-9.1921	13.4353	0.61079	0.0:0.928:0.0:0.072	.	64;64	B4DV96;Q9H477	.;RBSK_HUMAN	Q	64	ENSP00000306817:R64Q;ENSP00000413232:R64Q	ENSP00000306817:R64Q	R	-	2	0	RBKS	27934841	0.984000	0.35163	0.091000	0.20842	0.271000	0.26615	4.624000	0.61254	1.534000	0.49203	0.655000	0.94253	CGG		0.438	RBKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215118.1		NM_022128		4	45	0	0	0	0.009096	0	4	45		
STRN	6801	broad.mit.edu	37	2	37105140	37105140	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:37105140C>G	ENST00000263918.4	-	10	1225	c.1217G>C	c.(1216-1218)gGa>gCa	p.G406A	STRN_ENST00000379213.2_Missense_Mutation_p.G357A	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	406					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				GAATGACTTTCCAGAAGAAGG	0.438																																						uc002rpn.2		NaN																	0				skin(1)	1						c.(1216-1218)GGA>GCA		striatin, calmodulin binding protein							180.0	185.0	183.0					2																	37105140		2203	4300	6503	SO:0001583	missense	6801				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	g.chr2:37105140C>G	AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"""WD repeat domain containing"""	11424	protein-coding gene	gene with protein product		614765	"""striatin, calmodulin-binding protein"""			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.1217G>C	2.37:g.37105140C>G	ENSP00000263918:p.Gly406Ala					STRN_uc010ezx.2_Missense_Mutation_p.G369A	p.G406A	NM_003162	NP_003153	O43815	STRN_HUMAN			10	1226	-		Ovarian(717;0.0129)|all_hematologic(82;0.21)	406					Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP	ENST00000263918.4	37	c.1217G>C	CCDS1784.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.816227	0.90790	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.65364	-0.15;-0.03	5.92	5.92	0.95590	WD40/YVTN repeat-like-containing domain (1);	0.100362	0.64402	D	0.000001	T	0.76659	0.4018	M	0.71581	2.175	0.80722	D	1	D;D	0.69078	0.997;0.974	D;P	0.65684	0.937;0.54	T	0.69243	-0.5196	10	0.12430	T	0.62	-13.9307	20.3081	0.98638	0.0:1.0:0.0:0.0	.	357;406	O43815-2;O43815	.;STRN_HUMAN	A	406;381;357	ENSP00000263918:G406A;ENSP00000368513:G357A	ENSP00000263918:G406A	G	-	2	0	STRN	36958644	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.478000	0.81082	2.795000	0.96236	0.655000	0.94253	GGA		0.438	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1				13	163	0	0	0	0.013537	0	13	163		
ADRA2B	151	broad.mit.edu	37	2	96781355	96781355	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:96781355G>A	ENST00000409345.3	-	1	629	c.534C>T	c.(532-534)atC>atT	p.I178I		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	178					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGAAAGATCCGATGCTGGAGG	0.637																																						uc002svi.2		NaN																	0				ovary(2)|lung(1)	3						c.(532-534)ATC>ATT		alpha-2B-adrenergic receptor	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						44.0	51.0	49.0					2																	96781355		2128	4258	6386	SO:0001819	synonymous_variant	151				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	g.chr2:96781355G>A	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.534C>T	2.37:g.96781355G>A							p.I178I	NM_000682	NP_000673	P18089	ADA2B_HUMAN			1	534	-			178			Helical; Name=5; (By similarity).		Q4TUH9|Q53RF2|Q9BZK0	Silent	SNP	ENST00000409345.3	37	c.534C>T	CCDS56129.1																																																																																				0.637	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1				3	32	0	0	0	0.004672	0	3	32		
GYPC	2995	broad.mit.edu	37	2	127447889	127447889	+	Splice_Site	SNP	T	T	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:127447889T>A	ENST00000259254.4	+	2	437		c.e2+2		GYPC_ENST00000409836.3_Intron|GYPC_ENST00000356887.7_Splice_Site|GYPC_ENST00000464053.1_Splice_Site	NM_002101.4	NP_002092.1	P04921	GLPC_HUMAN	glycophorin C (Gerbich blood group)							cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1)	13	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		CCATTGCAGGTGAGTTCTCAT	0.527																																					Melanoma(110;806 1600 6704 9981 33404)	uc002tnq.2		NaN																	0				central_nervous_system(1)	1						c.e2+2		glycophorin C isoform 1							119.0	95.0	103.0					2																	127447889		2203	4300	6503	SO:0001630	splice_region_variant	2995					cortical cytoskeleton|integral to plasma membrane	protein binding	g.chr2:127447889T>A		CCDS2136.1, CCDS46402.1, CCDS58724.1	2q14-q21	2014-07-19			ENSG00000136732	ENSG00000136732		"""CD molecules"", ""Blood group antigens"""	4704	protein-coding gene	gene with protein product		110750					Standard	NM_016815		Approved	GPC, GYPD, Ge, CD236, CD236R	uc002tnq.4	P04921	OTTHUMG00000131464	ENST00000259254.4:c.106+2T>A	2.37:g.127447889T>A						GYPC_uc002tnr.2_Intron|GYPC_uc010flv.2_Splice_Site	p.E36_splice	NM_002101	NP_002092	P04921	GLPC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.075)	2	262	+	Colorectal(110;0.0533)							B2R522|Q53SV9|Q92642	Splice_Site	SNP	ENST00000259254.4	37	c.106_splice	CCDS2136.1	.	.	.	.	.	.	.	.	.	.	T	6.858	0.527554	0.13127	.	.	ENSG00000136732	ENST00000259254;ENST00000356887	.	.	.	1.04	1.04	0.20106	.	.	.	.	.	.	.	.	.	.	.	0.31697	N	0.641196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.2663	0.10764	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GYPC	127164359	0.944000	0.32072	0.328000	0.25416	0.006000	0.05464	0.511000	0.22739	0.727000	0.32360	0.172000	0.16884	.		0.527	GYPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254297.1		NM_002101	Intron	3	41	0	0	0	0.004672	0	3	41		
LRP1B	53353	broad.mit.edu	37	2	141215109	141215109	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:141215109G>T	ENST00000389484.3	-	61	10708	c.9737C>A	c.(9736-9738)gCa>gAa	p.A3246E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3246					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)			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)		GAGTCTGTCTGCTCCCGATGT	0.423										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NaN																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(9736-9738)GCA>GAA		low density lipoprotein-related protein 1B							229.0	200.0	210.0					2																	141215109		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141215109G>T	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.9737C>A	2.37:g.141215109G>T	ENSP00000374135:p.Ala3246Glu	TSP Lung(27;0.18)					p.A3246E	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)	61	10709	-		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)	3246			Extracellular (Potential).|LDL-receptor class B 32.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.9737C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384041	0.61845	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90504	-2.68	5.46	5.46	0.80206	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.482456	0.19109	U	0.122486	T	0.79364	0.4433	N	0.17764	0.52	0.35183	D	0.772698	B	0.09022	0.002	B	0.08055	0.003	T	0.71603	-0.4543	10	0.02654	T	1	.	8.23	0.31593	0.0743:0.0:0.6589:0.2668	.	3246	Q9NZR2	LRP1B_HUMAN	E	3246;3184	ENSP00000374135:A3246E	ENSP00000374135:A3246E	A	-	2	0	LRP1B	140931579	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.423000	0.66458	2.550000	0.86006	0.655000	0.94253	GCA		0.423	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2		NM_018557		10	74	1	0	2.17888e-05	0.006214	2.35319e-05	10	74		
RIF1	55183	broad.mit.edu	37	2	152321463	152321463	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:152321463C>T	ENST00000243326.5	+	29	5912	c.5429C>T	c.(5428-5430)tCa>tTa	p.S1810L	RIF1_ENST00000444746.2_Missense_Mutation_p.S1810L|RIF1_ENST00000453091.2_Missense_Mutation_p.S1810L|RIF1_ENST00000428287.2_Missense_Mutation_p.S1810L|RIF1_ENST00000430328.2_Missense_Mutation_p.S1810L			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ATTAATGATTCATTAATTGTT	0.303																																						uc002txm.2		NaN																	0				ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15						c.(5428-5430)TCA>TTA		RAP1 interacting factor 1							60.0	68.0	65.0					2																	152321463		2200	4296	6496	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152321463C>T	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.5429C>T	2.37:g.152321463C>T	ENSP00000243326:p.Ser1810Leu					RIF1_uc002txl.2_Missense_Mutation_p.S1810L|RIF1_uc002txn.2_Missense_Mutation_p.S1810L|RIF1_uc002txo.2_Missense_Mutation_p.S1810L|RIF1_uc002txp.2_RNA	p.S1810L	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	30	5559	+			1810					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.5429C>T	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	C	9.753	1.168111	0.21621	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71	5.44	1.62	0.23740	.	0.850114	0.10545	N	0.662197	T	0.11239	0.0274	L	0.34521	1.04	0.09310	N	0.999999	B;B	0.15930	0.009;0.015	B;B	0.16722	0.007;0.016	T	0.32402	-0.9908	10	0.44086	T	0.13	-0.0028	8.5996	0.33736	0.0:0.621:0.0:0.379	.	1810;1810	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	L	1810	ENSP00000390181:S1810L;ENSP00000414615:S1810L;ENSP00000415691:S1810L;ENSP00000243326:S1810L;ENSP00000416123:S1810L	ENSP00000243326:S1810L	S	+	2	0	RIF1	152029709	0.002000	0.14202	0.005000	0.12908	0.529000	0.34654	0.557000	0.23454	0.017000	0.15025	0.585000	0.79938	TCA		0.303	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3				8	49	0	0	0	0.004482	0	8	49		
NEB	4703	broad.mit.edu	37	2	152484043	152484043	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:152484043C>G	ENST00000172853.10	-	65	9555	c.9408G>C	c.(9406-9408)caG>caC	p.Q3136H	NEB_ENST00000603639.1_Missense_Mutation_p.Q3379H|NEB_ENST00000397345.3_Missense_Mutation_p.Q3379H|NEB_ENST00000409198.1_Missense_Mutation_p.Q3136H|NEB_ENST00000427231.2_Missense_Mutation_p.Q3379H|NEB_ENST00000604864.1_Missense_Mutation_p.Q3379H			P20929	NEBU_HUMAN	nebulin	3136					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCACATCGCTCTGGAGGTCAT	0.473																																						uc010fnx.2		NaN																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(9406-9408)CAG>CAC		nebulin isoform 3							166.0	160.0	162.0					2																	152484043		1988	4166	6154	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152484043C>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.9408G>C	2.37:g.152484043C>G	ENSP00000172853:p.Gln3136His						p.Q3136H	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	65	9599	-			3136			Nebulin 85.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.9408G>C		.	.	.	.	.	.	.	.	.	.	C	22.7	4.329392	0.81690	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.58	5.58	0.84498	.	0.114194	0.64402	D	0.000013	T	0.73265	0.3565	M	0.91196	3.185	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.79541	-0.1761	10	0.87932	D	0	.	19.5796	0.95461	0.0:1.0:0.0:0.0	.	3136	P20929	NEBU_HUMAN	H	3136;3379;3379;3136	ENSP00000386259:Q3136H;ENSP00000380505:Q3379H;ENSP00000416578:Q3379H;ENSP00000172853:Q3136H	ENSP00000172853:Q3136H	Q	-	3	2	NEB	152192289	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.520000	0.45554	2.624000	0.88883	0.655000	0.94253	CAG		0.473	NEB-201	KNOWN	basic	protein_coding	protein_coding			NM_004543		8	138	0	0	0	0.006214	0	8	138		
RAPGEF4	11069	broad.mit.edu	37	2	173879313	173879313	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:173879313G>A	ENST00000397081.3	+	18	1923	c.1780G>A	c.(1780-1782)Gag>Aag	p.E594K	RAPGEF4_ENST00000539331.1_Missense_Mutation_p.E441K|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.E423K|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.E450K|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.E441K|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.E593K|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.E594K|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.E374K	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	594	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CCTCCTGCAAGAGGATGACGT	0.502																																						uc002uhv.3		NaN																	0				large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6						c.(1780-1782)GAG>AAG		Rap guanine nucleotide exchange factor (GEF) 4							77.0	76.0	76.0					2																	173879313		1968	4175	6143	SO:0001583	missense	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173879313G>A	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.1780G>A	2.37:g.173879313G>A	ENSP00000380271:p.Glu594Lys					RAPGEF4_uc002uhw.3_Missense_Mutation_p.E450K	p.E594K	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		18	1967	+			594			N-terminal Ras-GEF.		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	37	c.1780G>A	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292139	0.59976	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000535187	T;T;T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73	6.17	6.17	0.99709	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.092294	0.64402	D	0.000001	T	0.55497	0.1924	M	0.67397	2.05	0.80722	D	1	B;B	0.28636	0.082;0.218	B;B	0.35114	0.059;0.196	T	0.49113	-0.8973	10	0.40728	T	0.16	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	450;594	Q8WZA2-3;Q8WZA2	.;RPGF4_HUMAN	K	593;594;594;450;423;441;441;374	ENSP00000264111:E593K;ENSP00000380271:E594K;ENSP00000387104:E594K;ENSP00000380276:E450K;ENSP00000440135:E423K;ENSP00000440250:E441K;ENSP00000437384:E441K;ENSP00000438011:E374K	ENSP00000264111:E593K	E	+	1	0	RAPGEF4	173587559	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	7.330000	0.79181	2.941000	0.99782	0.655000	0.94253	GAG		0.502	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2		NM_007023		4	30	0	0	0	0.014758	0	4	30		
ZAK	51776	broad.mit.edu	37	2	174047626	174047626	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:174047626A>G	ENST00000375213.3	+	4	370	c.292A>G	c.(292-294)Aga>Gga	p.R98G	MLK7-AS1_ENST00000419609.1_RNA|MLTK_ENST00000338983.3_Missense_Mutation_p.R98G|MLTK_ENST00000480606.1_3'UTR|MLTK_ENST00000431503.2_5'UTR|MLTK_ENST00000539448.1_Missense_Mutation_p.R98G|MLTK_ENST00000409176.2_Missense_Mutation_p.R98G|MLK7-AS1_ENST00000422703.1_RNA	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		98	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										TAACAGTAACAGAAGTGAGGA	0.323																																						uc002uhz.2		NaN																	0				lung(3)|stomach(1)|ovary(1)|skin(1)	6						c.(292-294)AGA>GGA		MLK-related kinase isoform 1							74.0	76.0	76.0					2																	174047626		2203	4300	6503	SO:0001583	missense	51776				activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation	cytoplasm|nucleus	ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr2:174047626A>G																												ENST00000375213.3:c.292A>G	2.37:g.174047626A>G	ENSP00000364361:p.Arg98Gly					ZAK_uc002uhx.2_Missense_Mutation_p.R98G|ZAK_uc002uhy.2_Missense_Mutation_p.R98G|ZAK_uc010zei.1_5'UTR|ZAK_uc002uia.1_Missense_Mutation_p.R98G	p.R98G	NM_016653	NP_057737	Q9NYL2	MLTK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.176)		4	492	+			98			Protein kinase.		B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	ENST00000375213.3	37	c.292A>G	CCDS42777.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.325012	0.41197	.	.	ENSG00000091436	ENST00000539448;ENST00000409176;ENST00000338983;ENST00000375213;ENST00000422149	D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63	5.74	4.57	0.56435	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.222445	0.56097	D	0.000036	T	0.77711	0.4171	L	0.37507	1.11	0.80722	D	1	B;B;B;B	0.26147	0.118;0.101;0.143;0.095	B;B;B;B	0.30401	0.07;0.056;0.115;0.051	T	0.74441	-0.3664	10	0.62326	D	0.03	.	13.0281	0.58827	0.8653:0.1347:0.0:0.0	.	98;98;98;98	Q9NYL2-2;Q9NYL2;D4Q8H0;Q9NYL2-3	.;MLTK_HUMAN;.;.	G	98	ENSP00000439414:R98G;ENSP00000387259:R98G;ENSP00000340257:R98G;ENSP00000364361:R98G;ENSP00000411923:R98G	ENSP00000340257:R98G	R	+	1	2	AC013461.1	173755872	1.000000	0.71417	0.997000	0.53966	0.949000	0.60115	4.880000	0.63107	0.989000	0.38761	-0.316000	0.08728	AGA		0.323	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1				6	33	0	0	0	0.001984	0	6	33		
TTN	7273	broad.mit.edu	37	2	179440352	179440352	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:179440352A>C	ENST00000591111.1	-	276	65808	c.65584T>G	c.(65584-65586)Tgt>Ggt	p.C21862G	TTN_ENST00000460472.2_Missense_Mutation_p.C14438G|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.C14630G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.C14563G|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.C23503G|TTN_ENST00000342992.6_Missense_Mutation_p.C20935G|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21862	Fibronectin type-III 58. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAATATTCACACCCTTCAGAC	0.438																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(62803-62805)TGT>GGT		titin isoform N2-A							127.0	123.0	124.0					2																	179440352		1936	4134	6070	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179440352A>C	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.65584T>G	2.37:g.179440352A>C	ENSP00000465570:p.Cys21862Gly					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.C14630G|TTN_uc010zfi.1_Missense_Mutation_p.C14563G|TTN_uc010zfj.1_Missense_Mutation_p.C14438G	p.C20935G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	63027	-			21862					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.62803T>G		.	.	.	.	.	.	.	.	.	.	A	3.317	-0.139461	0.06669	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.69	1.86	0.25419	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.37237	0.0996	N	0.20445	0.575	0.40603	D	0.981605	B;B;B;B	0.24043	0.096;0.096;0.096;0.059	B;B;B;B	0.32289	0.143;0.143;0.143;0.143	T	0.18618	-1.0331	9	0.87932	D	0	.	6.958	0.24582	0.7045:0.0:0.064:0.2315	.	14438;14563;14630;21862	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	20935;14438;14630;14563;14436	ENSP00000343764:C20935G;ENSP00000434586:C14438G;ENSP00000340554:C14630G;ENSP00000352154:C14563G	ENSP00000340554:C14630G	C	-	1	0	TTN	179148598	0.994000	0.37717	0.078000	0.20375	0.512000	0.34134	3.303000	0.51858	0.072000	0.16694	-0.336000	0.08194	TGT		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		10	83	0	0	0	0.017118	0	10	83		
COL5A2	1290	broad.mit.edu	37	2	189931119	189931119	+	Silent	SNP	T	T	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:189931119T>C	ENST00000374866.3	-	23	1834	c.1560A>G	c.(1558-1560)gaA>gaG	p.E520E		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	520					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AATTTACCCTTTCTCCCACTG	0.453																																						uc002uqk.2		NaN																	0				ovary(2)	2						c.(1558-1560)GAA>GAG		alpha 2 type V collagen preproprotein							162.0	174.0	170.0					2																	189931119		2203	4300	6503	SO:0001819	synonymous_variant	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189931119T>C	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1560A>G	2.37:g.189931119T>C						COL5A2_uc010frx.2_Silent_p.E96E	p.E520E	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		23	1835	-			520					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Silent	SNP	ENST00000374866.3	37	c.1560A>G	CCDS33350.1																																																																																				0.453	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1		NM_000393		11	177	0	0	0	0.010729	0	11	177		
TMEFF2	23671	broad.mit.edu	37	2	192818461	192818461	+	Silent	SNP	A	A	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:192818461A>T	ENST00000272771.5	-	9	2156	c.972T>A	c.(970-972)gcT>gcA	p.A324A	TMEFF2_ENST00000392314.1_Silent_p.A324A|AC098617.1_ENST00000424116.2_RNA|AC098617.1_ENST00000428980.2_RNA	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	324						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TTCCAATCACAGCTGCGATTA	0.433																																					Pancreas(50;1277 1381 28487 47072)	uc002utc.2		NaN																	0				lung(2)|pancreas(1)|breast(1)|skin(1)	5						c.(970-972)GCT>GCA		transmembrane protein with EGF-like and two							131.0	112.0	118.0					2																	192818461		2203	4300	6503	SO:0001819	synonymous_variant	23671					extracellular region|integral to membrane		g.chr2:192818461A>T	AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"""transmembrane protein TENB2"", ""tomoregulin"", ""cancer/testis antigen family 120, member 2"""	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.972T>A	2.37:g.192818461A>T							p.A324A	NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0835)		9	1366	-			324			Helical; (Potential).		Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Silent	SNP	ENST00000272771.5	37	c.972T>A	CCDS2314.1																																																																																				0.433	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2		NM_016192		9	46	0	0	0	0.008291	0	9	46		
FN1	2335	broad.mit.edu	37	2	216259329	216259329	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:216259329C>T	ENST00000359671.1	-	24	3983	c.3718G>A	c.(3718-3720)Ggc>Agc	p.G1240S	FN1_ENST00000336916.4_Missense_Mutation_p.G1240S|FN1_ENST00000323926.6_Missense_Mutation_p.G1240S|FN1_ENST00000346544.3_Missense_Mutation_p.G1240S|FN1_ENST00000357009.2_Missense_Mutation_p.G1240S|FN1_ENST00000421182.1_Missense_Mutation_p.G1240S|FN1_ENST00000345488.5_Missense_Mutation_p.G1240S|FN1_ENST00000357867.4_Missense_Mutation_p.G1240S|FN1_ENST00000446046.1_Missense_Mutation_p.G1240S|FN1_ENST00000443816.1_Missense_Mutation_p.G1240S|FN1_ENST00000432072.2_Missense_Mutation_p.G1240S|FN1_ENST00000356005.4_Missense_Mutation_p.G1240S|FN1_ENST00000354785.4_Missense_Mutation_p.G1240S			P02751	FINC_HUMAN	fibronectin 1	1240	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TACTCCAGGCCGGGACTCAGG	0.453																																						uc002vfa.2		NaN																	0				central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(3718-3720)GGC>AGC		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						159.0	160.0	160.0					2																	216259329		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216259329C>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.3718G>A	2.37:g.216259329C>T	ENSP00000352696:p.Gly1240Ser					FN1_uc002vfb.2_Missense_Mutation_p.G1240S|FN1_uc002vfc.2_Missense_Mutation_p.G1240S|FN1_uc002vfd.2_Missense_Mutation_p.G1240S|FN1_uc002vfe.2_Missense_Mutation_p.G1240S|FN1_uc002vff.2_Missense_Mutation_p.G1240S|FN1_uc002vfg.2_Missense_Mutation_p.G1240S|FN1_uc002vfh.2_Missense_Mutation_p.G1240S|FN1_uc002vfi.2_Missense_Mutation_p.G1240S|FN1_uc002vfj.2_Missense_Mutation_p.G1240S|FN1_uc002vez.2_5'Flank|FN1_uc010zjp.1_5'Flank	p.G1240S	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	24	3984	-		Renal(323;0.127)	1240			Fibronectin type-III 7.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.3718G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.286830	0.95517	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08;0.08;0.08;0.08;0.08;0.08;0.08;0.08	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000002	T	0.76335	0.3973	M	0.66939	2.045	0.80722	D	1	D;D;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;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0;1.0;1.0;0.999;0.999;1.0	T	0.77720	-0.2482	10	0.87932	D	0	.	19.7145	0.96110	0.0:1.0:0.0:0.0	.	1240;1240;1240;1240;1240;1240;1240;1240;1240;1240	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	S	1240	ENSP00000394423:G1240S;ENSP00000323534:G1240S;ENSP00000338200:G1240S;ENSP00000350534:G1240S;ENSP00000346839:G1240S;ENSP00000352696:G1240S;ENSP00000265312:G1240S;ENSP00000273049:G1240S;ENSP00000349509:G1240S;ENSP00000410422:G1240S;ENSP00000415018:G1240S;ENSP00000399538:G1240S;ENSP00000348285:G1240S	ENSP00000265313:G1240S	G	-	1	0	FN1	215967574	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.339000	0.79282	2.654000	0.90174	0.655000	0.94253	GGC		0.453	FN1-204	KNOWN	basic	protein_coding	protein_coding			NM_212476		7	145	0	0	0	0.004482	0	7	145		
B3GNT7	93010	broad.mit.edu	37	2	232263313	232263313	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:232263313C>T	ENST00000287590.5	+	2	1144	c.883C>T	c.(883-885)Ccg>Tcg	p.P295S		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	295					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GGCCAGCTATCCGCCGTATGC	0.647																																						uc002vrs.2		NaN																	0					0						c.(883-885)CCG>TCG		UDP-GlcNAc:betaGal							24.0	30.0	28.0					2																	232263313		1965	4130	6095	SO:0001583	missense	93010				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr2:232263313C>T	AK000770	CCDS46540.1	2q36.1	2013-02-21			ENSG00000156966	ENSG00000156966		"""Beta 3-glycosyltransferases"""	18811	protein-coding gene	gene with protein product		615313				12061784	Standard	NM_145236		Approved	beta3GnT7	uc002vrs.3	Q8NFL0	OTTHUMG00000153880	ENST00000287590.5:c.883C>T	2.37:g.232263313C>T	ENSP00000287590:p.Pro295Ser						p.P295S	NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)	2	1063	+		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	295			Lumenal (Potential).		B3KWY4|B7WNP0	Missense_Mutation	SNP	ENST00000287590.5	37	c.883C>T	CCDS46540.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200835	0.58234	.	.	ENSG00000156966	ENST00000287590	T	0.48836	0.8	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.76543	0.4002	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83351	-0.0003	10	0.87932	D	0	.	17.4035	0.87467	0.0:1.0:0.0:0.0	.	295	Q8NFL0	B3GN7_HUMAN	S	295	ENSP00000287590:P295S	ENSP00000287590:P295S	P	+	1	0	B3GNT7	231971557	1.000000	0.71417	0.996000	0.52242	0.057000	0.15508	7.783000	0.85696	2.355000	0.79922	0.561000	0.74099	CCG		0.647	B3GNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332827.1		NM_145236		4	25	0	0	0	0.009096	0	4	25		
INPP5D	3635	broad.mit.edu	37	2	234098579	234098579	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:234098579C>T	ENST00000359570.5	+	24	2406	c.2406C>T	c.(2404-2406)tcC>tcT	p.S802S	INPP5D_ENST00000455936.2_Silent_p.S566S|INPP5D_ENST00000450745.1_Silent_p.S566S			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	814					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GCGACGAATCCTATGGTAAGG	0.567																																					NSCLC(82;1215 1426 16163 20348 41018)	uc010zmo.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2440-2442)TCC>TCT		SH2 containing inositol phosphatase isoform a							109.0	112.0	111.0					2																	234098579		2160	4259	6419	SO:0001819	synonymous_variant	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234098579C>T	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2406C>T	2.37:g.234098579C>T						INPP5D_uc010zmp.1_Silent_p.S813S	p.S814S	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	21	2595	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	814					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Silent	SNP	ENST00000359570.5	37	c.2442C>T																																																																																					0.567	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001017915		5	45	0	0	0	0.014758	0	5	45		
MTERF4	130916	broad.mit.edu	37	2	242035456	242035456	+	Missense_Mutation	SNP	G	G	A	rs527256124		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:242035456G>A	ENST00000391980.2	-	4	1161	c.1103C>T	c.(1102-1104)gCg>gTg	p.A368V	MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000406593.1_Missense_Mutation_p.A180V	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		368					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)			endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		attgtcctccgcctcgtcgtc	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		21955	0.0		0.0	False		,,,				2504	0.001					uc002wan.1		NaN																	0				ovary(1)	1						c.(1189-1191)GCG>GTG		MTERF domain containing 2							336.0	236.0	270.0					2																	242035456		2203	4300	6503	SO:0001583	missense	130916							g.chr2:242035456G>A																												ENST00000391980.2:c.1103C>T	2.37:g.242035456G>A	ENSP00000375840:p.Ala368Val					MTERFD2_uc010zoj.1_Missense_Mutation_p.A180V	p.A397V	NM_182501	NP_872307	Q7Z6M4	MTER2_HUMAN		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)	3	1683	-		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	368					A8K6K0|Q9P0E0	Missense_Mutation	SNP	ENST00000391980.2	37	c.1190C>T	CCDS2544.1	.	.	.	.	.	.	.	.	.	.	G	0.771	-0.765663	0.02996	.	.	ENSG00000122085	ENST00000391980;ENST00000406593	T;T	0.07800	3.16;3.16	0.458	-0.916	0.10489	.	.	.	.	.	T	0.02494	0.0076	N	0.08118	0	0.09310	N	0.999999	P	0.37612	0.602	B	0.12156	0.007	T	0.37174	-0.9717	8	0.87932	D	0	.	.	.	.	.	368	Q7Z6M4	MTER2_HUMAN	V	368;180	ENSP00000375840:A368V;ENSP00000384998:A180V	ENSP00000241527:A368V	A	-	2	0	MTERFD2	241684129	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-2.807000	0.00757	-1.403000	0.02053	-1.398000	0.01145	GCG		0.498	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4				5	64	0	0	0	0.014758	0	5	64		
CFAP61	26074	broad.mit.edu	37	20	20144789	20144789	+	Silent	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr20:20144789C>A	ENST00000245957.5	+	11	1198	c.1122C>A	c.(1120-1122)ccC>ccA	p.P374P	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Silent_p.P374P|C20orf26_ENST00000377306.1_Silent_p.P374P|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		374										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CTGAAGAGCCCGTCCACTTCC	0.478																																						uc002wru.2		NaN																	0				ovary(3)|pancreas(1)	4						c.(1120-1122)CCC>CCA		hypothetical protein LOC26074							125.0	119.0	121.0					20																	20144789		2203	4300	6503	SO:0001819	synonymous_variant	26074							g.chr20:20144789C>A																												ENST00000245957.5:c.1122C>A	20.37:g.20144789C>A						C20orf26_uc010gcw.1_Silent_p.P328P|C20orf26_uc010zse.1_Silent_p.P374P|C20orf26_uc010zsf.1_Silent_p.P374P	p.P374P	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	11	1198	+			374					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	ENST00000245957.5	37	c.1122C>A	CCDS33447.1																																																																																				0.478	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3				9	88	1	0	7.48243e-07	0.006214	8.24594e-07	9	88		
XRN2	22803	broad.mit.edu	37	20	21312985	21312985	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr20:21312985C>G	ENST00000377191.3	+	9	860	c.765C>G	c.(763-765)ttC>ttG	p.F255L	XRN2_ENST00000430571.2_Missense_Mutation_p.F179L|XRN2_ENST00000539513.1_Missense_Mutation_p.F201L	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	255					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						GAGAAGAATTCAAACCAAACA	0.388																																						uc002wsf.1		NaN																	0				skin(1)	1						c.(763-765)TTC>TTG		5'-3' exoribonuclease 2							110.0	101.0	104.0					20																	21312985		2203	4299	6502	SO:0001583	missense	22803				cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21312985C>G	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.765C>G	20.37:g.21312985C>G	ENSP00000366396:p.Phe255Leu					XRN2_uc002wsg.1_Missense_Mutation_p.F179L|XRN2_uc010zsk.1_Missense_Mutation_p.F201L	p.F255L	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN			9	860	+			255					Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	c.765C>G	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930605	0.73327	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.76186	-1.0;-1.0;-1.0	5.51	4.57	0.56435	Putative 5-3 exonuclease (1);	0.101773	0.64402	D	0.000001	D	0.86264	0.5891	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86739	0.1953	10	0.49607	T	0.09	-11.3094	10.758	0.46247	0.0:0.8:0.0:0.2	.	255	Q9H0D6	XRN2_HUMAN	L	255;179;201	ENSP00000366396:F255L;ENSP00000413548:F179L;ENSP00000441113:F201L	ENSP00000366396:F255L	F	+	3	2	XRN2	21260985	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.148000	0.31614	1.322000	0.45245	0.655000	0.94253	TTC		0.388	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2		NM_012255		6	48	0	0	0	0.001168	0	6	48		
RUNX1	861	broad.mit.edu	37	21	36421143	36421143	+	Missense_Mutation	SNP	C	C	G	rs371736038		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr21:36421143C>G	ENST00000300305.3	-	1	498	c.54G>C	c.(52-54)atG>atC	p.M18I	RUNX1_ENST00000486278.2_5'UTR|RUNX1_ENST00000437180.1_Missense_Mutation_p.M18I			Q01196	RUNX1_HUMAN	runt-related transcription factor 1	0					behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						ACTCACCTCTCATGAAGCACT	0.483			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	uc010gmu.2		NaN		Dom	yes		21	21q22.3	861	T	runt-related transcription factor 1  (AML1)			L	RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4		AML|preB- ALL|T-ALL		0				haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1)	387						c.(52-54)ATG>ATC		runt-related transcription factor 1 isoform							217.0	179.0	192.0					21																	36421143		2203	4300	6503	SO:0001583	missense	861	Platelet_disorder_associated_with_Myeloid_Malignancies			myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus|nucleus	ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr21:36421143C>G	X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000300305.3:c.54G>C	21.37:g.36421143C>G	ENSP00000300305:p.Met18Ile					RUNX1_uc002yut.1_RNA|RUNX1_uc010gmv.2_Missense_Mutation_p.M18I|RUNX1_uc002yuj.3_5'UTR|RUNX1_uc002yuk.3_Missense_Mutation_p.M18I|RUNX1_uc002yum.1_5'UTR|RUNX1_uc010gmw.1_Missense_Mutation_p.M18I	p.M18I	NM_001754	NP_001745	Q01196	RUNX1_HUMAN			2	198	-			Error:Variant_position_missing_in_Q01196_after_alignment					A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Missense_Mutation	SNP	ENST00000300305.3	37	c.54G>C	CCDS13639.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.257378	0.22965	.	.	ENSG00000159216	ENST00000300305;ENST00000437180;ENST00000455571;ENST00000416754	D;D;D	0.97209	-3.96;-3.96;-4.29	5.19	5.19	0.71726	.	.	.	.	.	D	0.91314	0.7261	N	0.08118	0	0.80722	D	1	B;B	0.22909	0.077;0.007	B;B	0.17098	0.017;0.003	D	0.88363	0.2989	9	0.22109	T	0.4	-4.1588	14.3252	0.66515	0.0:0.8515:0.1484:0.0	.	18;18	Q2TAM6;Q01196-8	.;.	I	18	ENSP00000300305:M18I;ENSP00000409227:M18I;ENSP00000388189:M18I	ENSP00000300305:M18I	M	-	3	0	RUNX1	35343013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.035000	0.49759	2.377000	0.81083	0.655000	0.94253	ATG		0.483	RUNX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194231.1				6	172	0	0	0	0.001984	0	6	172		
WDR4	10785	broad.mit.edu	37	21	44272389	44272389	+	Missense_Mutation	SNP	G	G	A	rs147294240		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr21:44272389G>A	ENST00000398208.2	-	10	1080	c.1021C>T	c.(1021-1023)Cgt>Tgt	p.R341C	WDR4_ENST00000330317.2_Missense_Mutation_p.R341C|WDR4_ENST00000492742.1_5'UTR	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2			WD repeat domain 4											haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		CAGTTCCCACGAAGAACACCA	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18909	0.0		0.0	False		,,,				2504	0.0					uc002zci.2		NaN																	0				ovary(1)	1						c.(1021-1023)CGT>TGT		WD repeat domain 4 protein		G	CYS/ARG,CYS/ARG	4,4402	8.1+/-20.4	0,4,2199	94.0	72.0	79.0		1021,1021	3.2	0.0	21	dbSNP_134	79	0,8600		0,0,4300	yes	missense,missense	WDR4	NM_018669.4,NM_033661.3	180,180	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign,benign	341/413,341/413	44272389	4,13002	2203	4300	6503	SO:0001583	missense	10785				tRNA modification	cytoplasm|nucleoplasm	protein binding	g.chr21:44272389G>A	AJ243912	CCDS13691.1	21q22.3	2013-01-09			ENSG00000160193	ENSG00000160193		"""WD repeat domain containing"""	12756	protein-coding gene	gene with protein product	"""TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)"""	605924				12403464	Standard	NM_018669		Approved	TRM82, TRMT82	uc002zci.4	P57081	OTTHUMG00000086826	ENST00000398208.2:c.1021C>T	21.37:g.44272389G>A	ENSP00000381266:p.Arg341Cys					WDR4_uc002zck.1_Missense_Mutation_p.R341C|WDR4_uc002zcl.1_Missense_Mutation_p.R195C|WDR4_uc010gpg.1_Missense_Mutation_p.R340C|WDR4_uc011aew.1_Missense_Mutation_p.R195C|WDR4_uc010gph.1_Missense_Mutation_p.R195C	p.R341C	NM_033661	NP_387510	P57081	WDR4_HUMAN		Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)	10	1094	-			341						Missense_Mutation	SNP	ENST00000398208.2	37	c.1021C>T	CCDS13691.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.520502	0.27211	9.08E-4	0.0	ENSG00000160193	ENST00000330317;ENST00000398208	T;T	0.61859	0.07;0.07	4.12	3.24	0.37175	.	0.619767	0.15978	N	0.235426	T	0.41627	0.1167	L	0.27053	0.805	0.09310	N	1	B;B	0.22276	0.067;0.04	B;B	0.17433	0.018;0.005	T	0.33854	-0.9852	10	0.54805	T	0.06	-7.3963	7.9382	0.29941	0.1136:0.0:0.8864:0.0	.	340;341	P57081-2;P57081	.;WDR4_HUMAN	C	341	ENSP00000328671:R341C;ENSP00000381266:R341C	ENSP00000328671:R341C	R	-	1	0	WDR4	43145458	0.058000	0.20735	0.002000	0.10522	0.018000	0.09664	2.762000	0.47597	1.098000	0.41479	0.655000	0.94253	CGT		0.567	WDR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195479.1				4	24	0	0	0	0.014758	0	4	24		
WDR4	10785	broad.mit.edu	37	21	44274683	44274683	+	Silent	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr21:44274683G>C	ENST00000398208.2	-	8	839	c.780C>G	c.(778-780)ctC>ctG	p.L260L	WDR4_ENST00000330317.2_Silent_p.L260L|WDR4_ENST00000492742.1_5'UTR	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2			WD repeat domain 4											haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		CGTCGCACAGGAGCGCCACGC	0.612																																						uc002zci.2		NaN																	0				ovary(1)	1						c.(778-780)CTC>CTG		WD repeat domain 4 protein							36.0	35.0	35.0					21																	44274683		2203	4300	6503	SO:0001819	synonymous_variant	10785				tRNA modification	cytoplasm|nucleoplasm	protein binding	g.chr21:44274683G>C	AJ243912	CCDS13691.1	21q22.3	2013-01-09			ENSG00000160193	ENSG00000160193		"""WD repeat domain containing"""	12756	protein-coding gene	gene with protein product	"""TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)"""	605924				12403464	Standard	NM_018669		Approved	TRM82, TRMT82	uc002zci.4	P57081	OTTHUMG00000086826	ENST00000398208.2:c.780C>G	21.37:g.44274683G>C						WDR4_uc002zck.1_Silent_p.L260L|WDR4_uc002zcl.1_Silent_p.L114L|WDR4_uc010gpg.1_Silent_p.L259L|WDR4_uc011aew.1_Silent_p.L114L|WDR4_uc010gph.1_Silent_p.L114L	p.L260L	NM_033661	NP_387510	P57081	WDR4_HUMAN		Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)	8	853	-			260						Silent	SNP	ENST00000398208.2	37	c.780C>G	CCDS13691.1																																																																																				0.612	WDR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195479.1				3	25	0	0	0	0.009096	0	3	25		
MCM3AP	8888	broad.mit.edu	37	21	47678906	47678906	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr21:47678906C>G	ENST00000397708.1	-	17	3935	c.3681G>C	c.(3679-3681)caG>caC	p.Q1227H	MCM3AP_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Missense_Mutation_p.Q1227H|MCM3AP-AS1_ENST00000590829.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1227	CID.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCTTTGCAGTCTGGAAGATTT	0.537																																						uc002zir.1		NaN																	0				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						c.(3679-3681)CAG>CAC		minichromosome maintenance complex component 3							100.0	95.0	97.0					21																	47678906		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47678906C>G	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.3681G>C	21.37:g.47678906C>G	ENSP00000380820:p.Gln1227His					MCM3AP_uc002zip.1_5'UTR|MCM3AP_uc002ziq.1_Missense_Mutation_p.Q154H	p.Q1227H	NM_003906	NP_003897	O60318	MCM3A_HUMAN			16	3717	-	Breast(49;0.112)		1227					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.3681G>C	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669779	0.67814	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	D;D	0.84660	-1.88;-1.88	5.13	4.24	0.50183	.	0.425448	0.27298	N	0.020001	D	0.86351	0.5912	L	0.29908	0.895	0.43936	D	0.99659	D	0.69078	0.997	D	0.65573	0.936	D	0.87244	0.2268	10	0.62326	D	0.03	-21.1517	13.01	0.58725	0.0:0.9218:0.0:0.0782	.	1227	O60318	MCM3A_HUMAN	H	1227	ENSP00000380820:Q1227H;ENSP00000291688:Q1227H	ENSP00000291688:Q1227H	Q	-	3	2	MCM3AP	46503334	1.000000	0.71417	0.995000	0.50966	0.781000	0.44180	2.386000	0.44380	2.392000	0.81423	0.591000	0.81541	CAG		0.537	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1		NM_003906		5	81	0	0	0	0.001168	0	5	81		
RIMBP3	85376	broad.mit.edu	37	22	20458068	20458068	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr22:20458068G>A	ENST00000426804.1	-	1	3718	c.3234C>T	c.(3232-3234)ttC>ttT	p.F1078F	RN7SKP131_ENST00000363006.1_RNA|SCARNA18_ENST00000516215.1_RNA|SCARNA17_ENST00000516762.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1078	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			AGAGTGTGTCGAAGGTGACGG	0.662																																						uc002zsd.3		NaN																	0					0						c.(3232-3234)TTC>TTT		RIMS binding protein 3							25.0	43.0	37.0					22																	20458068		1959	4039	5998	SO:0001819	synonymous_variant	85376							g.chr22:20458068G>A	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.3234C>T	22.37:g.20458068G>A							p.F1078F	NM_015672	NP_056487			LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)		1	3719	-	Colorectal(54;0.0993)|Melanoma(16;0.165)							Q8IYP7|Q9BY94|Q9UFQ5	Silent	SNP	ENST00000426804.1	37	c.3234C>T	CCDS46665.1																																																																																				0.662	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2		NM_015672		4	35	0	0	0	0.009096	0	4	35		
THAP7	80764	broad.mit.edu	37	22	21354354	21354354	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr22:21354354C>G	ENST00000215742.4	-	4	919	c.745G>C	c.(745-747)Gat>Cat	p.D249H	THAP7_ENST00000399133.2_Missense_Mutation_p.D249H|THAP7-AS1_ENST00000452284.1_RNA|THAP7-AS1_ENST00000429962.1_RNA|THAP7-AS1_ENST00000436079.1_RNA	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	249					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nuclear speck (GO:0016607)	C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TCAAGGGCATCAAGGGCTGCC	0.682																																						uc002ztr.1		NaN																	0					0						c.(745-747)GAT>CAT		THAP domain containing 7 isoform 2							21.0	22.0	21.0					22																	21354354		2202	4294	6496	SO:0001583	missense	80764				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding	g.chr22:21354354C>G	BC004346	CCDS13787.1	22q11.2	2013-01-25			ENSG00000184436	ENSG00000184436		"""THAP (C2CH-type zinc finger) domain containing"""	23190	protein-coding gene	gene with protein product		609518				12575992	Standard	NM_030573		Approved	MGC10963	uc002ztr.1	Q9BT49	OTTHUMG00000150879	ENST00000215742.4:c.745G>C	22.37:g.21354354C>G	ENSP00000215742:p.Asp249His					THAP7_uc002zts.1_Missense_Mutation_p.D249H|FLJ39582_uc002ztt.1_5'Flank|FLJ39582_uc002ztu.1_5'Flank|FLJ39582_uc002ztv.2_5'Flank	p.D249H	NM_001008695	NP_001008695	Q9BT49	THAP7_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		5	775	-	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	249					B2RD97|D3DX40	Missense_Mutation	SNP	ENST00000215742.4	37	c.745G>C	CCDS13787.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160166	0.78226	.	.	ENSG00000184436	ENST00000215742;ENST00000399133	D;D	0.96745	-4.11;-4.11	4.55	4.55	0.56014	.	0.364863	0.24638	N	0.036831	D	0.94437	0.8210	N	0.19112	0.55	0.47862	D	0.999538	D	0.54964	0.969	P	0.52627	0.704	D	0.95229	0.8341	10	0.72032	D	0.01	-28.6523	14.835	0.70175	0.0:1.0:0.0:0.0	.	249	Q9BT49	THAP7_HUMAN	H	249	ENSP00000215742:D249H;ENSP00000382084:D249H	ENSP00000215742:D249H	D	-	1	0	THAP7	19684354	0.038000	0.19896	0.691000	0.30163	0.990000	0.78478	1.281000	0.33214	2.321000	0.78463	0.655000	0.94253	GAT		0.682	THAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320405.1		NM_030573		10	33	0	0	0	0.006214	0	10	33		
LARGE	9215	broad.mit.edu	37	22	34046621	34046621	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr22:34046621G>A	ENST00000354992.2	-	4	711	c.140C>T	c.(139-141)tCc>tTc	p.S47F	LARGE_ENST00000437602.2_Missense_Mutation_p.S47F|LARGE_ENST00000337431.2_Missense_Mutation_p.S47F|LARGE_ENST00000402320.1_Missense_Mutation_p.S47F|LARGE_ENST00000397394.2_Missense_Mutation_p.S47F	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	47					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)	p.S47F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GTGTGCCTGGGACTCCAGCGG	0.647																																					Colon(70;397 1175 4573 19089 45288)	uc003and.3		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(139-141)TCC>TTC		like-glycosyltransferase							29.0	29.0	29.0					22																	34046621		2198	4291	6489	SO:0001583	missense	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:34046621G>A	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.140C>T	22.37:g.34046621G>A	ENSP00000347088:p.Ser47Phe					LARGE_uc003ane.3_Missense_Mutation_p.S47F|LARGE_uc010gwp.2_Missense_Mutation_p.S47F|LARGE_uc011ame.1_5'UTR|LARGE_uc011amf.1_Missense_Mutation_p.S47F	p.S47F	NM_004737	NP_004728	O95461	LARGE_HUMAN			4	719	-		Lung NSC(1;0.219)	47			Lumenal (Potential).		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	c.140C>T	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544580	0.65198	.	.	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000437602;ENST00000430220;ENST00000413114;ENST00000434071;ENST00000432776;ENST00000423375	T;T;T;T;T;T;T;T	0.55234	1.02;1.02;1.02;1.02;0.53;1.4;1.4;1.38	5.84	5.84	0.93424	.	0.314687	0.35040	N	0.003493	T	0.40297	0.1111	N	0.14661	0.345	0.80722	D	1	B;B;B	0.33919	0.068;0.432;0.306	B;B;B	0.30646	0.025;0.118;0.034	T	0.38628	-0.9652	10	0.59425	D	0.04	4.7428	20.1533	0.98095	0.0:0.0:1.0:0.0	.	47;47;47	B7Z2I9;O95461-2;O95461	.;.;LARGE_HUMAN	F	47	ENSP00000347088:S47F;ENSP00000336636:S47F;ENSP00000380549:S47F;ENSP00000385223:S47F;ENSP00000388544:S47F;ENSP00000396277:S47F;ENSP00000415546:S47F;ENSP00000389605:S47F	ENSP00000336636:S47F	S	-	2	0	LARGE	32376621	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.670000	0.74467	2.758000	0.94735	0.655000	0.94253	TCC		0.647	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2		NM_133642		3	34	0	0	0	0.004672	0	3	34		
EFCAB6	64800	broad.mit.edu	37	22	44068181	44068181	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr22:44068181C>G	ENST00000262726.7	-	14	1677	c.1424G>C	c.(1423-1425)aGa>aCa	p.R475T	EFCAB6_ENST00000396231.2_Missense_Mutation_p.R323T	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	475					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AGATGTCTTTCTCATCTAATT	0.438																																						uc003bdy.1		NaN																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7						c.(1423-1425)AGA>ACA		CAP-binding protein complex interacting protein							96.0	87.0	90.0					22																	44068181		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44068181C>G	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1424G>C	22.37:g.44068181C>G	ENSP00000262726:p.Arg475Thr					EFCAB6_uc003bdz.1_Missense_Mutation_p.R323T|EFCAB6_uc010gzi.1_Missense_Mutation_p.R323T|EFCAB6_uc010gzk.1_RNA	p.R475T	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN			14	1639	-		Ovarian(80;0.0247)|all_neural(38;0.025)	475					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.1424G>C	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	8.537	0.872464	0.17322	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.06933	3.24;3.24	5.26	0.687	0.18020	.	0.935728	0.09104	N	0.848066	T	0.07683	0.0193	L	0.50333	1.59	0.09310	N	1	B	0.25850	0.136	B	0.24006	0.05	T	0.44997	-0.9291	10	0.12766	T	0.61	-2.4908	7.1598	0.25657	0.0:0.6039:0.0:0.3961	.	475	Q5THR3	EFCB6_HUMAN	T	323;475	ENSP00000379533:R323T;ENSP00000262726:R475T	ENSP00000262726:R475T	R	-	2	0	EFCAB6	42399514	0.000000	0.05858	0.000000	0.03702	0.316000	0.28119	0.020000	0.13466	0.325000	0.23359	0.650000	0.86243	AGA		0.438	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1		NM_022785		4	34	0	0	0	0.009096	0	4	34		
CADPS	8618	broad.mit.edu	37	3	62484936	62484936	+	Silent	SNP	T	T	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr3:62484936T>C	ENST00000383710.4	-	18	2956	c.2607A>G	c.(2605-2607)gtA>gtG	p.V869V	CADPS_ENST00000357948.3_Silent_p.V846V|CADPS_ENST00000283269.9_Silent_p.V886V	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	869	Interaction with DRD2.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TTAACCGGCCTACATTTTCTG	0.398																																						uc003dll.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(2605-2607)GTA>GTG		Ca2+-dependent secretion activator isoform 1							116.0	105.0	109.0					3																	62484936		2203	4300	6503	SO:0001819	synonymous_variant	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62484936T>C	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.2607A>G	3.37:g.62484936T>C						CADPS_uc003dlk.1_Silent_p.V373V|CADPS_uc003dlm.2_Silent_p.V886V|CADPS_uc003dln.2_Silent_p.V846V	p.V869V	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	18	2967	-		Lung SC(41;0.0452)	869			Interaction with DRD2.		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP	ENST00000383710.4	37	c.2607A>G	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	T	6.855	0.527076	0.13066	.	.	ENSG00000163618	ENST00000491424	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	T	0.73305	0.3570	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72340	-0.4323	4	.	.	.	.	16.3109	0.82869	0.0:0.0:0.0:1.0	.	.	.	.	G	176	.	.	R	-	1	2	CADPS	62459976	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.961000	0.70356	2.257000	0.74773	0.460000	0.39030	AGG		0.398	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5		NM_003716, NM_183393, NM_183394		4	28	0	0	0	0.014758	0	4	28		
ROBO2	6092	broad.mit.edu	37	3	77645844	77645844	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr3:77645844T>A	ENST00000461745.1	+	19	3697	c.2797T>A	c.(2797-2799)Ttg>Atg	p.L933M	ROBO2_ENST00000487694.3_Missense_Mutation_p.L949M|ROBO2_ENST00000332191.8_Missense_Mutation_p.L933M	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	933					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.L949L(1)|p.L933L(1)		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)		AGCCACGAGCTTGCCAGTAAA	0.428																																						uc003dpy.3		NaN																	2	Substitution - coding silent(2)		large_intestine(2)	lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11						c.(2797-2799)TTG>ATG		roundabout, axon guidance receptor, homolog 2							121.0	121.0	121.0					3																	77645844		1840	4099	5939	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.chr3:77645844T>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2797T>A	3.37:g.77645844T>A	ENSP00000417164:p.Leu933Met					ROBO2_uc003dpz.2_Missense_Mutation_p.L937M|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.L937M|ROBO2_uc003dqa.2_Missense_Mutation_p.L60M	p.L933M	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)	19	3440	+			933			Cytoplasmic (Potential).		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.2797T>A	CCDS43109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.24|11.24	1.581393|1.581393	0.28180|0.28180	.|.	.|.	ENSG00000185008|ENSG00000185008	ENST00000471893|ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	.|T;T;T	.|0.64438	.|-0.1;-0.07;-0.05	6.05|6.05	6.05|6.05	0.98169|0.98169	.|.	0.000000|0.000000	0.36854|0.36854	N|N	0.002377|0.002377	T|T	0.57446|0.57446	0.2054|0.2054	L|L	0.55481|0.55481	1.735|1.735	.|.	.|.	.|.	.|P;P;P	.|0.45283	.|0.696;0.855;0.552	.|B;P;B	.|0.46237	.|0.17;0.508;0.17	T|T	0.68667|0.68667	-0.5348|-0.5348	5|9	.|0.33141	.|T	.|0.24	.|.	4.439|4.439	0.11564|0.11564	0.1693:0.1062:0.0:0.7246|0.1693:0.1062:0.0:0.7246	.|.	.|949;933;933	.|Q19AB5;F8W703;Q9HCK4	.|.;.;ROBO2_HUMAN	H|M	7|949;949;953;933;933	.|ENSP00000417335:L949M;ENSP00000417164:L933M;ENSP00000327536:L933M	.|ENSP00000327536:L933M	L|L	+|+	2|1	0|2	ROBO2|ROBO2	77728534|77728534	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.789000|0.789000	0.44602|0.44602	3.372000|3.372000	0.52387|0.52387	2.311000|2.311000	0.77944|0.77944	0.528000|0.528000	0.53228|0.53228	CTT|TTG		0.428	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2		XM_031246		8	87	0	0	0	0.006214	0	8	87		
MYH15	22989	broad.mit.edu	37	3	108133162	108133162	+	Silent	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr3:108133162G>C	ENST00000273353.3	-	31	4178	c.4122C>G	c.(4120-4122)tcC>tcG	p.S1374S		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1374						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			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						CATTGACTTTGGATAAGGTCC	0.498																																						uc003dxa.1		NaN																	0				ovary(5)|central_nervous_system(2)	7						c.(4120-4122)TCC>TCG		myosin, heavy polypeptide 15							167.0	163.0	164.0					3																	108133162		2045	4190	6235	SO:0001819	synonymous_variant	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108133162G>C	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.4122C>G	3.37:g.108133162G>C							p.S1374S	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			31	4179	-			1374			Potential.			Silent	SNP	ENST00000273353.3	37	c.4122C>G	CCDS43127.1																																																																																				0.498	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1		XM_036988		8	31	0	0	0	0.006214	0	8	31		
TRH	7200	broad.mit.edu	37	3	129695896	129695896	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr3:129695896G>T	ENST00000302649.3	+	3	1093	c.566G>T	c.(565-567)gGc>gTc	p.G189V	TRH_ENST00000507066.1_Missense_Mutation_p.G185V	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	189					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						CAGCATCCGGGCAAGAGGGCC	0.622																																					Esophageal Squamous(60;321 1330 17401 41911)	uc003enc.2		NaN																	0				ovary(1)	1						c.(565-567)GGC>GTC		thyrotropin-releasing hormone							26.0	29.0	28.0					3																	129695896		2202	4299	6501	SO:0001583	missense	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129695896G>T		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"""Endogenous ligands"""	12298	protein-coding gene	gene with protein product	"""prothyroliberin"""	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.566G>T	3.37:g.129695896G>T	ENSP00000303452:p.Gly189Val						p.G189V	NM_007117	NP_009048	P20396	TRH_HUMAN			3	1127	+			189					B2R8R1|Q2TB83	Missense_Mutation	SNP	ENST00000302649.3	37	c.566G>T	CCDS3066.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.603204	0.46423	.	.	ENSG00000170893	ENST00000302649;ENST00000507066	T;T	0.72282	-0.64;-0.64	4.52	4.52	0.55395	.	0.108795	0.64402	D	0.000006	D	0.84593	0.5506	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86984	0.2106	10	0.87932	D	0	-16.7195	13.4611	0.61227	0.0:0.0:1.0:0.0	.	189	P20396	TRH_HUMAN	V	189;185	ENSP00000303452:G189V;ENSP00000426522:G185V	ENSP00000303452:G189V	G	+	2	0	TRH	131178586	1.000000	0.71417	0.995000	0.50966	0.158000	0.22134	4.376000	0.59556	2.449000	0.82847	0.563000	0.77884	GGC		0.622	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1		NM_007117		10	41	1	0	1.58986e-06	0.008291	1.74497e-06	10	41		
C3orf58	205428	broad.mit.edu	37	3	143691456	143691456	+	Silent	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr3:143691456G>C	ENST00000315691.3	+	1	817	c.282G>C	c.(280-282)gcG>gcC	p.A94A	C3orf58_ENST00000441925.2_5'Flank|C3orf58_ENST00000495414.1_5'Flank	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	94					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGTACTTCGCGCAGTACGGCG	0.692																																						uc003evo.2		NaN																	0				ovary(1)	1						c.(280-282)GCG>GCC		hypothetical protein LOC205428 isoform a							24.0	27.0	26.0					3																	143691456		2166	4233	6399	SO:0001819	synonymous_variant	205428					COPI vesicle coat|extracellular region		g.chr3:143691456G>C	AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"""deleted in autism 1"", ""hypoxia and Akt induced stem cell factor"""	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.282G>C	3.37:g.143691456G>C						C3orf58_uc011bnl.1_5'Flank	p.A94A	NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN			1	817	+			94					B2RCF2|B7Z1W3	Silent	SNP	ENST00000315691.3	37	c.282G>C	CCDS3130.1																																																																																				0.692	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1		NM_173552		6	52	0	0	0	0.001168	0	6	52		
PIGG	54872	broad.mit.edu	37	4	524484	524484	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr4:524484G>C	ENST00000453061.2	+	11	2627	c.2521G>C	c.(2521-2523)Gag>Cag	p.E841Q	PIGG_ENST00000504346.1_Missense_Mutation_p.E752Q|PIGG_ENST00000383028.4_Missense_Mutation_p.E708Q|PIGG_ENST00000310340.5_Missense_Mutation_p.E833Q|PIGG_ENST00000296306.7_3'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	841					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 (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CGATGCAGCTGAGATTACTGT	0.378																																						uc003gak.3		NaN																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(2521-2523)GAG>CAG		phosphatidylinositol glycan anchor biosynthesis,							221.0	222.0	222.0					4																	524484		2203	4300	6503	SO:0001583	missense	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:524484G>C		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.2521G>C	4.37:g.524484G>C	ENSP00000415203:p.Glu841Gln					PIGG_uc003gaj.3_Missense_Mutation_p.E833Q|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Missense_Mutation_p.E708Q|PIGG_uc003gal.3_Missense_Mutation_p.E752Q	p.E841Q	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN			11	2657	+			841					B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	c.2521G>C	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	G	8.890	0.953677	0.18431	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028;ENST00000510235	T;T;T;T	0.10573	3.18;3.18;2.86;2.86	5.93	5.07	0.68467	.	0.049742	0.85682	D	0.000000	T	0.04861	0.0131	N	0.04355	-0.22	0.80722	D	1	B;B;B	0.20671	0.047;0.004;0.008	B;B;B	0.15870	0.014;0.003;0.007	T	0.44620	-0.9316	10	0.12430	T	0.62	-29.6387	12.2376	0.54524	0.0:0.2951:0.7049:0.0	.	708;841;833	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	Q	833;841;752;708;15	ENSP00000311750:E833Q;ENSP00000415203:E841Q;ENSP00000424800:E752Q;ENSP00000372494:E708Q	ENSP00000311750:E833Q	E	+	1	0	PIGG	514484	1.000000	0.71417	0.820000	0.32676	0.688000	0.40055	4.850000	0.62889	2.814000	0.96858	0.655000	0.94253	GAG		0.378	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1		NM_017733		7	172	0	0	0	0.001984	0	7	172		
KIAA0232	9778	broad.mit.edu	37	4	6843914	6843914	+	Nonsense_Mutation	SNP	C	C	T	rs553190523		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr4:6843914C>T	ENST00000307659.5	+	4	807	c.352C>T	c.(352-354)Cga>Tga	p.R118*	KIAA0232_ENST00000425103.1_Nonsense_Mutation_p.R118*	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	118							ATP binding (GO:0005524)	p.R118*(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CCAGTGTCTTCGATCTGCTTC	0.348																																						uc003gjr.3		NaN																	1	Substitution - Nonsense(1)		large_intestine(1)	ovary(2)	2						c.(352-354)CGA>TGA		hypothetical protein LOC9778							101.0	107.0	105.0					4																	6843914		1833	4092	5925	SO:0001587	stop_gained	9778						ATP binding	g.chr4:6843914C>T	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.352C>T	4.37:g.6843914C>T	ENSP00000303928:p.Arg118*					KIAA0232_uc003gjq.3_Nonsense_Mutation_p.R118*	p.R118*	NM_014743	NP_055558	Q92628	K0232_HUMAN			4	815	+			118					A7E2D2	Nonsense_Mutation	SNP	ENST00000307659.5	37	c.352C>T	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	C	42	9.516982	0.99193	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.14	5.14	0.70334	.	0.119890	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.8053	18.5814	0.91172	0.0:1.0:0.0:0.0	.	.	.	.	X	118	.	ENSP00000303928:R118X	R	+	1	2	KIAA0232	6894815	1.000000	0.71417	0.979000	0.43373	0.998000	0.95712	7.278000	0.78587	2.360000	0.80028	0.655000	0.94253	CGA		0.348	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2		NM_014743		4	67	0	0	0	0.009096	0	4	67		
CPZ	8532	broad.mit.edu	37	4	8616129	8616129	+	Silent	SNP	C	C	T	rs139712717	byFrequency	TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr4:8616129C>T	ENST00000360986.4	+	9	1581	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	CPZ_ENST00000315782.6_Silent_p.I458I|CPZ_ENST00000382480.2_Silent_p.I332I|CPZ_ENST00000429646.2_Silent_p.I77I	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	469					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCTTTGAGATCACGGTAGAGC	0.582																																						uc003glm.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(1405-1407)ATC>ATT		carboxypeptidase Z isoform 1		C	,,	0,4406		0,0,2203	153.0	133.0	140.0		1407,996,1374	2.2	1.0	4	dbSNP_134	140	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	CPZ	NM_001014447.2,NM_001014448.2,NM_003652.3	,,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,,	469/653,332/516,458/642	8616129	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8616129C>T	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1407C>T	4.37:g.8616129C>T						CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Silent_p.I332I|CPZ_uc003glo.2_Silent_p.I458I|CPZ_uc003glp.2_RNA	p.I469I	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN			9	1533	+			469					O00520|Q96MX2	Silent	SNP	ENST00000360986.4	37	c.1407C>T	CCDS33953.1																																																																																				0.582	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4		NM_003652		5	62	0	0	0	0.014758	0	5	62		
LRRC66	339977	broad.mit.edu	37	4	52861074	52861074	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr4:52861074G>A	ENST00000343457.3	-	4	2120	c.2114C>T	c.(2113-2115)tCt>tTt	p.S705F		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	705						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CCCCTCATCAGAGTCACAGTC	0.527																																						uc003gzi.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2113-2115)TCT>TTT		leucine rich repeat containing 66							93.0	87.0	89.0					4																	52861074		1994	4172	6166	SO:0001583	missense	339977					integral to membrane		g.chr4:52861074G>A	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.2114C>T	4.37:g.52861074G>A	ENSP00000341944:p.Ser705Phe						p.S705F	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			4	2127	-			705						Missense_Mutation	SNP	ENST00000343457.3	37	c.2114C>T	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571684	0.45798	.	.	ENSG00000188993	ENST00000343457	T	0.36340	1.26	4.48	3.63	0.41609	.	0.281183	0.26075	N	0.026486	T	0.47021	0.1423	L	0.36672	1.1	0.09310	N	0.999999	D	0.89917	1.0	D	0.74023	0.982	T	0.29761	-1.0001	10	0.87932	D	0	-6.2113	11.3146	0.49383	0.0:0.0:0.8177:0.1823	.	705	Q68CR7	LRC66_HUMAN	F	705	ENSP00000341944:S705F	ENSP00000341944:S705F	S	-	2	0	LRRC66	52555831	0.994000	0.37717	0.076000	0.20297	0.003000	0.03518	4.583000	0.60964	1.228000	0.43614	-0.169000	0.13324	TCT		0.527	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1		NM_001024611		4	76	0	0	0	0.014758	0	4	76		
FIP1L1	81608	broad.mit.edu	37	4	54280809	54280809	+	Silent	SNP	A	A	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr4:54280809A>C	ENST00000337488.6	+	11	1037	c.843A>C	c.(841-843)acA>acC	p.T281T	FIP1L1_ENST00000306932.6_Intron|FIP1L1_ENST00000507922.1_Silent_p.T266T|FIP1L1_ENST00000507166.1_Silent_p.T281T|FIP1L1_ENST00000358575.5_Silent_p.T266T	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	281	Necessary for stimulating PAPOLA activity.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AGTCTCAGACAAGTACTGCCT	0.403			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	uc003haa.2		NaN		Dom	yes		4	4q12	81608	Mis|O|T	FIP1 like 1 (S. cerevisiae)			L	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		0				soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(841-843)ACA>ACC		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						93.0	91.0	92.0					4																	54280809		2203	4300	6503	SO:0001819	synonymous_variant	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis			cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:54280809A>C	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.843A>C	4.37:g.54280809A>C		TSP Lung(21;0.16)				FIP1L1_uc003gzx.3_Silent_p.T266T|FIP1L1_uc011bzt.1_Intron|FIP1L1_uc003gzy.2_Silent_p.T281T|FIP1L1_uc011bzu.1_Silent_p.T266T|FIP1L1_uc003gzz.2_Intron|FIP1L1_uc003hab.2_Silent_p.T246T|FIP1L1_uc003hac.2_Intron|FIP1L1_uc010ign.2_Intron	p.T281T	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		11	1029	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Silent	SNP	ENST00000337488.6	37	c.843A>C	CCDS3491.1																																																																																				0.403	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1		NM_030917		6	24	0	0	0	0.00308	0	6	24		
KDR	3791	broad.mit.edu	37	4	55948801	55948801	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr4:55948801G>A	ENST00000263923.4	-	28	3959	c.3664C>T	c.(3664-3666)Cag>Tag	p.Q1222*	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1222					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGCAGATACTGACTGCAAAAG	0.373			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.2		NaN		Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		0				lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(3664-3666)CAG>TAG		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						102.0	101.0	101.0					4																	55948801		2203	4300	6503	SO:0001630	splice_region_variant	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55948801G>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3663-1C>T	4.37:g.55948801G>A		TSP Lung(20;0.16)				KDR_uc003hat.1_Nonsense_Mutation_p.Q1222*	p.Q1222*	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		28	3966	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		1222			Cytoplasmic (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Nonsense_Mutation	SNP	ENST00000263923.4	37	c.3664C>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	44	11.249142	0.99537	.	.	ENSG00000128052	ENST00000263923	.	.	.	5.64	5.64	0.86602	.	0.095637	0.46442	D	0.000296	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	17.8642	0.88791	0.0:0.0:1.0:0.0	.	.	.	.	X	1222	.	ENSP00000263923:Q1222X	Q	-	1	0	KDR	55643558	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.853000	0.55941	2.661000	0.90470	0.655000	0.94253	CAG		0.373	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			Nonsense_Mutation	7	54	0	0	0	0.00308	0	7	54		
SLC4A4	8671	broad.mit.edu	37	4	72215710	72215710	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr4:72215710T>G	ENST00000264485.5	+	5	588	c.471T>G	c.(469-471)agT>agG	p.S157R	SLC4A4_ENST00000340595.3_Missense_Mutation_p.S113R|SLC4A4_ENST00000425175.1_Missense_Mutation_p.S157R|SLC4A4_ENST00000351898.6_Missense_Mutation_p.S157R|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Missense_Mutation_p.S113R	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	157					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	CCCTTCATAGTTTATTTGAGC	0.453																																						uc003hfy.2		NaN																	0				ovary(3)|kidney(1)|skin(1)	5						c.(469-471)AGT>AGG		solute carrier family 4, sodium bicarbonate							173.0	160.0	165.0					4																	72215710		2203	4300	6503	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72215710T>G	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.471T>G	4.37:g.72215710T>G	ENSP00000264485:p.Ser157Arg					SLC4A4_uc010iic.2_Missense_Mutation_p.S157R|SLC4A4_uc010iib.2_Missense_Mutation_p.S157R|SLC4A4_uc003hfz.2_Missense_Mutation_p.S157R|SLC4A4_uc003hgc.3_Missense_Mutation_p.S113R|SLC4A4_uc003hga.2_Missense_Mutation_p.S35R|SLC4A4_uc003hgb.3_Missense_Mutation_p.S113R	p.S157R	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		5	588	+			157			Cytoplasmic (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.471T>G	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	T	17.34	3.365260	0.61513	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93	5.77	0.392	0.16288	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.88847	0.6548	H	0.96301	3.8	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;1.0;0.999;1.0;1.0	D	0.89552	0.3800	10	0.87932	D	0	.	12.1071	0.53818	0.0:0.7135:0.0:0.2865	.	157;157;113;113;137;157	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	R	157;157;157;113;113	ENSP00000264485:S157R;ENSP00000393557:S157R;ENSP00000307349:S157R;ENSP00000422400:S113R;ENSP00000344272:S113R	ENSP00000264485:S157R	S	+	3	2	SLC4A4	72434574	0.967000	0.33354	0.984000	0.44739	0.583000	0.36354	0.450000	0.21762	0.030000	0.15379	-0.248000	0.11899	AGT		0.453	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1		NM_003759		6	82	0	0	0	0.001168	0	6	82		
ANXA5	308	broad.mit.edu	37	4	122591161	122591161	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr4:122591161G>C	ENST00000296511.5	-	11	1013	c.728C>G	c.(727-729)tCt>tGt	p.S243C	ANXA5_ENST00000515017.1_Missense_Mutation_p.S143C|ANXA5_ENST00000501272.2_Missense_Mutation_p.S183C	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	243					blood coagulation (GO:0007596)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of coagulation (GO:0050819)|response to organic substance (GO:0010033)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipase inhibitor activity (GO:0004859)|phospholipid binding (GO:0005543)			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						ACTTCGAATAGATTTCACTAA	0.333																																					Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)	uc003idu.3		NaN																	0				ovary(1)	1						c.(727-729)TCT>TGT		annexin 5							73.0	79.0	77.0					4																	122591161		2203	4298	6501	SO:0001583	missense	308				anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity	g.chr4:122591161G>C	U05770	CCDS3720.1	4q27	2008-02-05			ENSG00000164111	ENSG00000164111		"""Annexins"""	543	protein-coding gene	gene with protein product		131230		ENX2, ANX5		2960376	Standard	NM_001154		Approved		uc003idv.4	P08758	OTTHUMG00000133034	ENST00000296511.5:c.728C>G	4.37:g.122591161G>C	ENSP00000296511:p.Ser243Cys					ANXA5_uc003idv.3_Missense_Mutation_p.S243C|ANXA5_uc003idw.3_RNA|ANXA5_uc010inm.2_Missense_Mutation_p.S243C|ANXA5_uc010inn.2_Missense_Mutation_p.S183C|ANXA5_uc010ino.2_Missense_Mutation_p.S143C	p.S243C	NM_001154	NP_001145	P08758	ANXA5_HUMAN			10	798	-			243					D3DNW7|Q6FHB3|Q6FI16|Q8WV69|Q9UDH9	Missense_Mutation	SNP	ENST00000296511.5	37	c.728C>G	CCDS3720.1	.	.	.	.	.	.	.	.	.	.	G	1.647	-0.515053	0.04200	.	.	ENSG00000164111	ENST00000296511;ENST00000512232;ENST00000501272;ENST00000515017	T;T;T	0.09723	2.95;2.95;2.95	5.52	4.66	0.58398	.	0.196918	0.56097	N	0.000038	T	0.02970	0.0088	N	0.00926	-1.1	0.33133	D	0.543378	B;B;B;B	0.11235	0.003;0.0;0.0;0.004	B;B;B;B	0.10450	0.002;0.002;0.001;0.005	T	0.27606	-1.0069	10	0.02654	T	1	.	10.2799	0.43532	0.0:0.1477:0.6992:0.1531	.	143;183;243;243	D6RBE9;D6RBL5;E7ENQ5;P08758	.;.;.;ANXA5_HUMAN	C	243;243;183;143	ENSP00000296511:S243C;ENSP00000424106:S183C;ENSP00000424199:S143C	ENSP00000296511:S243C	S	-	2	0	ANXA5	122810611	1.000000	0.71417	0.938000	0.37757	0.986000	0.74619	2.399000	0.44495	1.285000	0.44548	0.655000	0.94253	TCT		0.333	ANXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256636.2		NM_001154		8	51	0	0	0	0.006214	0	8	51		
ADAMTS16	170690	broad.mit.edu	37	5	5186206	5186206	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:5186206G>A	ENST00000274181.7	+	5	943	c.805G>A	c.(805-807)Gat>Aat	p.D269N	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.D269N	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	269					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CATCTTGCCAGATGAGTATAA	0.498																																						uc003jdl.2		NaN																	0				ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(805-807)GAT>AAT		ADAM metallopeptidase with thrombospondin type 1							171.0	167.0	169.0					5																	5186206		1936	4142	6078	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5186206G>A	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.805G>A	5.37:g.5186206G>A	ENSP00000274181:p.Asp269Asn					ADAMTS16_uc003jdk.1_Missense_Mutation_p.D269N|ADAMTS16_uc003jdj.1_Missense_Mutation_p.D269N	p.D269N	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			5	943	+			269					C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.805G>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564032	0.65651	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.62639	0.14;0.01	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.80099	0.4561	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.83275	0.996;0.991;0.979	T	0.77632	-0.2515	10	0.29301	T	0.29	.	18.2225	0.89906	0.0:0.0:1.0:0.0	.	269;269;269	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	N	269	ENSP00000274181:D269N;ENSP00000421631:D269N	ENSP00000274181:D269N	D	+	1	0	ADAMTS16	5239206	1.000000	0.71417	0.364000	0.25888	0.015000	0.08874	8.656000	0.91102	2.593000	0.87608	0.655000	0.94253	GAT		0.498	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1		NM_139056		61	166	0	0	0	0.01441	0	61	166		
MTRR	4552	broad.mit.edu	37	5	7895909	7895909	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:7895909C>T	ENST00000264668.2	+	12	1731	c.1701C>T	c.(1699-1701)atC>atT	p.I567I	MTRR_ENST00000440940.2_Silent_p.I540I	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	567					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CAATCCCCATCATAATGGTGG	0.398																																						uc003jed.2		NaN																	0				ovary(1)	1						c.(1699-1701)ATC>ATT		methionine synthase reductase isoform 2	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)						134.0	135.0	135.0					5																	7895909		2203	4300	6503	SO:0001819	synonymous_variant	4552				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	g.chr5:7895909C>T	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.1701C>T	5.37:g.7895909C>T						MTRR_uc003jee.3_Silent_p.I540I|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA	p.I567I	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN			12	1731	+			567					O60471|Q32MA9|Q7Z4M8	Silent	SNP	ENST00000264668.2	37	c.1701C>T	CCDS3874.1																																																																																				0.398	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1				52	110	0	0	0	0.01441	0	52	110		
MTMR12	54545	broad.mit.edu	37	5	32229905	32229905	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:32229905G>A	ENST00000382142.3	-	16	2393	c.2223C>T	c.(2221-2223)ttC>ttT	p.F741F	MTMR12_ENST00000280285.5_Silent_p.F687F|MTMR12_ENST00000264934.5_Silent_p.F631F|MTMR12_ENST00000510216.1_5'Flank	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	741						cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CTAGGTCCACGAACTCATCTT	0.512																																						uc003jhq.2		NaN																	0				ovary(1)	1						c.(2221-2223)TTC>TTT		myotubularin related protein 12							151.0	133.0	139.0					5																	32229905		2203	4300	6503	SO:0001819	synonymous_variant	54545					cytoplasm	phosphatase activity	g.chr5:32229905G>A	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.2223C>T	5.37:g.32229905G>A						MTMR12_uc010iuk.2_Silent_p.F687F|MTMR12_uc010iul.2_Silent_p.F631F	p.F741F	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN			16	2393	-			741					Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Silent	SNP	ENST00000382142.3	37	c.2223C>T	CCDS34138.1																																																																																				0.512	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1		NM_019061		18	51	0	0	0	0.007413	0	18	51		
MTMR12	54545	broad.mit.edu	37	5	32230145	32230145	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:32230145C>T	ENST00000382142.3	-	16	2153	c.1983G>A	c.(1981-1983)ctG>ctA	p.L661L	MTMR12_ENST00000280285.5_Silent_p.L607L|MTMR12_ENST00000264934.5_Silent_p.L551L|MTMR12_ENST00000510216.1_5'Flank	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	661						cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AGAGTTTGCTCAGAGTGGCCA	0.572																																						uc003jhq.2		NaN																	0				ovary(1)	1						c.(1981-1983)CTG>CTA		myotubularin related protein 12							102.0	111.0	108.0					5																	32230145		2203	4300	6503	SO:0001819	synonymous_variant	54545					cytoplasm	phosphatase activity	g.chr5:32230145C>T	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.1983G>A	5.37:g.32230145C>T						MTMR12_uc010iuk.2_Silent_p.L607L|MTMR12_uc010iul.2_Silent_p.L551L	p.L661L	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN			16	2153	-			661					Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Silent	SNP	ENST00000382142.3	37	c.1983G>A	CCDS34138.1																																																																																				0.572	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1		NM_019061		9	184	0	0	0	0.008291	0	9	184		
FBXO4	26272	broad.mit.edu	37	5	41929974	41929974	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:41929974G>A	ENST00000281623.3	+	3	657	c.601G>A	c.(601-603)Gag>Aag	p.E201K	FBXO4_ENST00000509134.1_Missense_Mutation_p.E201K|FBXO4_ENST00000296812.2_Missense_Mutation_p.E201K	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	201					positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				GATGTCTTCAGAGGAACTTTG	0.398																																						uc003jmq.2		NaN																	0				liver(1)	1						c.(601-603)GAG>AAG		F-box only protein 4 isoform 1							254.0	237.0	243.0					5																	41929974		2203	4300	6503	SO:0001583	missense	26272				positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity	g.chr5:41929974G>A	AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"""F-boxes /  ""other"""""	13583	protein-coding gene	gene with protein product		609090	"""F-box only protein 4"""			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.601G>A	5.37:g.41929974G>A	ENSP00000281623:p.Glu201Lys					FBXO4_uc003jmp.2_Missense_Mutation_p.E201K|FBXO4_uc003jmr.2_Missense_Mutation_p.E201K	p.E201K	NM_012176	NP_036308	Q9UKT5	FBX4_HUMAN			3	657	+		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)	201					Q68CU8|Q86VT8|Q9UK98	Missense_Mutation	SNP	ENST00000281623.3	37	c.601G>A	CCDS3938.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502603	0.44455	.	.	ENSG00000151876	ENST00000296812;ENST00000281623;ENST00000509134	T;T;T	0.40756	1.02;1.02;1.02	5.76	2.54	0.30619	.	0.405610	0.28624	N	0.014686	T	0.18467	0.0443	N	0.08118	0	0.31409	N	0.675721	B;B;B	0.18863	0.031;0.005;0.023	B;B;B	0.15484	0.006;0.002;0.013	T	0.15549	-1.0433	10	0.18276	T	0.48	-5.3322	6.5352	0.22350	0.2082:0.4985:0.2933:0.0	.	201;201;201	D6RAJ6;Q9UKT5;Q9UKT5-2	.;FBX4_HUMAN;.	K	201	ENSP00000296812:E201K;ENSP00000281623:E201K;ENSP00000421749:E201K	ENSP00000281623:E201K	E	+	1	0	FBXO4	41965731	0.511000	0.26179	0.855000	0.33649	0.988000	0.76386	0.849000	0.27723	0.742000	0.32697	0.655000	0.94253	GAG		0.398	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211614.1				56	170	0	0	0	0.01441	0	56	170		
CCNH	902	broad.mit.edu	37	5	86700789	86700789	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:86700789C>G	ENST00000256897.4	-	5	785	c.561G>C	c.(559-561)ttG>ttC	p.L187F	CCNH_ENST00000513499.1_5'UTR|CCNH_ENST00000508855.1_Missense_Mutation_p.L113F|CCNH_ENST00000504878.1_Missense_Mutation_p.L113F	NM_001239.3	NP_001230.1	P51946	CCNH_HUMAN	cyclin H	187					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cyclin-dependent protein kinase activating kinase holoenzyme complex (GO:0019907)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|TFIIK complex (GO:0070985)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		CTGTTTTCCTCAAAATCTCTG	0.373								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																														uc003kjb.2		NaN																	0				ovary(2)|kidney(1)	3						c.(559-561)TTG>TTC	Direct_reversal_of_damage|NER	cyclin H							97.0	100.0	99.0					5																	86700789		2203	4300	6503	SO:0001583	missense	902				G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding	g.chr5:86700789C>G	U12685	CCDS4064.1	5q13.3-q14	2014-03-28			ENSG00000134480	ENSG00000134480		"""General transcription factor IIH complex subunits"""	1594	protein-coding gene	gene with protein product	"""CDK-activating kinase complex subunit"", ""cyclin-dependent kinase-activating kinase complex subunit"", ""MO15-associated protein"", ""CAK complex subunit"""	601953				9465303	Standard	NM_001239		Approved	p34, p37, CycH	uc003kjb.3	P51946	OTTHUMG00000119077	ENST00000256897.4:c.561G>C	5.37:g.86700789C>G	ENSP00000256897:p.Leu187Phe					CCNH_uc003kiy.1_Intron|CCNH_uc003kiz.1_Missense_Mutation_p.L134F|CCNH_uc003kja.2_Missense_Mutation_p.L134F	p.L187F	NM_001239	NP_001230	P51946	CCNH_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)	5	793	-		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	187					Q53X72|Q8TBL9	Missense_Mutation	SNP	ENST00000256897.4	37	c.561G>C	CCDS4064.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.583039	0.65992	.	.	ENSG00000134480	ENST00000508855;ENST00000256897;ENST00000504878	T;T;T	0.51071	0.72;0.72;0.72	5.47	3.35	0.38373	Cyclin-like (2);	0.000000	0.85682	D	0.000000	T	0.58793	0.2147	M	0.89287	3.02	0.80722	D	1	D;P	0.53745	0.962;0.915	P;B	0.47346	0.544;0.409	T	0.68492	-0.5394	10	0.59425	D	0.04	-4.8113	11.7489	0.51837	0.0:0.7829:0.0:0.2171	.	187;134	P51946;E9PDB6	CCNH_HUMAN;.	F	113;187;113	ENSP00000426454:L113F;ENSP00000256897:L187F;ENSP00000426075:L113F	ENSP00000256897:L187F	L	-	3	2	CCNH	86736545	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	1.798000	0.38814	1.301000	0.44836	-0.150000	0.13652	TTG		0.373	CCNH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239291.3		NM_001239		5	63	0	0	0	0.00308	0	5	63		
GPR98	84059	broad.mit.edu	37	5	90106693	90106693	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:90106693G>A	ENST00000405460.2	+	74	15712	c.15616G>A	c.(15616-15618)Gat>Aat	p.D5206N	GPR98_ENST00000425867.2_Missense_Mutation_p.D867N	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5206					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGAAAAGCCTGATGTGGCCAC	0.463																																						uc003kju.2		NaN																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(15616-15618)GAT>AAT		G protein-coupled receptor 98 precursor							79.0	77.0	78.0					5																	90106693		1956	4180	6136	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90106693G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.15616G>A	5.37:g.90106693G>A	ENSP00000384582:p.Asp5206Asn					GPR98_uc003kjt.2_Missense_Mutation_p.D2912N|GPR98_uc003kjw.2_Missense_Mutation_p.D867N	p.D5206N	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	74	15712	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5206			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.15616G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.864668	0.32977	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.32988	1.46;1.43	5.17	4.3	0.51218	.	0.567291	0.16849	N	0.197012	T	0.19644	0.0472	N	0.22421	0.69	0.24303	N	0.995116	B;B;B	0.09022	0.002;0.0;0.001	B;B;B	0.08055	0.002;0.0;0.003	T	0.16660	-1.0395	9	.	.	.	.	10.0084	0.41970	0.0942:0.0:0.9058:0.0	.	867;5206;867	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	N	5206;5206;867	ENSP00000384582:D5206N;ENSP00000392618:D867N	.	D	+	1	0	GPR98	90142449	0.987000	0.35691	0.486000	0.27416	0.809000	0.45718	1.826000	0.39092	1.327000	0.45338	0.563000	0.77884	GAT		0.463	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2		NM_032119		5	50	0	0	0	0.001168	0	5	50		
FER	2241	broad.mit.edu	37	5	108516587	108516587	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:108516587G>A	ENST00000281092.4	+	18	2572	c.2188G>A	c.(2188-2190)Gaa>Aaa	p.E730K	FER_ENST00000438717.2_Missense_Mutation_p.E555K	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	730	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			E -> G (in Ref. 3; BAG61714). {ECO:0000305}.	actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GACAGCACCGGAAGCTCTTAA	0.373																																					Colon(146;1051 1799 9836 27344 47401)	uc003kop.1		NaN																	0				lung(2)|stomach(1)|ovary(1)|kidney(1)	5						c.(2188-2190)GAA>AAA		fer (fps/fes related) tyrosine kinase							84.0	81.0	82.0					5																	108516587		2202	4300	6502	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108516587G>A	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.2188G>A	5.37:g.108516587G>A	ENSP00000281092:p.Glu730Lys					FER_uc011cvg.1_Missense_Mutation_p.E555K	p.E730K	NM_005246	NP_005237	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	18	2572	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	730	E -> G (in Ref. 2; BAG61714).		Protein kinase.		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.2188G>A	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	G	34	5.374322	0.95923	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.70282	-0.47;-0.47	5.63	5.63	0.86233	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92224	0.7534	H	0.99705	4.715	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95515	0.8589	10	0.87932	D	0	-30.5261	19.6891	0.95991	0.0:0.0:1.0:0.0	.	730	P16591	FER_HUMAN	K	730;555	ENSP00000281092:E730K;ENSP00000394297:E555K	ENSP00000281092:E730K	E	+	1	0	FER	108544486	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.864000	0.99589	2.641000	0.89580	0.650000	0.86243	GAA		0.373	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1		NM_005246		10	52	0	0	0	0.008291	0	10	52		
WDR36	134430	broad.mit.edu	37	5	110462533	110462533	+	Silent	SNP	C	C	T	rs79307023		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:110462533C>T	ENST00000513710.2	+	23	2812	c.2808C>T	c.(2806-2808)ttC>ttT	p.F936F	WDR36_ENST00000506538.2_Silent_p.F936F			Q8NI36	WDR36_HUMAN	WD repeat domain 36	936					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		AATCACTCTTCAATCAAAGCA	0.323																																						uc003kpd.2		NaN																	0				ovary(1)|skin(1)	2						c.(2806-2808)TTC>TTT		WD repeat domain 36		C		3,4401	6.2+/-15.9	0,3,2199	59.0	62.0	61.0		2808	3.2	1.0	5	dbSNP_131	61	0,8600		0,0,4300	no	coding-synonymous	WDR36	NM_139281.2		0,3,6499	TT,TC,CC		0.0,0.0681,0.0231		936/952	110462533	3,13001	2202	4300	6502	SO:0001819	synonymous_variant	134430				response to stimulus|rRNA processing|visual perception	small-subunit processome		g.chr5:110462533C>T	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.2808C>T	5.37:g.110462533C>T						WDR36_uc010jbu.2_RNA	p.F936F	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	23	2925	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)	936					A2RUS4|Q68E02|Q8N1Q2	Silent	SNP	ENST00000513710.2	37	c.2808C>T	CCDS4102.1																																																																																				0.323	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3		NM_139281		5	35	0	0	0	0.014758	0	5	35		
RAD50	10111	broad.mit.edu	37	5	131931309	131931309	+	Nonsense_Mutation	SNP	C	C	T	rs142947311		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:131931309C>T	ENST00000265335.6	+	13	2401	c.2014C>T	c.(2014-2016)Cag>Tag	p.Q672*	RAD50_ENST00000378823.3_Nonsense_Mutation_p.Q533*			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	672	Zinc-hook. {ECO:0000255|PROSITE- ProRule:PRU00471}.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTTCATTACTCAGCTAACAGA	0.383								Homologous recombination																														uc003kxi.2		NaN																	0				lung(2)|ovary(1)|skin(1)	4						c.(2014-2016)CAG>TAG	Homologous_recombination	RAD50 homolog isoform 1		C	stop/GLN	1,4405	2.1+/-5.4	0,1,2202	85.0	74.0	78.0		2014	6.1	1.0	5	dbSNP_134	78	0,8600		0,0,4300	no	stop-gained	RAD50	NM_005732.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		672/1313	131931309	1,13005	2203	4300	6503	SO:0001587	stop_gained	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131931309C>T	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.2014C>T	5.37:g.131931309C>T	ENSP00000265335:p.Gln672*					RAD50_uc003kxh.2_Nonsense_Mutation_p.Q533*	p.Q672*	NM_005732	NP_005723	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		13	2401	+		all_cancers(142;0.0368)|Breast(839;0.198)	672			Zinc-hook.|Potential.		B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Nonsense_Mutation	SNP	ENST00000265335.6	37	c.2014C>T	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	C	39	7.361816	0.98235	2.27E-4	0.0	ENSG00000113522	ENST00000378823;ENST00000265335;ENST00000453394	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.901	15.3849	0.74691	0.1393:0.8607:0.0:0.0	.	.	.	.	X	533;672;611	.	ENSP00000265335:Q672X	Q	+	1	0	RAD50	131959208	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.930000	0.70104	2.885000	0.99019	0.655000	0.94253	CAG		0.383	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5		NM_005732		5	46	0	0	0	0.014758	0	5	46		
SEC24A	10802	broad.mit.edu	37	5	134007548	134007548	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:134007548C>T	ENST00000398844.2	+	4	1077	c.789C>T	c.(787-789)taC>taT	p.Y263Y	SEC24A_ENST00000322887.4_Silent_p.Y263Y	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	263					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACAGTAGTTACGACGAGATTG	0.313																																						uc003kzs.2		NaN																	0					0						c.(787-789)TAC>TAT		SEC24 related gene family, member A							138.0	124.0	128.0					5																	134007548		1848	4094	5942	SO:0001819	synonymous_variant	10802				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr5:134007548C>T	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.789C>T	5.37:g.134007548C>T						SEC24A_uc011cxu.1_Missense_Mutation_p.T31M	p.Y263Y	NM_021982	NP_068817	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	1077	+			263					A8MVW3|Q8WUV2|Q96GP7	Silent	SNP	ENST00000398844.2	37	c.789C>T	CCDS43363.1																																																																																				0.313	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1				7	46	0	0	0	0.008291	0	7	46		
PCDHA2	56146	broad.mit.edu	37	5	140175779	140175779	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:140175779C>A	ENST00000526136.1	+	1	1230	c.1230C>A	c.(1228-1230)gaC>gaA	p.D410E	PCDHA2_ENST00000378132.1_Missense_Mutation_p.D410E|PCDHA2_ENST00000520672.2_Missense_Mutation_p.D410E|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	410	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGCTGGACAGCGCCCTGG	0.622																																						uc003lhd.2		NaN																	0				ovary(4)	4						c.(1228-1230)GAC>GAA		protocadherin alpha 2 isoform 1 precursor							154.0	137.0	143.0					5																	140175779		2203	4300	6503	SO:0001583	missense	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140175779C>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1230C>A	5.37:g.140175779C>A	ENSP00000431748:p.Asp410Glu					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.D410E|PCDHA2_uc011czy.1_Missense_Mutation_p.D410E	p.D410E	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1336	+			410			Cadherin 4.|Extracellular (Potential).		O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1230C>A	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	c	4.943	0.175258	0.09391	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.50001	0.76;0.76;0.76	3.98	1.91	0.25777	Cadherin (4);Cadherin-like (1);	0.598474	0.13664	U	0.371393	T	0.33673	0.0871	L	0.33710	1.025	0.09310	N	1	B;B;B	0.27853	0.042;0.191;0.042	B;B;B	0.31946	0.051;0.138;0.051	T	0.23726	-1.0180	10	0.40728	T	0.16	.	4.6096	0.12395	0.0:0.3838:0.2789:0.3373	.	410;410;410	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	E	410	ENSP00000430584:D410E;ENSP00000367372:D410E;ENSP00000431748:D410E	ENSP00000367372:D410E	D	+	3	2	PCDHA2	140155963	0.000000	0.05858	0.991000	0.47740	0.202000	0.24057	-1.258000	0.02863	0.786000	0.33708	0.650000	0.86243	GAC		0.622	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3		NM_018905		18	147	1	0	5.03518e-11	0.007413	5.68828e-11	18	147		
PCDHB5	26167	broad.mit.edu	37	5	140515575	140515575	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:140515575G>C	ENST00000231134.5	+	1	776	c.559G>C	c.(559-561)Gat>Cat	p.D187H		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	187	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAATCGCGGAGATGGCAGAAA	0.517																																						uc003liq.2		NaN																	0				skin(3)|ovary(2)	5						c.(559-561)GAT>CAT		protocadherin beta 5 precursor							78.0	79.0	78.0					5																	140515575		2203	4300	6503	SO:0001583	missense	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140515575G>C	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.559G>C	5.37:g.140515575G>C	ENSP00000231134:p.Asp187His						p.D187H	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	776	+			187			Cadherin 2.|Extracellular (Potential).		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.559G>C	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726306	0.48833	.	.	ENSG00000113209	ENST00000231134	T	0.20200	2.09	5.18	5.18	0.71444	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.52629	0.1746	M	0.85710	2.77	0.39405	D	0.966657	D	0.64830	0.994	D	0.70935	0.971	T	0.60546	-0.7242	9	0.62326	D	0.03	.	19.0581	0.93074	0.0:0.0:1.0:0.0	.	187	Q9Y5E4	PCDB5_HUMAN	H	187	ENSP00000231134:D187H	ENSP00000231134:D187H	D	+	1	0	PCDHB5	140495759	0.076000	0.21285	0.995000	0.50966	0.575000	0.36095	1.917000	0.39996	2.581000	0.87130	0.555000	0.69702	GAT		0.517	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1		NM_015669		8	59	0	0	0	0.00308	0	8	59		
HDAC3	8841	broad.mit.edu	37	5	141008783	141008783	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:141008783C>T	ENST00000305264.3	-	7	646	c.567G>A	c.(565-567)acG>acA	p.T189T	AC008781.7_ENST00000422040.2_RNA	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	189	Histone deacetylase.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of JNK cascade (GO:0046329)|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)|Notch signaling pathway (GO:0007219)|protein deacetylation (GO:0006476)|regulation of mitotic cell cycle (GO:0007346)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|cyclin binding (GO:0030332)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	GGAAGGACACCGTCATGACCC	0.498																																						uc003llf.2		NaN																	0				ovary(1)	1						c.(565-567)ACG>ACA		histone deacetylase 3	Vorinostat(DB02546)						125.0	107.0	113.0					5																	141008783		2203	4300	6503	SO:0001819	synonymous_variant	8841				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding	g.chr5:141008783C>T	AF059650	CCDS4264.1	5q31.1-q31.2	2008-07-18			ENSG00000171720	ENSG00000171720	3.5.1.98		4854	protein-coding gene	gene with protein product		605166				9501169, 9464271	Standard	NM_003883		Approved	RPD3, HD3, RPD3-2	uc003llf.2	O15379	OTTHUMG00000129629	ENST00000305264.3:c.567G>A	5.37:g.141008783C>T						HDAC3_uc003lle.1_Silent_p.T132T|HDAC3_uc010jgd.1_Silent_p.T114T|HDAC3_uc010jge.1_RNA	p.T189T	NM_003883	NP_003874	O15379	HDAC3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	633	-			189			Histone deacetylase.		D3DQE1|O43268|Q9UEI5|Q9UEV0	Silent	SNP	ENST00000305264.3	37	c.567G>A	CCDS4264.1																																																																																				0.498	HDAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251824.2		NM_003883		4	43	0	0	0	0.009096	0	4	43		
GRIA1	2890	broad.mit.edu	37	5	153144153	153144153	+	Nonsense_Mutation	SNP	C	C	A	rs149931571		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:153144153C>A	ENST00000285900.5	+	12	2326	c.1983C>A	c.(1981-1983)taC>taA	p.Y661*	GRIA1_ENST00000518783.1_Nonsense_Mutation_p.Y671*|GRIA1_ENST00000518142.1_Nonsense_Mutation_p.Y581*|GRIA1_ENST00000340592.5_Nonsense_Mutation_p.Y661*|GRIA1_ENST00000521843.2_Nonsense_Mutation_p.Y592*|GRIA1_ENST00000448073.4_Nonsense_Mutation_p.Y671*	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	661					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	AAATTGCCTACGGGACGCTGG	0.502																																						uc003lva.3		NaN																	0				ovary(4)|skin(2)	6						c.(1981-1983)TAC>TAA		glutamate receptor, ionotropic, AMPA 1 isoform	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						103.0	86.0	92.0					5																	153144153		2203	4300	6503	SO:0001587	stop_gained	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153144153C>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1983C>A	5.37:g.153144153C>A	ENSP00000285900:p.Tyr661*					GRIA1_uc003luy.3_Nonsense_Mutation_p.Y661*|GRIA1_uc003luz.3_Nonsense_Mutation_p.Y566*|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Nonsense_Mutation_p.Y581*|GRIA1_uc011dcx.1_Nonsense_Mutation_p.Y592*|GRIA1_uc011dcy.1_Nonsense_Mutation_p.Y671*|GRIA1_uc011dcz.1_Nonsense_Mutation_p.Y671*	p.Y661*	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		12	2348	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	661			Extracellular (Potential).		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Nonsense_Mutation	SNP	ENST00000285900.5	37	c.1983C>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	C	37	6.059828	0.97246	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	.	.	.	5.27	-10.5	0.00291	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	24.4384	0.99990	0.0:0.0851:0.0:0.9149	.	.	.	.	X	661;661;581;615;661;594;592;671;671	.	ENSP00000285900:Y661X	Y	+	3	2	GRIA1	153124346	0.014000	0.17966	0.125000	0.21846	0.838000	0.47535	-1.057000	0.03486	-2.955000	0.00292	-1.020000	0.02445	TAC		0.502	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3				3	34	1	0	0.004672	0.004672	0.00487042	3	34		
HIVEP1	3096	broad.mit.edu	37	6	12163852	12163852	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:12163852G>A	ENST00000379388.2	+	9	7647	c.7315G>A	c.(7315-7317)Ggt>Agt	p.G2439S	HIVEP1_ENST00000541134.1_Missense_Mutation_p.G304S	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2439					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CAGAACTTTGGGTACTCATAG	0.517																																						uc003nac.2		NaN																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(7315-7317)GGT>AGT		human immunodeficiency virus type I enhancer							101.0	102.0	101.0					6																	12163852		2038	4202	6240	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12163852G>A	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.7315G>A	6.37:g.12163852G>A	ENSP00000368698:p.Gly2439Ser					HIVEP1_uc011diq.1_RNA	p.G2439S	NM_002114	NP_002105	P15822	ZEP1_HUMAN			9	7494	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	2439					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.7315G>A	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349786	0.61183	.	.	ENSG00000095951	ENST00000379388;ENST00000541134;ENST00000542327	T;T	0.28895	3.12;1.59	6.02	4.25	0.50352	.	0.447684	0.16734	N	0.201709	T	0.07863	0.0197	L	0.43923	1.385	0.27702	N	0.945741	P	0.35456	0.502	B	0.27170	0.077	T	0.20009	-1.0288	10	0.20046	T	0.44	-12.2335	7.3237	0.26542	0.3525:0.0:0.6475:0.0	.	2439	P15822	ZEP1_HUMAN	S	2439;304;421	ENSP00000368698:G2439S;ENSP00000445617:G304S	ENSP00000368698:G2439S	G	+	1	0	HIVEP1	12271838	1.000000	0.71417	0.425000	0.26659	0.009000	0.06853	1.977000	0.40589	0.893000	0.36288	-0.122000	0.15005	GGT		0.517	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2		NM_002114		27	72	0	0	0	0.005443	0	27	72		
HIVEP1	3096	broad.mit.edu	37	6	12164328	12164328	+	Silent	SNP	C	C	T	rs376825897		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:12164328C>T	ENST00000379388.2	+	9	8123	c.7791C>T	c.(7789-7791)acC>acT	p.T2597T	HIVEP1_ENST00000541134.1_Silent_p.T462T	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2597					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TCAGCAGGACCGAGTCTCCTC	0.542																																						uc003nac.2		NaN																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(7789-7791)ACC>ACT		human immunodeficiency virus type I enhancer		C		2,4006		0,2,2002	67.0	76.0	73.0		7791	-3.0	0.0	6		73	0,8340		0,0,4170	no	coding-synonymous	HIVEP1	NM_002114.2		0,2,6172	TT,TC,CC		0.0,0.0499,0.0162		2597/2719	12164328	2,12346	2004	4170	6174	SO:0001819	synonymous_variant	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12164328C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.7791C>T	6.37:g.12164328C>T						HIVEP1_uc011diq.1_RNA	p.T2597T	NM_002114	NP_002105	P15822	ZEP1_HUMAN			9	7970	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	2597					B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	ENST00000379388.2	37	c.7791C>T	CCDS43426.1																																																																																				0.542	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2		NM_002114		3	41	0	0	0	0.004672	0	3	41		
ZKSCAN4	387032	broad.mit.edu	37	6	28219395	28219395	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:28219395C>T	ENST00000377294.2	-	1	607	c.364G>A	c.(364-366)Gag>Aag	p.E122K	ZKSCAN4_ENST00000423974.2_Intron	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	122	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						ACCACCTCCTCCCCGCTCTCT	0.592																																						uc003nks.1		NaN																	0				ovary(1)	1						c.(364-366)GAG>AAG		zinc finger with KRAB and SCAN domains 4							27.0	30.0	29.0					6																	28219395		2202	4278	6480	SO:0001583	missense	387032				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28219395C>T	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13854	protein-coding gene	gene with protein product		611643	"""zinc finger protein 307"", ""zinc finger protein 427"""	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.364G>A	6.37:g.28219395C>T	ENSP00000366509:p.Glu122Lys					ZKSCAN4_uc011dlb.1_Intron	p.E122K	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN			1	608	-			122			SCAN box.		B2RE32|Q5U7L4	Missense_Mutation	SNP	ENST00000377294.2	37	c.364G>A	CCDS4647.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762294	0.89932	.	.	ENSG00000187626	ENST00000377294;ENST00000356796	T	0.05025	3.51	4.45	4.45	0.53987	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.08758	0.0217	M	0.68317	2.08	0.80722	D	1	P	0.50819	0.939	P	0.51453	0.67	T	0.01468	-1.1347	9	0.56958	D	0.05	.	12.5173	0.56040	0.1678:0.8322:0.0:0.0	.	122	Q969J2	ZKSC4_HUMAN	K	122;70	ENSP00000366509:E122K	ENSP00000349249:E70K	E	-	1	0	ZKSCAN4	28327374	0.454000	0.25728	0.999000	0.59377	0.993000	0.82548	3.129000	0.50500	2.388000	0.81334	0.655000	0.94253	GAG		0.592	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1		NM_019110		4	37	0	0	0	0.014758	0	4	37		
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	byFrequency	TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												uc003nol.2		NaN																	2	Substitution - Missense(2)		lung(1)|endometrium(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(232-234)CAG>CGG		major histocompatibility complex, class I, A							54.0	57.0	56.0					6																	29910693		2203	4299	6502	SO:0001583	missense	3105	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910693A>G	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.233A>G	6.37:g.29910693A>G	ENSP00000379873:p.Gln78Arg	Multiple Myeloma(9;0.094)				HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Missense_Mutation_p.Q78R|HLA-A_uc003noo.2_Missense_Mutation_p.Q78R|HLA-A_uc010jrr.2_Missense_Mutation_p.Q78R|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Missense_Mutation_p.Q50R|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank	p.Q78R	NM_002116	NP_002107	P30443	1A01_HUMAN			2	233	+			78			Extracellular (Potential).|Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.233A>G	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	9.798	1.179669	0.21787	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00784	5.7;5.7;5.7;5.7	3.72	-4.39	0.03611	MHC class I, alpha chain, alpha1/alpha2 (3);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	1.398580	0.06189	N	0.681068	T	0.00815	0.0027	L	0.56280	1.765	0.09310	N	1	B;P;B;P;B	0.42483	0.0;0.781;0.0;0.781;0.0	B;D;B;D;B	0.71184	0.006;0.972;0.01;0.972;0.01	T	0.44952	-0.9294	10	0.87932	D	0	.	0.9552	0.01384	0.3504:0.1689:0.3159:0.1647	rs41559716	78;78;78;78;78	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	R	78	ENSP00000379873:Q78R;ENSP00000366002:Q78R;ENSP00000366005:Q78R;ENSP00000365998:Q78R	ENSP00000348012:Q78R	Q	+	2	0	HLA-A	30018672	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.990000	0.03732	-0.910000	0.03847	-0.450000	0.05554	CAG		0.657	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1		NM_002116		3	25	0	0	0	0.009096	0	3	25		
MDC1	9656	broad.mit.edu	37	6	30673284	30673284	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:30673284G>C	ENST00000376406.3	-	10	4323	c.3676C>G	c.(3676-3678)Cag>Gag	p.Q1226E	MDC1_ENST00000376405.2_Missense_Mutation_p.Q962E|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1226	Interaction with the PRKDC complex.|Pro-rich.			Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						CTAGTAGCCTGAGAGGTGGGT	0.572								Other conserved DNA damage response genes																														uc003nrg.3		NaN																	0				breast(2)|ovary(1)|kidney(1)	4						c.(3676-3678)CAG>GAG	Other_conserved_DNA_damage_response_genes	mediator of DNA-damage checkpoint 1							148.0	166.0	160.0					6																	30673284		2203	4300	6503	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30673284G>C	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.3676C>G	6.37:g.30673284G>C	ENSP00000365588:p.Gln1226Glu					MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.Q833E	p.Q1226E	NM_014641	NP_055456	Q14676	MDC1_HUMAN			10	4116	-			1226	Missing (in Ref. 2; CAH18685).		Pro-rich.|Interaction with the PRKDC complex.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.3676C>G	CCDS34384.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.303|5.303	0.241259|0.241259	0.10077|0.10077	.|.	.|.	ENSG00000137337|ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000422104|ENST00000417033	T;T|.	0.07216|.	3.21;3.21|.	2.73|2.73	0.601|0.601	0.17529|0.17529	.|.	1.439190|.	0.05279|.	U|.	0.518975|.	T|.	0.11879|.	0.0289|.	L|L	0.33485|0.33485	1.01|1.01	0.09310|0.09310	N|N	1|1	B;B|.	0.20261|.	0.018;0.043|.	B;B|.	0.21917|.	0.007;0.037|.	T|.	0.28586|.	-1.0039|.	10|.	0.27082|0.54805	T|T	0.32|0.06	.|.	2.7735|2.7735	0.05341|0.05341	0.1655:0.0:0.5577:0.2768|0.1655:0.0:0.5577:0.2768	.|.	962;1226|.	Q14676-2;Q14676|.	.;MDC1_HUMAN|.	E|X	1226;962;833|286	ENSP00000365588:Q1226E;ENSP00000365587:Q962E|.	ENSP00000365587:Q962E|ENSP00000408962:S286X	Q|S	-|-	1|2	0|0	MDC1|MDC1	30781263|30781263	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.006000|0.006000	0.05464|0.05464	-0.550000|-0.550000	0.06034|0.06034	0.483000|0.483000	0.27608|0.27608	0.423000|0.423000	0.28283|0.28283	CAG|TCA		0.572	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1		NM_014641		51	205	0	0	0	0.01441	0	51	205		
CCHCR1	54535	broad.mit.edu	37	6	31122287	31122287	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:31122287G>A	ENST00000376266.5	-	4	642	c.520C>T	c.(520-522)Ctg>Ttg	p.L174L	CCHCR1_ENST00000451521.2_Silent_p.L227L|CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396268.3_Silent_p.L263L|CCHCR1_ENST00000396263.2_Silent_p.L174L	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	174					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						TCTTGGTGCAGCCTCTGAACC	0.547																																						uc003nsr.3		NaN																	0				skin(1)	1						c.(520-522)CTG>TTG		coiled-coil alpha-helical rod protein 1 isoform							334.0	419.0	389.0					6																	31122287		1509	2709	4218	SO:0001819	synonymous_variant	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31122287G>A	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.520C>T	6.37:g.31122287G>A						CCHCR1_uc011dne.1_Silent_p.L174L|CCHCR1_uc003nsq.3_Silent_p.L227L|CCHCR1_uc003nsp.3_Silent_p.L263L|CCHCR1_uc010jsk.1_Silent_p.L174L	p.L174L	NM_019052	NP_061925	Q8TD31	CCHCR_HUMAN			4	643	-			174			Potential.		A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Silent	SNP	ENST00000376266.5	37	c.520C>T	CCDS4695.1																																																																																				0.547	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5		NM_019052		22	474	0	0	0	0.014323	0	22	474		
MICA	100507436	broad.mit.edu	37	6	31378387	31378387	+	Silent	SNP	T	T	C	rs1063631|rs386699190	byFrequency	TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:31378387T>C	ENST00000449934.2	+	2	192	c.138T>C	c.(136-138)ctT>ctC	p.L46L	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				CAGGGTTTCTTGCTGAGGTAC	0.532													c|||	1829	0.365216	0.4788	0.4078	5008	,	,		19543	0.3016		0.3141	False		,,,				2504	0.2996					uc003ntk.1		NaN																	0					0						c.(136-138)CTT>CTC		RecName: Full=MHC class I polypeptide-related sequence A;          Short=MIC-A; Flags: Precursor;		C		573,811		132,309,251	19.0	21.0	21.0		138	-5.8	0.0	6	dbSNP_86	21	881,2301		126,629,836	no	coding-synonymous	MICA	NM_001177519.1		258,938,1087	CC,CT,TT		27.687,41.4017,31.8441		46/333	31378387	1454,3112	692	1591	2283	SO:0001819	synonymous_variant	4276							g.chr6:31378387T>C	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"""Immunoglobulin superfamily / C1-set domain containing"""	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.138T>C	6.37:g.31378387T>C						MICA_uc003rxz.1_5'UTR	p.L46L							2	177	+		Ovarian(999;0.0253)							Silent	SNP	ENST00000449934.2	37	c.138T>C	CCDS56412.1																																																																																				0.532	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7		NM_001177519		3	51	0	0	0	0.004672	0	3	51		
APOBEC2	10930	broad.mit.edu	37	6	41029212	41029212	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:41029212G>A	ENST00000244669.2	+	2	321	c.277G>A	c.(277-279)Gag>Aag	p.E93K		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	93					cytidine deamination (GO:0009972)|DNA demethylation (GO:0080111)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)		cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTAGAGGATGAGCATGCGGC	0.577																																					Ovarian(118;1320 2185 8096 29684)	uc003opl.2		NaN																	0					0						c.(277-279)GAG>AAG		apolipoprotein B mRNA editing enzyme, catalytic							108.0	94.0	99.0					6																	41029212		2203	4300	6503	SO:0001583	missense	10930				DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding	g.chr6:41029212G>A	AF161698	CCDS4848.1	6p21	2008-02-05			ENSG00000124701	ENSG00000124701		"""Apolipoprotein B mRNA editing enzymes"""	605	protein-coding gene	gene with protein product		604797				10403781	Standard	NM_006789		Approved	ARCD1, ARP1	uc003opl.3	Q9Y235	OTTHUMG00000014670	ENST00000244669.2:c.277G>A	6.37:g.41029212G>A	ENSP00000244669:p.Glu93Lys					UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.2_Intron	p.E93K	NM_006789	NP_006780	Q9Y235	ABEC2_HUMAN			2	424	+	Ovarian(28;0.0418)|Colorectal(47;0.196)		93					B2R899|Q53F28|Q5TGU5|Q5TGU6	Missense_Mutation	SNP	ENST00000244669.2	37	c.277G>A	CCDS4848.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844314	0.71488	.	.	ENSG00000124701	ENST00000244669	T	0.66099	-0.19	5.69	5.69	0.88448	APOBEC-like, N-terminal (1);Cytidine deaminase-like (1);	0.092144	0.64402	D	0.000001	T	0.53206	0.1782	N	0.21324	0.655	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.50964	-0.8765	10	0.02654	T	1	.	18.7927	0.91980	0.0:0.0:1.0:0.0	.	93	Q9Y235	ABEC2_HUMAN	K	93	ENSP00000244669:E93K	ENSP00000244669:E93K	E	+	1	0	APOBEC2	41137190	1.000000	0.71417	0.980000	0.43619	0.694000	0.40290	9.368000	0.97152	2.676000	0.91093	0.655000	0.94253	GAG		0.577	APOBEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040498.1		NM_006789		20	82	0	0	0	0.007413	0	20	82		
SUPT3H	8464	broad.mit.edu	37	6	44797554	44797554	+	Nonstop_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:44797554C>G	ENST00000371459.1	-	11	1118	c.953G>C	c.(952-954)tGa>tCa	p.*318S	SUPT3H_ENST00000371461.2_Nonstop_Mutation_p.*329S|SUPT3H_ENST00000371458.1_Silent_p.L107L|SUPT3H_ENST00000306867.5_Nonstop_Mutation_p.*318S|SUPT3H_ENST00000371460.1_Nonstop_Mutation_p.*329S	NM_001261823.1|NM_003599.3	NP_001248752.1|NP_003590.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	0					chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	transcription coactivator activity (GO:0003713)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						GTTGTCACATCAGCAGGCTAG	0.368																																						uc003oxo.2		NaN																	0				ovary(2)|breast(1)	3						c.(985-987)TGA>TCA		suppressor of Ty 3 homolog isoform 2							182.0	176.0	178.0					6																	44797554		2203	4299	6502	SO:0001578	stop_lost	8464				histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity	g.chr6:44797554C>G	AF069734	CCDS34465.1, CCDS34466.1, CCDS75464.1	6p21.1-p12.3	2008-05-15	2001-11-28		ENSG00000196284	ENSG00000196284			11466	protein-coding gene	gene with protein product		602947	"""suppressor of Ty (S.cerevisiae) 3 homolog"""			9674425, 9726987	Standard	NM_003599		Approved	SPT3, SPT3L	uc003oxp.4	O75486	OTTHUMG00000014773	ENST00000371459.1:c.953G>C	6.37:g.44797554C>G						SUPT3H_uc003oxn.1_Nonstop_Mutation_p.*318S|SUPT3H_uc011dvv.1_Nonstop_Mutation_p.*166S|SUPT3H_uc003oxp.2_Nonstop_Mutation_p.*318S|SUPT3H_uc011dvw.1_Nonstop_Mutation_p.*232S	p.*329S	NM_181356	NP_852001	O75486	SUPT3_HUMAN			13	1304	-			329					A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Nonstop_Mutation	SNP	ENST00000371459.1	37	c.986G>C	CCDS34465.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.892026	0.72524	.	.	ENSG00000196284	ENST00000371460;ENST00000371459;ENST00000306867;ENST00000371461	.	.	.	6.17	3.12	0.35913	.	.	.	.	.	.	.	.	.	.	.	0.19300	N	0.999978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1024	0.30865	0.0:0.6083:0.0:0.3916	.	.	.	.	S	329;318;318;329	.	.	X	-	2	2	SUPT3H	44905532	0.998000	0.40836	0.983000	0.44433	0.835000	0.47333	0.391000	0.20784	0.947000	0.37659	0.655000	0.94253	TGA		0.368	SUPT3H-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106911.2		NM_181356		17	120	0	0	0	0.006122	0	17	120		
ASCC3	10973	broad.mit.edu	37	6	101110370	101110370	+	Missense_Mutation	SNP	C	C	G	rs376452900		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:101110370C>G	ENST00000369162.2	-	15	2673	c.2329G>C	c.(2329-2331)Gat>Cat	p.D777H		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	777	Helicase C-terminal 1. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CTAAAACCATCTGGGAATAAT	0.358																																						uc003pqk.2		NaN																	0				ovary(5)|skin(1)	6						c.(2329-2331)GAT>CAT		activating signal cointegrator 1 complex subunit							87.0	86.0	86.0					6																	101110370		2203	4299	6502	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101110370C>G	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.2329G>C	6.37:g.101110370C>G	ENSP00000358159:p.Asp777His					ASCC3_uc011eai.1_Missense_Mutation_p.D679H	p.D777H	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	15	2658	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	777			Helicase C-terminal 1.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.2329G>C	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.546613	0.45383	.	.	ENSG00000112249	ENST00000369162	D	0.90955	-2.76	5.52	5.52	0.82312	Helicase, C-terminal (2);	0.178457	0.49916	D	0.000136	T	0.78591	0.4307	N	0.25245	0.725	0.80722	D	1	B	0.10296	0.003	B	0.13407	0.009	T	0.73369	-0.4004	10	0.16896	T	0.51	.	19.8176	0.96576	0.0:1.0:0.0:0.0	.	777	Q8N3C0	HELC1_HUMAN	H	777	ENSP00000358159:D777H	ENSP00000358159:D777H	D	-	1	0	ASCC3	101217091	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.935000	0.70145	2.765000	0.95021	0.650000	0.86243	GAT		0.358	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2		NM_006828		4	35	0	0	0	0.009096	0	4	35		
LAMA2	3908	broad.mit.edu	37	6	129674484	129674484	+	Missense_Mutation	SNP	G	G	C	rs371388948		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:129674484G>C	ENST00000421865.2	+	32	4748	c.4699G>C	c.(4699-4701)Gag>Cag	p.E1567Q		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1567	Laminin EGF-like 17. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCATGCACGCGAGGGCTGGGA	0.537																																						uc003qbn.2		NaN																	0				ovary(8)|breast(1)|skin(1)	10						c.(4699-4701)GAG>CAG		laminin alpha 2 subunit isoform a precursor							108.0	90.0	96.0					6																	129674484		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129674484G>C	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4699G>C	6.37:g.129674484G>C	ENSP00000400365:p.Glu1567Gln					LAMA2_uc003qbo.2_Missense_Mutation_p.E1567Q	p.E1567Q	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	32	4804	+			1567			Laminin EGF-like 17.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.4699G>C	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	9.993	1.231463	0.22626	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.54279	0.58	5.75	3.93	0.45458	EGF-like, laminin (3);	0.246336	0.41500	N	0.000878	T	0.12987	0.0315	N	0.05619	-0.005	0.29759	N	0.835673	B;B	0.20988	0.05;0.028	B;B	0.24974	0.057;0.053	T	0.23547	-1.0185	10	0.12766	T	0.61	.	12.5046	0.55973	0.0:0.2375:0.6393:0.1232	.	1567;1567	A6NF00;P24043	.;LAMA2_HUMAN	Q	1567	ENSP00000400365:E1567Q	ENSP00000346769:E1567Q	E	+	1	0	LAMA2	129716177	1.000000	0.71417	0.930000	0.37139	0.992000	0.81027	5.491000	0.66887	0.744000	0.32741	0.460000	0.39030	GAG		0.537	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1				4	64	0	0	0	0.009096	0	4	64		
SNX9	51429	broad.mit.edu	37	6	158296183	158296183	+	Missense_Mutation	SNP	C	C	T	rs140767756	byFrequency	TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:158296183C>T	ENST00000392185.3	+	4	446	c.275C>T	c.(274-276)tCg>tTg	p.S92L	RP11-52J3.2_ENST00000422776.1_RNA|RP11-52J3.2_ENST00000457427.1_RNA	NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	92					cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		CAGGCCAGTTCGTCGGCTGCC	0.488													C|||	2	0.000399361	0.0	0.0	5008	,	,		17036	0.002		0.0	False		,,,				2504	0.0					uc003qqv.1		NaN																	0					0						c.(274-276)TCG>TTG		sorting nexin 9		C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	86.0	73.0	77.0		275	4.2	0.0	6	dbSNP_134	77	0,8600		0,0,4300	no	missense	SNX9	NM_016224.3	145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	92/596	158296183	1,13005	2203	4300	6503	SO:0001583	missense	51429				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	g.chr6:158296183C>T	AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"""Sorting nexins"""	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.275C>T	6.37:g.158296183C>T	ENSP00000376024:p.Ser92Leu						p.S92L	NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)	4	448	+		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)	92					Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Missense_Mutation	SNP	ENST00000392185.3	37	c.275C>T	CCDS5253.1	.	.	.	.	.	.	.	.	.	.	C	3.638	-0.074036	0.07184	2.27E-4	0.0	ENSG00000130340	ENST00000539592;ENST00000392185	T	0.48836	0.8	5.09	4.19	0.49359	.	1.244300	0.05359	N	0.533338	T	0.11067	0.0270	N	0.14661	0.345	0.09310	N	0.999996	B	0.06786	0.001	B	0.04013	0.001	T	0.44081	-0.9351	10	0.15066	T	0.55	-0.6616	9.5056	0.39044	0.0:0.8934:0.0:0.1066	.	92	Q9Y5X1	SNX9_HUMAN	L	92	ENSP00000376024:S92L	ENSP00000376024:S92L	S	+	2	0	SNX9	158216171	0.039000	0.19947	0.000000	0.03702	0.010000	0.07245	2.896000	0.48656	-1.530000	0.01751	-1.028000	0.02416	TCG		0.488	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1				6	56	0	0	0	0.001984	0	6	56		
MAP3K4	4216	broad.mit.edu	37	6	161455436	161455436	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:161455436C>T	ENST00000392142.4	+	2	446	c.298C>T	c.(298-300)Cag>Tag	p.Q100*	MAP3K4_ENST00000348824.7_Nonsense_Mutation_p.Q100*|MAP3K4_ENST00000366920.2_Nonsense_Mutation_p.Q100*|MAP3K4_ENST00000366919.2_Nonsense_Mutation_p.Q100*|MAP3K4_ENST00000446500.1_3'UTR	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	100					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AACCAAACATCAGAGGAATAA	0.448																																						uc003qtn.2		NaN																	0				ovary(3)|lung(3)|skin(2)|stomach(1)	9						c.(298-300)CAG>TAG		mitogen-activated protein kinase kinase kinase 4							67.0	70.0	69.0					6																	161455436		2203	4300	6503	SO:0001587	stop_gained	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161455436C>T	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.298C>T	6.37:g.161455436C>T	ENSP00000375986:p.Gln100*					MAP3K4_uc010kkc.1_Nonsense_Mutation_p.Q100*|MAP3K4_uc003qto.2_Nonsense_Mutation_p.Q100*|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR	p.Q100*	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	2	440	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	100					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Nonsense_Mutation	SNP	ENST00000392142.4	37	c.298C>T	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	C	37	5.982070	0.97168	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824;ENST00000544209;ENST00000448119	.	.	.	5.37	5.37	0.77165	.	0.153542	0.44688	D	0.000439	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-27.0623	19.5337	0.95240	0.0:1.0:0.0:0.0	.	.	.	.	X	100;100;100;100;100;79;9	.	ENSP00000297332:Q100X	Q	+	1	0	MAP3K4	161375426	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	5.661000	0.68025	2.692000	0.91855	0.558000	0.71614	CAG		0.448	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3				5	44	0	0	0	0.014758	0	5	44		
DLL1	28514	broad.mit.edu	37	6	170592161	170592161	+	Missense_Mutation	SNP	G	G	A	rs201177310		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:170592161G>A	ENST00000366756.3	-	10	2414	c.2081C>T	c.(2080-2082)tCg>tTg	p.S694L		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	694					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TGAACAGCCCGAGTCCGGCCT	0.468																																						uc003qxm.2		NaN																	0				lung(4)|ovary(1)	5						c.(2080-2082)TCG>TTG		delta-like 1 precursor		G	LEU/SER	0,4406		0,0,2203	148.0	155.0	153.0		2081	5.3	0.0	6		153	2,8598	2.2+/-6.3	0,2,4298	yes	missense	DLL1	NM_005618.3	145	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	694/724	170592161	2,13004	2203	4300	6503	SO:0001583	missense	28514				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170592161G>A	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.2081C>T	6.37:g.170592161G>A	ENSP00000355718:p.Ser694Leu						p.S694L	NM_005618	NP_005609	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	10	2551	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	694			Cytoplasmic (Potential).		B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Missense_Mutation	SNP	ENST00000366756.3	37	c.2081C>T	CCDS5313.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705465	0.48412	0.0	2.33E-4	ENSG00000198719	ENST00000366756	D	0.86627	-2.15	5.28	5.28	0.74379	.	0.546785	0.22311	N	0.061739	T	0.80813	0.4695	M	0.73319	2.225	0.38821	D	0.955621	P	0.45986	0.87	B	0.29862	0.108	D	0.86150	0.1587	10	0.72032	D	0.01	.	19.2832	0.94060	0.0:0.0:1.0:0.0	.	694	O00548	DLL1_HUMAN	L	694	ENSP00000355718:S694L	ENSP00000355718:S694L	S	-	2	0	DLL1	170434086	1.000000	0.71417	0.023000	0.16930	0.002000	0.02628	5.793000	0.69060	2.642000	0.89623	0.655000	0.94253	TCG		0.468	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1				19	123	0	0	0	0.012319	0	19	123		
CCZ1	51622	broad.mit.edu	37	7	5944726	5944726	+	Splice_Site	SNP	A	A	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:5944726A>G	ENST00000325974.6	+	7	590	c.524A>G	c.(523-525)tAt>tGt	p.Y175C	CCZ1_ENST00000537980.1_Splice_Site_p.Y32C	NM_015622.5	NP_056437.4	P86791	CCZ1_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae)	175						lysosome (GO:0005764)|membrane (GO:0016020)				large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	6						TTCCCACAGTATTTGCAAACG	0.333																																						uc003spf.2		NaN																	0					0						c.(523-525)TAT>TGT		hypothetical protein LOC51622							86.0	85.0	85.0					7																	5944726		2177	4298	6475	SO:0001630	splice_region_variant	51622					lysosomal membrane		g.chr7:5944726A>G	AF151801	CCDS34597.1	7p22.1	2014-02-13	2010-06-29	2010-06-29	ENSG00000122674	ENSG00000122674			21691	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 28A"""	C7orf28A		10810093, 20305638	Standard	NM_015622		Approved	CGI-43, CCZ1A	uc003spf.3	P86791	OTTHUMG00000155502	ENST00000325974.6:c.523-1A>G	7.37:g.5944726A>G							p.Y175C	NM_015622	NP_056437	P86791	CCZ1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)|OV - Ovarian serous cystadenocarcinoma(56;7.91e-15)	7	614	+		Ovarian(82;0.0694)	175					A2RU45|O95766|Q9UG65|Q9Y359	Missense_Mutation	SNP	ENST00000325974.6	37	c.524A>G	CCDS34597.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.086189	0.76642	.	.	ENSG00000122674	ENST00000325974;ENST00000537980	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.80325	0.4602	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83084	-0.0136	9	0.87932	D	0	-19.3535	15.4129	0.74941	1.0:0.0:0.0:0.0	.	175	P86790	CCZ1L_HUMAN	C	175;32	.	ENSP00000325681:Y175C	Y	+	2	0	CCZ1	5911252	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.221000	0.95188	2.237000	0.73441	0.528000	0.53228	TAT		0.333	CCZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340391.1		NM_015622	Missense_Mutation	11	92	0	0	0	0.008291	0	11	92		
EEPD1	80820	broad.mit.edu	37	7	36194706	36194706	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:36194706G>T	ENST00000242108.4	+	2	1491	c.773G>T	c.(772-774)aGg>aTg	p.R258M	EEPD1_ENST00000534978.1_Missense_Mutation_p.R258M	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	258					DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						AGGGATGGGAGGCCTGTGCTG	0.647																																						uc003tfa.2		NaN																	0					0						c.(772-774)AGG>ATG		endonuclease/exonuclease/phosphatase family							45.0	43.0	44.0					7																	36194706		2203	4300	6503	SO:0001583	missense	80820				DNA repair		DNA binding	g.chr7:36194706G>T	AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.773G>T	7.37:g.36194706G>T	ENSP00000242108:p.Arg258Met						p.R258M	NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN			2	1413	+			258					Q96K64|Q9C0F7	Missense_Mutation	SNP	ENST00000242108.4	37	c.773G>T	CCDS34619.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219758	0.39201	.	.	ENSG00000122547	ENST00000242108;ENST00000534978	T;T	0.27104	1.69;1.69	5.38	4.5	0.54988	.	0.179987	0.47852	D	0.000211	T	0.16854	0.0405	N	0.14661	0.345	0.39324	D	0.965295	P	0.37955	0.612	B	0.39419	0.299	T	0.08785	-1.0705	10	0.87932	D	0	-23.2985	9.5389	0.39240	0.1611:0.0:0.8389:0.0	.	258	Q7L9B9	EEPD1_HUMAN	M	258	ENSP00000242108:R258M;ENSP00000442692:R258M	ENSP00000242108:R258M	R	+	2	0	EEPD1	36161231	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	1.810000	0.38932	1.270000	0.44297	0.655000	0.94253	AGG		0.647	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1		NM_030636		8	23	1	0	0.00621372	0.006214	0.00645271	8	23		
PKD1L1	168507	broad.mit.edu	37	7	47924229	47924229	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:47924229G>C	ENST00000289672.2	-	19	3282	c.3232C>G	c.(3232-3234)Caa>Gaa	p.Q1078E		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1078	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ATTGCTTCTTGAATGTCACTG	0.448																																						uc003tny.1		NaN																	0				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(3232-3234)CAA>GAA		polycystin-1L1							148.0	131.0	137.0					7																	47924229		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47924229G>C	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.3232C>G	7.37:g.47924229G>C	ENSP00000289672:p.Gln1078Glu						p.Q1078E	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			19	3232	-			1078			Extracellular (Potential).|REJ.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.3232C>G	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515733	0.44763	.	.	ENSG00000158683	ENST00000289672	T	0.20332	2.08	5.76	2.61	0.31194	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.920322	0.09055	N	0.855181	T	0.24812	0.0602	L	0.33485	1.01	0.21386	N	0.999708	D	0.61697	0.99	P	0.54759	0.76	T	0.16424	-1.0403	10	0.27082	T	0.32	-4.6321	7.5194	0.27618	0.0:0.2873:0.4917:0.221	.	1078	Q8TDX9	PK1L1_HUMAN	E	1078	ENSP00000289672:Q1078E	ENSP00000289672:Q1078E	Q	-	1	0	PKD1L1	47890754	0.996000	0.38824	0.696000	0.30242	0.821000	0.46438	0.802000	0.27069	0.746000	0.32786	0.650000	0.86243	CAA		0.448	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1		NM_138295		7	34	0	0	0	0.00308	0	7	34		
BAZ1B	9031	broad.mit.edu	37	7	72856883	72856883	+	Splice_Site	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:72856883C>G	ENST00000339594.4	-	19	4433	c.4095G>C	c.(4093-4095)agG>agC	p.R1365S	BAZ1B_ENST00000404251.1_Splice_Site_p.R1365S	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1365	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCACAGGCTCCCTGTGGAGAA	0.552																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	uc003tyc.2		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7						c.(4093-4095)AGG>AGC		bromodomain adjacent to zinc finger domain, 1B							72.0	72.0	72.0					7																	72856883		2203	4300	6503	SO:0001630	splice_region_variant	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72856883C>G	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.4095-1G>C	7.37:g.72856883C>G							p.R1365S	NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN			19	4440	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	1365			Bromo.		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.4095G>C	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136331	0.77662	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.26518	1.73;1.73	5.91	5.03	0.67393	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.44138	0.1279	L	0.50919	1.6	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.19745	-1.0296	10	0.30854	T	0.27	.	14.5614	0.68140	0.0:0.9297:0.0:0.0703	.	1365	Q9UIG0	BAZ1B_HUMAN	S	1365	ENSP00000342434:R1365S;ENSP00000385442:R1365S	ENSP00000342434:R1365S	R	-	3	2	BAZ1B	72494819	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.733000	0.38156	1.504000	0.48704	0.655000	0.94253	AGG		0.552	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4		NM_032408	Missense_Mutation	8	63	0	0	0	0.00308	0	8	63		
CYP3A5	1577	broad.mit.edu	37	7	99264653	99264653	+	Silent	SNP	G	G	A	rs372748297		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:99264653G>A	ENST00000222982.4	-	5	453	c.354C>T	c.(352-354)atC>atT	p.I118I	CYP3A5_ENST00000343703.5_Silent_p.I108I|CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000480723.1_5'UTR	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5	118					alkaloid catabolic process (GO:0009822)|drug catabolic process (GO:0042737)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				ado-trastuzumab emtansine(DB05773)|Alfentanil(DB00802)|Alprazolam(DB00404)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Artemether(DB06697)|Astemizole(DB00637)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Beclomethasone(DB00394)|Boceprevir(DB08873)|Brentuximab vedotin(DB08870)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clonidine(DB00575)|Clopidogrel(DB00758)|Cocaine(DB00907)|Codeine(DB00318)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diltiazem(DB00343)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Dutasteride(DB01126)|Enzalutamide(DB08899)|Eplerenone(DB00700)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Ethosuximide(DB00593)|Etoposide(DB00773)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gestodene(DB06730)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Losartan(DB00678)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Modafinil(DB00745)|Mycophenolate mofetil(DB00688)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Pentamidine(DB00738)|Perampanel(DB08883)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rosuvastatin(DB01098)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Teniposide(DB00444)|Testosterone(DB00624)|Thalidomide(DB01041)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vardenafil(DB00862)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CAGCTAAAGAGATGGCACTTT	0.398																																						uc003urq.2		NaN																	0					0						c.(352-354)ATC>ATT		cytochrome P450, family 3, subfamily A,	Alfentanil(DB00802)|Clopidogrel(DB00758)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Indinavir(DB00224)|Irinotecan(DB00762)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Mephenytoin(DB00532)|Midazolam(DB00683)|Mifepristone(DB00834)|Phenytoin(DB00252)|Quinine(DB00468)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Troleandomycin(DB01361)|Verapamil(DB00661)|Vincristine(DB00541)	G		0,4406		0,0,2203	108.0	97.0	101.0		354	-1.9	0.0	7		101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CYP3A5	NM_000777.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		118/503	99264653	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1577				alkaloid catabolic process|drug catabolic process|oxidative demethylation|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr7:99264653G>A	L26985	CCDS5672.1, CCDS55134.1	7q21.1	2007-12-14	2003-01-14		ENSG00000106258	ENSG00000106258		"""Cytochrome P450s"""	2638	protein-coding gene	gene with protein product		605325	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5"""				Standard	NR_033808		Approved	PCN3, P450PCN3, CP35		P20815	OTTHUMG00000156724	ENST00000222982.4:c.354C>T	7.37:g.99264653G>A						ZNF498_uc003urn.2_Intron|CYP3A5_uc003urp.2_5'UTR|CYP3A5_uc003urr.2_Silent_p.I5I|CYP3A5_uc011kiy.1_Silent_p.I108I|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	p.I118I	NM_000777	NP_000768	P20815	CP3A5_HUMAN			5	441	-	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)		118					A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	Silent	SNP	ENST00000222982.4	37	c.354C>T	CCDS5672.1																																																																																				0.398	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345469.1				6	45	0	0	0	0.001984	0	6	45		
MUC17	140453	broad.mit.edu	37	7	100682288	100682288	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:100682288G>C	ENST00000306151.4	+	3	7655	c.7591G>C	c.(7591-7593)Gag>Cag	p.E2531Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2531	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCCAGTCCTGAGGCTAGCAC	0.478																																						uc003uxp.1		NaN																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(7591-7593)GAG>CAG		mucin 17 precursor							247.0	262.0	257.0					7																	100682288		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100682288G>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7591G>C	7.37:g.100682288G>C	ENSP00000302716:p.Glu2531Gln					MUC17_uc010lho.1_RNA	p.E2531Q	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	7644	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2531			Extracellular (Potential).|40.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.7591G>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	1.533	-0.543935	0.04053	.	.	ENSG00000169876	ENST00000306151	T	0.02682	4.2	0.37	0.37	0.16160	.	.	.	.	.	T	0.01730	0.0055	L	0.29908	0.895	0.09310	N	1	P	0.47604	0.898	B	0.37550	0.253	T	0.42716	-0.9435	9	0.13853	T	0.58	.	3.4019	0.07327	1.0E-4:1.0E-4:0.5476:0.4522	.	2531	Q685J3	MUC17_HUMAN	Q	2531	ENSP00000302716:E2531Q	ENSP00000302716:E2531Q	E	+	1	0	MUC17	100469008	0.000000	0.05858	0.007000	0.13788	0.136000	0.21042	-1.410000	0.02480	0.469000	0.27268	0.134000	0.15878	GAG		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1		NM_001040105		47	341	0	0	0	0.01441	0	47	341		
POT1	25913	broad.mit.edu	37	7	124503417	124503417	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:124503417G>A	ENST00000357628.3	-	8	1131	c.533C>T	c.(532-534)tCa>tTa	p.S178L	POT1_ENST00000393329.1_Missense_Mutation_p.S47L	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	178					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TAGAAGAAATGATGCTCCGTC	0.378																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	uc003vlm.2		NaN																	0				central_nervous_system(1)	1						c.(532-534)TCA>TTA		protection of telomeres 1 isoform 1							91.0	88.0	89.0					7																	124503417		2203	4299	6502	SO:0001583	missense	25913				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	g.chr7:124503417G>A	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.533C>T	7.37:g.124503417G>A	ENSP00000350249:p.Ser178Leu					POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Missense_Mutation_p.S47L|POT1_uc003vln.2_RNA	p.S178L	NM_015450	NP_056265	Q9NUX5	POTE1_HUMAN			8	1134	-			178					O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	ENST00000357628.3	37	c.533C>T	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585394	0.86748	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391	T;T	0.46819	0.86;0.9	5.38	5.38	0.77491	Nucleic acid-binding, OB-fold-like (1);	0.323743	0.34338	N	0.004055	T	0.65037	0.2653	M	0.63843	1.955	0.45307	D	0.998306	D	0.76494	0.999	D	0.68765	0.96	T	0.59862	-0.7374	10	0.26408	T	0.33	-2.4847	18.1143	0.89546	0.0:0.0:1.0:0.0	.	178	Q9NUX5	POTE1_HUMAN	L	178;47;178;178;178;177	ENSP00000350249:S178L;ENSP00000377002:S47L	ENSP00000265391:S177L	S	-	2	0	POT1	124290653	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.443000	0.66581	2.512000	0.84698	0.650000	0.86243	TCA		0.378	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1				6	63	0	0	0	0.001984	0	6	63		
LRRC4	64101	broad.mit.edu	37	7	127669984	127669984	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:127669984G>C	ENST00000249363.3	-	2	967	c.710C>G	c.(709-711)tCc>tGc	p.S237C	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	237					postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GCCATGGAAGGAGCCAGGCCT	0.562																																						uc003vmk.2		NaN																	0				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						c.(709-711)TCC>TGC		leucine rich repeat containing 4 precursor							39.0	36.0	37.0					7																	127669984		2203	4298	6501	SO:0001583	missense	64101					cell junction|integral to membrane|postsynaptic membrane		g.chr7:127669984G>C	AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"""Immunoglobulin superfamily / I-set domain containing"""	15586	protein-coding gene	gene with protein product		610486	"""leucine-rich repeat-containing 4"""			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.710C>G	7.37:g.127669984G>C	ENSP00000249363:p.Ser237Cys					SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	p.S237C	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN		Lung(243;0.124)	2	847	-			237			LRR 7.|Extracellular (Potential).		A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Missense_Mutation	SNP	ENST00000249363.3	37	c.710C>G	CCDS5799.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763822	0.49574	.	.	ENSG00000128594	ENST00000249363	T	0.59906	0.23	4.7	4.7	0.59300	.	0.165039	0.40222	U	0.001155	T	0.73265	0.3565	M	0.65677	2.01	0.58432	D	0.999991	D	0.89917	1.0	D	0.72982	0.979	T	0.76473	-0.2946	10	0.72032	D	0.01	.	15.1891	0.73028	0.0:0.0:1.0:0.0	.	237	Q9HBW1	LRRC4_HUMAN	C	237	ENSP00000249363:S237C	ENSP00000249363:S237C	S	-	2	0	LRRC4	127457220	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.561000	0.73955	2.408000	0.81797	0.655000	0.94253	TCC		0.562	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1		NM_022143		9	42	0	0	0	0.004482	0	9	42		
TNPO3	23534	broad.mit.edu	37	7	128641272	128641272	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:128641272G>A	ENST00000265388.5	-	6	856	c.713C>T	c.(712-714)tCg>tTg	p.S238L	TNPO3_ENST00000471234.1_Missense_Mutation_p.S238L|TNPO3_ENST00000393245.1_Missense_Mutation_p.S238L|TNPO3_ENST00000471166.1_Missense_Mutation_p.S238L|TNPO3_ENST00000482320.1_Missense_Mutation_p.S172L			Q9Y5L0	TNPO3_HUMAN	transportin 3	238					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TAGGTTAGACGAGGTCTTATC	0.478																																					Pancreas(147;583 2585 39696 52331)	uc003vol.1		NaN																	0				ovary(2)|skin(2)|lung(1)	5						c.(712-714)TCG>TTG		transportin 3							198.0	170.0	180.0					7																	128641272		2203	4300	6503	SO:0001583	missense	23534				splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	g.chr7:128641272G>A	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.713C>T	7.37:g.128641272G>A	ENSP00000265388:p.Ser238Leu					TNPO3_uc003vom.1_Missense_Mutation_p.S172L|TNPO3_uc010lly.1_Missense_Mutation_p.S238L|TNPO3_uc010llz.1_Missense_Mutation_p.S238L	p.S238L	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN			6	1087	-			238					A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	ENST00000265388.5	37	c.713C>T	CCDS5809.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910519	0.72983	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.57	5.57	0.84162	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.058063	0.64402	D	0.000001	T	0.46776	0.1410	M	0.68952	2.095	0.58432	D	0.999993	P;P;B	0.52061	0.827;0.95;0.092	B;P;B	0.44811	0.129;0.461;0.057	T	0.36696	-0.9737	10	0.23891	T	0.37	-10.3061	17.3957	0.87444	0.0:0.0:1.0:0.0	.	238;238;238	C9IZM0;C9J7E5;Q9Y5L0	.;.;TNPO3_HUMAN	L	238;238;172;238;238	ENSP00000376936:S238L;ENSP00000265388:S238L;ENSP00000420089:S172L;ENSP00000418646:S238L;ENSP00000418267:S238L	ENSP00000265388:S238L	S	-	2	0	TNPO3	128428508	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.736000	0.98828	2.785000	0.95823	0.650000	0.86243	TCG		0.478	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1		NM_012470		12	106	0	0	0	0.016723	0	12	106		
SVOPL	136306	broad.mit.edu	37	7	138312990	138312990	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:138312990C>T	ENST00000419765.3	-	10	1015	c.982G>A	c.(982-984)Ggg>Agg	p.G328R	SVOPL_ENST00000436657.1_Missense_Mutation_p.G176R|SVOPL_ENST00000288513.5_Missense_Mutation_p.G176R|SVOPL_ENST00000463557.1_5'Flank|SVOPL_ENST00000421622.1_Missense_Mutation_p.G208R	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	328						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						TGGCTCTCCCCTGAGTCCCCC	0.567																																						uc011kqh.1		NaN																	0					0						c.(982-984)GGG>AGG		SVOP-like isoform 1							113.0	103.0	106.0					7																	138312990		2203	4300	6503	SO:0001583	missense	136306					integral to membrane	transmembrane transporter activity	g.chr7:138312990C>T	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.982G>A	7.37:g.138312990C>T	ENSP00000405482:p.Gly328Arg					SVOPL_uc003vue.2_Missense_Mutation_p.G176R	p.G328R	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN			10	982	-			328						Missense_Mutation	SNP	ENST00000419765.3	37	c.982G>A	CCDS47721.1	.	.	.	.	.	.	.	.	.	.	C	2.820	-0.244929	0.05906	.	.	ENSG00000157703	ENST00000288513;ENST00000421622;ENST00000436657;ENST00000419765	T;T;T;T	0.74002	-0.04;0.05;-0.04;-0.8	4.47	3.6	0.41247	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.815701	0.11721	N	0.535853	T	0.53094	0.1775	N	0.08118	0	0.36247	D	0.853625	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.49380	-0.8946	10	0.16896	T	0.51	-2.8069	10.7649	0.46288	0.0:0.9117:0.0:0.0883	.	328;176	Q8N434;Q8N434-2	SVOPL_HUMAN;.	R	176;208;176;328	ENSP00000288513:G176R;ENSP00000412830:G208R;ENSP00000417018:G176R;ENSP00000405482:G328R	ENSP00000288513:G176R	G	-	1	0	SVOPL	137963530	0.946000	0.32159	0.058000	0.19502	0.221000	0.24807	1.991000	0.40727	1.096000	0.41439	0.467000	0.42956	GGG		0.567	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4		NM_174959		6	49	0	0	0	0.001168	0	6	49		
EPHB6	2051	broad.mit.edu	37	7	142567711	142567711	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:142567711G>A	ENST00000392957.2	+	17	3386	c.2599G>A	c.(2599-2601)Gag>Aag	p.E867K	EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000442129.1_Missense_Mutation_p.E867K|EPHB6_ENST00000411471.2_Missense_Mutation_p.E590K	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	867	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGACATGAGTGAGCAGGAGGT	0.498																																						uc011kst.1		NaN																	0				lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19						c.(2599-2601)GAG>AAG		ephrin receptor EphB6 precursor							149.0	116.0	127.0					7																	142567711		2203	4300	6503	SO:0001583	missense	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142567711G>A	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.2599G>A	7.37:g.142567711G>A	ENSP00000376684:p.Glu867Lys					EPHB6_uc011ksu.1_Missense_Mutation_p.E867K|EPHB6_uc003wbs.2_Missense_Mutation_p.E575K|EPHB6_uc003wbt.2_Missense_Mutation_p.E341K|EPHB6_uc003wbu.2_Missense_Mutation_p.E575K|EPHB6_uc003wbv.2_Missense_Mutation_p.E251K	p.E867K	NM_004445	NP_004436	O15197	EPHB6_HUMAN			17	3386	+	Melanoma(164;0.059)		867			Cytoplasmic (Potential).|Protein kinase.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.2599G>A	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820915	0.71028	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	D;D;D	0.82344	-1.6;-1.6;-1.6	5.69	5.69	0.88448	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.431247	0.19568	N	0.111171	T	0.69922	0.3165	N	0.16266	0.395	0.37362	D	0.91125	B;B	0.24317	0.101;0.082	B;B	0.20955	0.032;0.019	T	0.70662	-0.4810	10	0.87932	D	0	.	8.3574	0.32338	0.1659:0.0:0.8341:0.0	.	867;590	O15197;O15197-2	EPHB6_HUMAN;.	K	867;867;590	ENSP00000376684:E867K;ENSP00000410789:E867K;ENSP00000409061:E590K	ENSP00000376684:E867K	E	+	1	0	EPHB6	142277833	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.360000	0.79487	2.682000	0.91365	0.563000	0.77884	GAG		0.498	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1				6	33	0	0	0	0.001168	0	6	33		
AOC1	26	broad.mit.edu	37	7	150558223	150558223	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:150558223C>G	ENST00000493429.1	+	7	2766	c.2182C>G	c.(2182-2184)Cgc>Ggc	p.R728G	AOC1_ENST00000360937.4_Missense_Mutation_p.R728G|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000416793.2_Missense_Mutation_p.R747G|AOC1_ENST00000467291.1_Missense_Mutation_p.R728G			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	728					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	CTACGTCCAGCGCTGGATCCC	0.607																																						uc003why.1		NaN																	0				ovary(2)|breast(2)|skin(2)	6						c.(2182-2184)CGC>GGC		amiloride binding protein 1 precursor	Amiloride(DB00594)|Spermine(DB00127)						56.0	63.0	60.0					7																	150558223		2033	4183	6216	SO:0001583	missense	26				amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	g.chr7:150558223C>G	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.2182C>G	7.37:g.150558223C>G	ENSP00000418614:p.Arg728Gly					ABP1_uc003whz.1_Missense_Mutation_p.R728G|ABP1_uc003wia.1_Missense_Mutation_p.R747G	p.R728G	NM_001091	NP_001082	P19801	ABP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	6	6400	+	all_neural(206;0.219)		728					C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.2182C>G	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.326097	0.60743	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714	T;T;T;T	0.03580	3.88;3.88;3.88;3.88	4.84	3.95	0.45737	Copper amine oxidase, C-terminal (1);	1.043680	0.07616	N	0.926260	T	0.04497	0.0123	N	0.08118	0	0.51233	D	0.999917	P;P	0.52842	0.956;0.803	P;B	0.48873	0.593;0.122	T	0.55224	-0.8174	10	0.48119	T	0.1	-21.8495	12.2176	0.54414	0.1717:0.8283:0.0:0.0	.	747;728	C9J690;P19801	.;ABP1_HUMAN	G	728;728;728;747;604	ENSP00000418614:R728G;ENSP00000418328:R728G;ENSP00000354193:R728G;ENSP00000411613:R747G	ENSP00000354193:R728G	R	+	1	0	ABP1	150189156	0.993000	0.37304	1.000000	0.80357	0.893000	0.52053	0.377000	0.20552	1.015000	0.39444	0.305000	0.20034	CGC		0.607	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1		NM_001091		5	32	0	0	0	0.014758	0	5	32		
ASB10	136371	broad.mit.edu	37	7	150878047	150878047	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:150878047G>A	ENST00000420175.2	-	3	1107	c.1083C>T	c.(1081-1083)gtC>gtT	p.V361V	ASB10_ENST00000377867.3_Silent_p.V346V|ASB10_ENST00000434669.1_Silent_p.V406V|ASB10_ENST00000275838.1_Silent_p.V361V|ASB10_ENST00000422024.1_Silent_p.V406V			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	361					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCCTGGCCAGACACGGACGG	0.692																																						uc003wjm.1		NaN																	0					0						c.(1216-1218)GTC>GTT		ankyrin repeat and SOCS box-containing 10							11.0	11.0	11.0					7																	150878047		2176	4245	6421	SO:0001819	synonymous_variant	136371				intracellular signal transduction			g.chr7:150878047G>A	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.1083C>T	7.37:g.150878047G>A						ASB10_uc003wjl.1_Silent_p.V406V|ASB10_uc003wjn.1_Silent_p.V346V	p.V406V	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1344	-			361			ANK 7.		A0AVH0|Q6ZUL6	Silent	SNP	ENST00000420175.2	37	c.1218C>T	CCDS47750.2																																																																																				0.692	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3		NM_080871		4	12	0	0	0	0.009096	0	4	12		
TEX15	56154	broad.mit.edu	37	8	30694583	30694583	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr8:30694583G>C	ENST00000256246.2	-	3	8142	c.8068C>G	c.(8068-8070)Cct>Gct	p.P2690A		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2690					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)					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)		AGCCCAGAAGGAGATGGCTGT	0.453																																						uc003xil.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(8068-8070)CCT>GCT		testis expressed 15							138.0	133.0	135.0					8																	30694583		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30694583G>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.8068C>G	8.37:g.30694583G>C	ENSP00000256246:p.Pro2690Ala						p.P2690A	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	3	8068	-			2690						Missense_Mutation	SNP	ENST00000256246.2	37	c.8068C>G	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	9.597	1.127712	0.20959	.	.	ENSG00000133863	ENST00000256246	T	0.11821	2.74	5.6	0.221	0.15283	.	0.277574	0.26317	N	0.025073	T	0.08403	0.0209	L	0.29908	0.895	0.09310	N	1	P	0.38827	0.649	B	0.37422	0.249	T	0.19811	-1.0294	10	0.87932	D	0	.	4.7631	0.13118	0.3335:0.0:0.5293:0.1372	.	2690	Q9BXT5	TEX15_HUMAN	A	2690	ENSP00000256246:P2690A	ENSP00000256246:P2690A	P	-	1	0	TEX15	30814125	0.006000	0.16342	0.001000	0.08648	0.172000	0.22775	0.530000	0.23036	-0.169000	0.10834	-0.897000	0.02905	CCT		0.453	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1				8	74	0	0	0	0.004482	0	8	74		
ZNF704	619279	broad.mit.edu	37	8	81577165	81577165	+	Missense_Mutation	SNP	G	G	C	rs145837256		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr8:81577165G>C	ENST00000327835.3	-	6	1043	c.812C>G	c.(811-813)cCa>cGa	p.P271R	ZNF704_ENST00000520336.1_5'Flank	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	271							metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			GCTTGAATCTGGGATGGGGAA	0.577																																						uc003yby.1		NaN																	0					0						c.(811-813)CCA>CGA		zinc finger protein 704							131.0	116.0	121.0					8																	81577165		2203	4300	6503	SO:0001583	missense	619279					intracellular	zinc ion binding	g.chr8:81577165G>C	AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.812C>G	8.37:g.81577165G>C	ENSP00000331462:p.Pro271Arg						p.P271R	NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)		6	1044	-	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		271					B2RNE6|B9EGW6	Missense_Mutation	SNP	ENST00000327835.3	37	c.812C>G	CCDS34913.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.203645	0.38905	.	.	ENSG00000164684	ENST00000327835	D	0.88818	-2.43	6.07	5.02	0.67125	.	0.396048	0.31301	N	0.007883	T	0.78547	0.4300	N	0.16478	0.41	0.40484	D	0.980477	B	0.33212	0.402	B	0.36766	0.232	T	0.72931	-0.4142	10	0.15499	T	0.54	-13.5238	8.1819	0.31315	0.0871:0.0:0.7141:0.1988	.	271	Q6ZNC4	ZN704_HUMAN	R	271	ENSP00000331462:P271R	ENSP00000331462:P271R	P	-	2	0	ZNF704	81739720	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	4.838000	0.62803	2.890000	0.99128	0.650000	0.86243	CCA		0.577	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379964.2		NM_001033723		5	100	0	0	0	0.014758	0	5	100		
MMP16	4325	broad.mit.edu	37	8	89130948	89130948	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr8:89130948C>A	ENST00000286614.6	-	5	1133	c.852G>T	c.(850-852)caG>caT	p.Q284H	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	284					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TCTGGATGCCCTGTAAATCAT	0.403																																						uc003yeb.3		NaN																	0				upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						c.(850-852)CAG>CAT		matrix metalloproteinase 16 isoform 1							179.0	156.0	164.0					8																	89130948		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89130948C>A	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.852G>T	8.37:g.89130948C>A	ENSP00000286614:p.Gln284His					MMP16_uc003yec.2_Missense_Mutation_p.Q284H	p.Q284H	NM_005941	NP_005932	P51512	MMP16_HUMAN			5	1134	-			284			Extracellular (Potential).		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.852G>T	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.179219	0.38511	.	.	ENSG00000156103	ENST00000286614	T	0.21543	2.0	5.19	0.707	0.18139	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.108681	0.64402	D	0.000004	T	0.21631	0.0521	M	0.62266	1.93	0.53688	D	0.999975	B;B	0.18461	0.028;0.003	B;B	0.23574	0.047;0.019	T	0.08391	-1.0724	10	0.52906	T	0.07	.	10.4256	0.44375	0.0:0.6274:0.0:0.3726	.	284;284	P51512-2;P51512	.;MMP16_HUMAN	H	284	ENSP00000286614:Q284H	ENSP00000286614:Q284H	Q	-	3	2	MMP16	89200064	0.996000	0.38824	1.000000	0.80357	0.994000	0.84299	0.545000	0.23268	0.190000	0.20209	0.557000	0.71058	CAG		0.403	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2		NM_005941		10	56	1	0	0.000673444	0.008291	0.000713058	10	56		
STK3	6788	broad.mit.edu	37	8	99761532	99761532	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr8:99761532G>C	ENST00000419617.2	-	4	463	c.323C>G	c.(322-324)tCa>tGa	p.S108*	STK3_ENST00000523601.1_Nonsense_Mutation_p.S136*	NM_006281.3	NP_006272.2	Q13188	STK3_HUMAN	serine/threonine kinase 3	108	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		AATTATGTCTGAGACAGAGCC	0.323																																						uc003yip.2		NaN																	0				lung(3)|ovary(1)	4						c.(322-324)TCA>TGA		serine/threonine kinase 3							86.0	85.0	85.0					8																	99761532		1901	4156	6057	SO:0001587	stop_gained	6788				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity	g.chr8:99761532G>C	BC010640	CCDS47900.1, CCDS59108.1, CCDS75774.1	8q22.2	2011-05-24	2010-06-25		ENSG00000104375	ENSG00000104375			11406	protein-coding gene	gene with protein product		605030	"""serine/threonine kinase 3 (Ste20, yeast homolog)"""			8816758	Standard	NM_006281		Approved	MST2, KRS1	uc003yip.4	Q13188	OTTHUMG00000164651	ENST00000419617.2:c.323C>G	8.37:g.99761532G>C	ENSP00000390500:p.Ser108*					STK3_uc003yio.2_Nonsense_Mutation_p.S136*|STK3_uc010mbm.1_Nonsense_Mutation_p.S108*	p.S108*	NM_006281	NP_006272	Q13188	STK3_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)	4	464	-	Breast(36;2.4e-06)	Breast(495;0.106)	108			Protein kinase.		A8K722|B3KYA7|Q15445|Q15801|Q96FM6	Nonsense_Mutation	SNP	ENST00000419617.2	37	c.323C>G	CCDS47900.1	.	.	.	.	.	.	.	.	.	.	G	40	8.109907	0.98659	.	.	ENSG00000104375	ENST00000419617;ENST00000523601;ENST00000518165	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	19.6319	0.95708	0.0:0.0:1.0:0.0	.	.	.	.	X	108;136;108	.	ENSP00000390500:S108X	S	-	2	0	STK3	99830708	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.217000	0.95160	2.632000	0.89209	0.655000	0.94253	TCA		0.323	STK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379635.1		NM_006281		11	61	0	0	0	0.016723	0	11	61		
FAM135B	51059	broad.mit.edu	37	8	139268995	139268995	+	Missense_Mutation	SNP	T	T	A	rs199905964		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr8:139268995T>A	ENST00000395297.1	-	5	475	c.305A>T	c.(304-306)gAc>gTc	p.D102V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	102										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)			ACTCAGTGCGTCTTCCATCTG	0.403										HNSCC(54;0.14)																												uc003yuy.2		NaN																	0				ovary(7)|skin(2)	9						c.(304-306)GAC>GTC		hypothetical protein LOC51059							103.0	94.0	97.0					8																	139268995		1909	4139	6048	SO:0001583	missense	51059							g.chr8:139268995T>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.305A>T	8.37:g.139268995T>A	ENSP00000378710:p.Asp102Val	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.D3V|FAM135B_uc003yuz.2_RNA	p.D102V	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		5	476	-	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)		102					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.305A>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	T	18.79	3.699807	0.68501	.	.	ENSG00000147724	ENST00000395297;ENST00000160713	T	0.14893	2.47	5.35	5.35	0.76521	.	0.187527	0.45606	D	0.000341	T	0.19366	0.0465	L	0.43152	1.355	0.80722	D	1	P	0.43477	0.808	B	0.41860	0.368	T	0.01182	-1.1426	10	0.72032	D	0.01	-6.8915	14.7999	0.69906	0.0:0.0:0.0:1.0	.	102	Q49AJ0	F135B_HUMAN	V	102	ENSP00000378710:D102V	ENSP00000160713:D102V	D	-	2	0	FAM135B	139338177	1.000000	0.71417	0.924000	0.36721	0.521000	0.34408	7.827000	0.86722	2.150000	0.67090	0.533000	0.62120	GAC		0.403	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3		NM_015912		4	17	0	0	0	0.009096	0	4	17		
MPDZ	8777	broad.mit.edu	37	9	13147624	13147624	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr9:13147624C>T	ENST00000319217.7	-	26	3911	c.3664G>A	c.(3664-3666)Gaa>Aaa	p.E1222K	MPDZ_ENST00000541718.1_Missense_Mutation_p.E1222K|MPDZ_ENST00000447879.1_Missense_Mutation_p.E1222K|MPDZ_ENST00000381022.2_Missense_Mutation_p.E1222K|MPDZ_ENST00000536827.1_Missense_Mutation_p.E1222K|MPDZ_ENST00000546205.1_Missense_Mutation_p.E1236K|MPDZ_ENST00000381015.4_Missense_Mutation_p.E1222K|MPDZ_ENST00000538841.1_Missense_Mutation_p.E114K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1222	PDZ 7. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ACAGCTTGTTCATGGCTTGCA	0.443																																						uc010mia.1		NaN																	0				ovary(5)|central_nervous_system(1)	6						c.(3664-3666)GAA>AAA		multiple PDZ domain protein							148.0	142.0	144.0					9																	13147624		1927	4123	6050	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13147624C>T	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.3664G>A	9.37:g.13147624C>T	ENSP00000320006:p.Glu1222Lys					MPDZ_uc010mhx.2_Intron|MPDZ_uc011lmm.1_Missense_Mutation_p.E114K|MPDZ_uc003zkz.3_Intron|MPDZ_uc010mhy.2_Missense_Mutation_p.E1222K|MPDZ_uc010mhz.2_Missense_Mutation_p.E1222K|MPDZ_uc011lmn.1_Missense_Mutation_p.E1222K|MPDZ_uc003zlb.3_Missense_Mutation_p.E1222K	p.E1222K	NM_003829	NP_003820	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	25	3721	-			1222			PDZ 7.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.3664G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.491044	0.96339	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000546205	T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.83	5.83	0.93111	.	0.000000	0.45606	D	0.000358	T	0.50565	0.1623	L	0.45051	1.395	0.80722	D	1	D;D;D;D	0.89917	1.0;0.975;1.0;1.0	D;P;D;D	0.91635	0.999;0.908;0.999;0.999	T	0.27839	-1.0062	10	0.38643	T	0.18	.	20.1271	0.97986	0.0:1.0:0.0:0.0	.	1222;114;1222;1222	B7ZMI4;B7ZB24;O75970-3;O75970-2	.;.;.;.	K	1222;1222;1222;114;1222;1222;1222;1236	ENSP00000320006:E1222K;ENSP00000439807:E1222K;ENSP00000370410:E1222K;ENSP00000444717:E114K;ENSP00000444151:E1222K;ENSP00000415208:E1222K;ENSP00000370403:E1222K;ENSP00000446358:E1236K	ENSP00000320006:E1222K	E	-	1	0	MPDZ	13137624	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.463000	0.80869	2.758000	0.94735	0.563000	0.77884	GAA		0.443	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2		NM_003829		8	62	0	0	0	0.00308	0	8	62		
TOPORS	10210	broad.mit.edu	37	9	32544000	32544000	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr9:32544000C>T	ENST00000360538.2	-	3	639	c.523G>A	c.(523-525)Gat>Aat	p.D175N	TOPORS_ENST00000379858.1_Missense_Mutation_p.D110N	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	175	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		AATCGTCGATCAGGGGTGACA	0.448																																						uc003zrb.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(523-525)GAT>AAT		topoisomerase I binding, arginine/serine-rich							157.0	132.0	140.0					9																	32544000		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32544000C>T	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.523G>A	9.37:g.32544000C>T	ENSP00000353735:p.Asp175Asn					TOPORS_uc003zrc.2_Missense_Mutation_p.D108N	p.D175N	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	690	-			175			E3 ubiquitin-protein ligase activity.|Required for DNA-binding.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.523G>A	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.296297	0.40594	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.16196	2.36;2.36	5.33	4.44	0.53790	.	0.560158	0.16338	N	0.218828	T	0.12050	0.0293	N	0.19112	0.55	0.30378	N	0.782263	B	0.28128	0.201	B	0.24155	0.051	T	0.06881	-1.0802	10	0.39692	T	0.17	-1.3709	13.0757	0.59085	0.0:0.9211:0.0:0.0789	.	175	Q9NS56	TOPRS_HUMAN	N	175;110	ENSP00000353735:D175N;ENSP00000369187:D110N	ENSP00000353735:D175N	D	-	1	0	TOPORS	32534000	0.945000	0.32115	0.424000	0.26647	0.333000	0.28666	2.510000	0.45468	1.387000	0.46486	0.655000	0.94253	GAT		0.448	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1		NM_005802		11	63	0	0	0	0.008291	0	11	63		
FANCC	2176	broad.mit.edu	37	9	97897680	97897680	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr9:97897680C>T	ENST00000289081.3	-	8	1045	c.791G>A	c.(790-792)aGt>aAt	p.S264N	FANCC_ENST00000375305.1_Missense_Mutation_p.S264N	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	264					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				ATTTCTCTCACTGGAGATTAG	0.433			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc004avh.2		NaN	yes	Rec		Fanconi anaemia C	9	9q22.3	2176	D|Mis|N|F|S	"""Fanconi anemia, complementation group C"""			L		AML|leukemia			0				kidney(1)	1						c.(790-792)AGT>AAT	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group C							87.0	83.0	85.0					9																	97897680		2203	4300	6503	SO:0001583	missense	2176	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	protein complex assembly	cytosol|nucleoplasm	protein binding	g.chr9:97897680C>T	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"""Fanconi anemia, complementation groups"""	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.791G>A	9.37:g.97897680C>T	ENSP00000289081:p.Ser264Asn					FANCC_uc004avi.3_Missense_Mutation_p.S264N	p.S264N	NM_000136	NP_000127	Q00597	FANCC_HUMAN			8	1053	-		Acute lymphoblastic leukemia(62;0.138)	264					B1ALR8	Missense_Mutation	SNP	ENST00000289081.3	37	c.791G>A	CCDS35071.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969869	0.53614	.	.	ENSG00000158169	ENST00000289081;ENST00000375305	T;T	0.51817	0.69;0.69	5.88	2.93	0.34026	.	0.662303	0.16854	N	0.196834	T	0.37517	0.1006	M	0.63428	1.95	0.23180	N	0.998169	B	0.18461	0.028	B	0.17433	0.018	T	0.32455	-0.9906	10	0.12766	T	0.61	-3.2234	4.5844	0.12275	0.2795:0.5118:0.1352:0.0734	.	264	Q00597	FANCC_HUMAN	N	264	ENSP00000289081:S264N;ENSP00000364454:S264N	ENSP00000289081:S264N	S	-	2	0	FANCC	96937501	0.020000	0.18652	0.954000	0.39281	0.995000	0.86356	0.118000	0.15605	0.334000	0.23590	0.655000	0.94253	AGT		0.433	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053219.1		NM_000136		10	40	0	0	0	0.006214	0	10	40		
CCDC180	100499483	broad.mit.edu	37	9	100082448	100082448	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr9:100082448G>C	ENST00000357054.1	+	25	2604	c.1669G>C	c.(1669-1671)Gag>Cag	p.E557Q	CCDC180_ENST00000529487.1_Missense_Mutation_p.E418Q|CCDC180_ENST00000375202.2_Missense_Mutation_p.E418Q|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000395220.1_Missense_Mutation_p.E517Q|CCDC180_ENST00000411667.2_Missense_Mutation_p.E415Q|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	557						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TCAGCTGACTGAGTGGCATTC	0.498																																						uc011lut.1		NaN																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(1669-1671)GAG>CAG		hypothetical protein LOC57653							266.0	247.0	253.0					9																	100082448		2203	4300	6503	SO:0001583	missense	57653							g.chr9:100082448G>C	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1669G>C	9.37:g.100082448G>C	ENSP00000349562:p.Glu557Gln					KIAA1529_uc004axe.1_Missense_Mutation_p.E557Q|KIAA1529_uc004axg.1_Missense_Mutation_p.E418Q|KIAA1529_uc011lus.1_Missense_Mutation_p.E375Q|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.E418Q|KIAA1529_uc011luv.1_Missense_Mutation_p.E415Q	p.E557Q	NM_020893	NP_065944					23	2442	+		Acute lymphoblastic leukemia(62;0.154)						Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.1669G>C		.	.	.	.	.	.	.	.	.	.	G	13.33	2.205870	0.39003	.	.	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81	4.87	2.95	0.34219	.	0.396714	0.26883	N	0.022011	T	0.40297	0.1111	M	0.62723	1.935	0.20403	N	0.999904	D;P;P;P	0.89917	1.0;0.543;0.732;0.543	D;B;B;B	0.71870	0.975;0.177;0.26;0.177	T	0.12192	-1.0557	10	0.33141	T	0.24	-9.7537	6.9006	0.24281	0.0992:0.2284:0.6723:0.0	.	415;557;418;557	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	Q	557;517;418;415;441;418	ENSP00000349562:E557Q;ENSP00000378646:E517Q;ENSP00000364348:E418Q;ENSP00000414000:E415Q;ENSP00000434727:E418Q	ENSP00000349562:E557Q	E	+	1	0	C9orf174	99122269	0.452000	0.25713	0.078000	0.20375	0.066000	0.16364	0.854000	0.27791	0.630000	0.30394	-0.379000	0.06801	GAG		0.498	CCDC180-201	KNOWN	basic	protein_coding	protein_coding			NM_020893		44	157	0	0	0	0.01441	0	44	157		
SVEP1	79987	broad.mit.edu	37	9	113194246	113194246	+	Missense_Mutation	SNP	A	A	G	rs569537895		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr9:113194246A>G	ENST00000401783.2	-	32	5638	c.5302T>C	c.(5302-5304)Tac>Cac	p.Y1768H	SVEP1_ENST00000374469.1_Missense_Mutation_p.Y1745H	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1768	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAACATATGTAGGATCCATCT	0.378													A|||	1	0.000199681	0.0	0.0014	5008	,	,		19143	0.0		0.0	False		,,,				2504	0.0					uc010mtz.2		NaN																	0				ovary(7)	7						c.(5302-5304)TAC>CAC		polydom							151.0	145.0	147.0					9																	113194246		1971	4171	6142	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113194246A>G	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.5302T>C	9.37:g.113194246A>G	ENSP00000384917:p.Tyr1768His					SVEP1_uc010mty.2_5'Flank	p.Y1768H	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			32	5639	-			1768			EGF-like 7; calcium-binding (Potential).		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.5302T>C	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	A	14.61	2.587034	0.46110	.	.	ENSG00000165124	ENST00000401783;ENST00000374469	D;D	0.94897	-3.55;-3.55	5.62	5.62	0.85841	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.058783	0.64402	D	0.000001	D	0.94594	0.8258	M	0.79614	2.46	0.80722	D	1	P	0.40931	0.733	B	0.42112	0.376	D	0.94293	0.7530	10	0.44086	T	0.13	.	15.8276	0.78727	1.0:0.0:0.0:0.0	.	1768	Q4LDE5	SVEP1_HUMAN	H	1768;1745	ENSP00000384917:Y1768H;ENSP00000363593:Y1745H	ENSP00000363593:Y1745H	Y	-	1	0	SVEP1	112234067	1.000000	0.71417	0.980000	0.43619	0.013000	0.08279	6.580000	0.74040	2.122000	0.65172	0.533000	0.62120	TAC		0.378	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					4	59	0	0	0	0.009096	0	4	59		
SLC25A25	114789	broad.mit.edu	37	9	130868072	130868072	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr9:130868072G>A	ENST00000373064.5	+	6	973	c.710G>A	c.(709-711)gGa>gAa	p.G237E	RP11-395P17.11_ENST00000602939.1_RNA|SLC25A25_ENST00000433501.1_Missense_Mutation_p.G134E|SLC25A25_ENST00000373068.2_Missense_Mutation_p.G271E|SLC25A25_ENST00000373069.5_Missense_Mutation_p.G283E|SLC25A25_ENST00000432073.2_Missense_Mutation_p.G257E|SLC25A25_ENST00000373066.5_Missense_Mutation_p.G269E	NM_052901.4	NP_443133.2	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	237					adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						ATTCGAGAAGGAGGGGCCAGG	0.587																																						uc004bte.2		NaN																	0					0						c.(709-711)GGA>GAA		solute carrier family 25, member 25 isoform a							86.0	76.0	80.0					9																	130868072		2203	4300	6503	SO:0001583	missense	114789				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr9:130868072G>A	AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"""Solute carriers"", ""EF-hand domain containing"""	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373064.5:c.710G>A	9.37:g.130868072G>A	ENSP00000362155:p.Gly237Glu					SLC25A25_uc004btb.2_Missense_Mutation_p.G271E|SLC25A25_uc004btc.2_Missense_Mutation_p.G257E|SLC25A25_uc004btd.2_Missense_Mutation_p.G269E|SLC25A25_uc004btf.2_Missense_Mutation_p.G134E	p.G237E	NM_052901	NP_443133	Q6KCM7	SCMC2_HUMAN			6	739	+			237			Solcar 1.|Mitochondrial matrix (Potential).		Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Missense_Mutation	SNP	ENST00000373064.5	37	c.710G>A	CCDS6890.1	.	.	.	.	.	.	.	.	.	.	G	33	5.268978	0.95429	.	.	ENSG00000148339	ENST00000373068;ENST00000373069;ENST00000432073;ENST00000373066;ENST00000373064;ENST00000433501	T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	5.77	5.77	0.91146	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.78413	0.4279	L	0.35414	1.06	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.996;0.999;1.0	T	0.76484	-0.2942	10	0.39692	T	0.17	-17.2037	18.9865	0.92773	0.0:0.0:1.0:0.0	.	237;269;257;271	Q6KCM7;Q6KCM7-5;Q6KCM7-4;Q6KCM7-2	SCMC2_HUMAN;.;.;.	E	271;283;257;269;237;134	ENSP00000362159:G271E;ENSP00000362160:G283E;ENSP00000410053:G257E;ENSP00000362157:G269E;ENSP00000362155:G237E;ENSP00000401672:G134E	ENSP00000362155:G237E	G	+	2	0	SLC25A25	129907893	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	9.823000	0.99369	2.724000	0.93272	0.561000	0.74099	GGA		0.587	SLC25A25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054407.1		NM_052901		15	75	0	0	0	0.003163	0	15	75		
CARD9	64170	broad.mit.edu	37	9	139262242	139262242	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr9:139262242G>A	ENST00000371732.5	-	8	1281	c.1116C>T	c.(1114-1116)gcC>gcT	p.A372A	CARD9_ENST00000460290.1_5'Flank|CARD9_ENST00000371734.3_Silent_p.A372A	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	372					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GCAGGCCCCGGGCGTGCTGTG	0.701																																						uc004chg.3		NaN																	0				pancreas(1)|lung(1)|skin(1)	3						c.(1114-1116)GCC>GCT		caspase recruitment domain protein 9 isoform 1							31.0	28.0	29.0					9																	139262242		2194	4288	6482	SO:0001819	synonymous_variant	64170				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	g.chr9:139262242G>A	AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.1116C>T	9.37:g.139262242G>A						CARD9_uc011mdw.1_Silent_p.A372A|CARD9_uc011mdx.1_Silent_p.A268A	p.A372A	NM_052813	NP_434700	Q9H257	CARD9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)	8	1282	-		Myeloproliferative disorder(178;0.0511)	372			Potential.		Q5SXM5|Q5SXM6|Q9H854	Silent	SNP	ENST00000371732.5	37	c.1116C>T	CCDS6997.1																																																																																				0.701	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1		NM_052813		5	21	0	0	0	0.014758	0	5	21		
CXorf23	256643	broad.mit.edu	37	X	19973521	19973521	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:19973521G>A	ENST00000379682.4	-	4	1471	c.1438C>T	c.(1438-1440)Cat>Tat	p.H480Y	CXorf23_ENST00000356980.3_Missense_Mutation_p.H480Y|CXorf23_ENST00000379687.3_Missense_Mutation_p.H480Y			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	480						mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TTAACTTGATGGATTATTGTT	0.338																																						uc004czp.2		NaN																	0				lung(1)|skin(1)	2						c.(1438-1440)CAT>TAT		hypothetical protein LOC256643							160.0	132.0	142.0					X																	19973521		2203	4300	6503	SO:0001583	missense	256643					mitochondrion		g.chrX:19973521G>A	AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.1438C>T	X.37:g.19973521G>A	ENSP00000369004:p.His480Tyr					CXorf23_uc010nfn.2_RNA|CXorf23_uc011mjg.1_Missense_Mutation_p.H45Y|CXorf23_uc004czo.2_Missense_Mutation_p.H430Y	p.H480Y	NM_198279	NP_938020	A2AJT9	CX023_HUMAN			4	1438	-			480					A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Missense_Mutation	SNP	ENST00000379682.4	37	c.1438C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.41|18.41	3.618224|3.618224	0.66787|0.66787	.|.	.|.	ENSG00000173681|ENSG00000173681	ENST00000379687;ENST00000379682;ENST00000356980;ENST00000539038|ENST00000340625	T;T;T|.	0.32988|.	1.43;1.43;1.43|.	5.88|5.88	5.02|5.02	0.67125|0.67125	.|.	.|.	.|.	.|.	.|.	T|T	0.64951|0.64951	0.2645|0.2645	M|M	0.77486|0.77486	2.375|2.375	0.31261|0.31261	N|N	0.692941|0.692941	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.992;0.998;0.998|.	T|T	0.70022|0.70022	-0.4986|-0.4986	8|5	.|.	.|.	.|.	.|.	12.2493|12.2493	0.54589|0.54589	0.08:0.0:0.92:0.0|0.08:0.0:0.92:0.0	.|.	191;480;480|.	B7ZLM9;A2AJT9-2;A2AJT9|.	.;.;CX023_HUMAN|.	Y|L	480;480;480;368|88	ENSP00000369009:H480Y;ENSP00000369004:H480Y;ENSP00000349470:H480Y|.	.|.	H|P	-|-	1|2	0|0	CXorf23|CXorf23	19883442|19883442	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.949000|0.949000	0.60115|0.60115	5.074000|5.074000	0.64401|0.64401	1.234000|1.234000	0.43709|0.43709	0.600000|0.600000	0.82982|0.82982	CAT|CCA		0.338	CXorf23-006	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000055991.2		NM_198279		6	50	0	0	0	0.001984	0	6	50		
DCAF8L1	139425	broad.mit.edu	37	X	27998745	27998745	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:27998745C>A	ENST00000441525.1	-	1	821	c.707G>T	c.(706-708)aGt>aTt	p.S236I		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	236										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						ATCGTGACCACTCTCAAAGTT	0.517																																						uc004dbx.1		NaN																	0				ovary(3)|skin(1)	4						c.(706-708)AGT>ATT		DDB1 and CUL4 associated factor 8-like 1							63.0	55.0	58.0					X																	27998745		2202	4300	6502	SO:0001583	missense	139425							g.chrX:27998745C>A		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.707G>T	X.37:g.27998745C>A	ENSP00000405222:p.Ser236Ile						p.S236I	NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN			1	822	-			236					B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	c.707G>T	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.482648	0.44147	.	.	ENSG00000226372	ENST00000441525	T	0.68624	-0.34	0.842	0.842	0.18927	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	T	0.80859	0.4704	M	0.91972	3.26	0.52501	D	0.999955	D	0.71674	0.998	D	0.71414	0.973	T	0.79948	-0.1588	10	0.59425	D	0.04	-13.1332	7.2758	0.26283	0.0:0.9999:0.0:1.0E-4	.	236	A6NGE4	DC8L1_HUMAN	I	236	ENSP00000405222:S236I	ENSP00000405222:S236I	S	-	2	0	DCAF8L1	27908666	1.000000	0.71417	0.052000	0.19188	0.090000	0.18270	2.949000	0.49074	0.691000	0.31592	0.284000	0.19432	AGT		0.517	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2		XM_066690		9	45	1	0	2.74318e-10	0.006214	3.07327e-10	9	45		
TAB3	257397	broad.mit.edu	37	X	30870918	30870918	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:30870918T>A	ENST00000378933.1	-	4	1864	c.1687A>T	c.(1687-1689)Agc>Tgc	p.S563C	TAB3_ENST00000378928.1_Missense_Mutation_p.S14C|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000288422.2_Missense_Mutation_p.S563C|TAB3_ENST00000378932.2_Missense_Mutation_p.S563C|TAB3_ENST00000378930.3_Missense_Mutation_p.S563C	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	563					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GTGGTGCAGCTGACTCTTCTG	0.458																																					Pancreas(164;1598 1985 29022 43301 49529)	uc004dcj.2		NaN																	0				ovary(1)	1						c.(1687-1689)AGC>TGC		mitogen-activated protein kinase kinase kinase 7							185.0	127.0	147.0					X																	30870918		2202	4300	6502	SO:0001583	missense	257397				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chrX:30870918T>A	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.1687A>T	X.37:g.30870918T>A	ENSP00000368215:p.Ser563Cys					TAB3_uc004dck.2_Missense_Mutation_p.S563C|TAB3_uc010ngl.2_Missense_Mutation_p.S563C	p.S563C	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN			7	2350	-			563					A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	c.1687A>T	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.952745	0.92660	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932;ENST00000378928	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.78	5.82	5.82	0.92795	.	0.038831	0.85682	D	0.000000	T	0.79730	0.4496	L	0.29908	0.895	0.51012	D	0.999903	D;D	0.76494	0.998;0.999	D;D	0.79108	0.992;0.962	T	0.82327	-0.0512	10	0.87932	D	0	-3.0935	15.0951	0.72226	0.0:0.0:0.0:1.0	.	563;563	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	C	563;563;563;563;14	ENSP00000368215:S563C;ENSP00000368212:S563C;ENSP00000288422:S563C;ENSP00000368214:S563C	ENSP00000288422:S563C	S	-	1	0	TAB3	30780839	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.678000	0.84035	1.947000	0.56498	0.412000	0.27726	AGC		0.458	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1		NM_152787		4	59	0	0	0	0.014758	0	4	59		
BCOR	54880	broad.mit.edu	37	X	39930940	39930940	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:39930940C>T	ENST00000378444.4	-	5	3229	c.3001G>A	c.(3001-3003)Gaa>Aaa	p.E1001K	BCOR_ENST00000397354.3_Missense_Mutation_p.E1001K|BCOR_ENST00000378455.4_Intron|BCOR_ENST00000342274.4_Missense_Mutation_p.E1001K	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1001					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGTAATCCTTCCATCTATGTA	0.303			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															uc004den.3		NaN		Rec	yes		X	Xp11.4	54880		BCL6 corepressor	yes							0				ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(3001-3003)GAA>AAA		BCL-6 interacting corepressor isoform c							85.0	81.0	82.0					X																	39930940		2202	4297	6499	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39930940C>T	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.3001G>A	X.37:g.39930940C>T	ENSP00000367705:p.Glu1001Lys					BCOR_uc004dep.3_Missense_Mutation_p.E1001K|BCOR_uc004deo.3_Intron|BCOR_uc004dem.3_Missense_Mutation_p.E1001K	p.E1001K	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			5	3293	-			1001					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.3001G>A	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316092	0.81469	.	.	ENSG00000183337	ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	6.17	6.17	0.99709	.	.	.	.	.	T	0.39253	0.1071	L	0.32530	0.975	0.58432	D	0.999995	D;D	0.69078	0.997;0.997	D;D	0.73380	0.98;0.946	T	0.10451	-1.0629	9	0.87932	D	0	-24.005	19.7362	0.96205	0.0:1.0:0.0:0.0	.	1001;1001	Q6W2J9;Q6W2J9-2	BCOR_HUMAN;.	K	1001	ENSP00000380512:E1001K;ENSP00000367705:E1001K;ENSP00000345923:E1001K;ENSP00000384485:E1001K	ENSP00000345923:E1001K	E	-	1	0	BCOR	39815884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.307000	0.78920	2.618000	0.88619	0.600000	0.82982	GAA		0.303	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2		NM_017745		6	45	0	0	0	0.004482	0	6	45		
HSD17B10	3028	broad.mit.edu	37	X	53459194	53459194	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:53459194C>T	ENST00000168216.6	-	3	385		c.e3+1		HSD17B10_ENST00000375298.4_Splice_Site|HSD17B10_ENST00000495986.1_Splice_Site|HSD17B10_ENST00000375304.5_Splice_Site|RP3-339A18.6_ENST00000418049.1_RNA	NM_001037811.2|NM_004493.2	NP_001032900.1|NP_004484.1	Q99714	HCD2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 10						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity (GO:0047015)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|cholate 7-alpha-dehydrogenase activity (GO:0008709)|poly(A) RNA binding (GO:0044822)|testosterone dehydrogenase [NAD(P)] activity (GO:0030283)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	8						CAAGGCCTTACATCAAGAACT	0.502																																						uc004dsl.1		NaN																	0					0						c.e3+1		hydroxysteroid (17-beta) dehydrogenase 10	NADH(DB00157)						87.0	69.0	75.0					X																	53459194		2203	4300	6503	SO:0001630	splice_region_variant	3028				branched chain family amino acid catabolic process|lipid metabolic process|tRNA processing	mitochondrial matrix|plasma membrane	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity|3-hydroxyacyl-CoA dehydrogenase activity|cholate 7-alpha-dehydrogenase activity	g.chrX:53459194C>T	U96132	CCDS14354.1, CCDS35300.1	Xp11.2	2014-09-17	2006-11-22	2006-11-22	ENSG00000072506	ENSG00000072506	1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	4800	protein-coding gene	gene with protein product	"""type 10 17b-HSD"", ""type 10 17beta-hydroxysteroid dehydrogenase"", ""AB-binding alcohol dehydrogenase"", ""short chain dehydrogenase/reductase family 5C, member 1"", ""mitochondrial RNase P subunit 2"""	300256	"""hydroxyacyl-Coenzyme A dehydrogenase, type II, hydroxyacyl-Coenzyme A dehydrogenase, type II"", ""mental retardation, X-linked, syndromic 10"""	HADH2, MRXS10		9338779, 16899120, 19027726, 18984158, 17236142	Standard	NM_004493		Approved	ERAB, MHBD, 17b-HSD10, ABAD, SDR5C1, MRPP2, CAMR	uc004dsl.1	Q99714	OTTHUMG00000021612	ENST00000168216.6:c.357+1G>A	X.37:g.53459194C>T						HSD17B10_uc004dsm.1_Splice_Site_p.D119_splice	p.D119_splice	NM_004493	NP_004484	Q99714	HCD2_HUMAN			3	388	-								Q5H927|Q6IBS9|Q8TCV9|Q96HD5	Splice_Site	SNP	ENST00000168216.6	37	c.357_splice	CCDS14354.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.965283	0.53507	.	.	ENSG00000072506	ENST00000168216;ENST00000375304;ENST00000375298	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5238	0.50567	0.0:0.9115:0.0:0.0885	.	.	.	.	.	-1	.	.	.	-	.	.	HSD17B10	53475919	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	5.299000	0.65716	2.455000	0.83008	0.600000	0.82982	.		0.502	HSD17B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056750.1		NM_004493	Intron	4	17	0	0	0	0.014758	0	4	17		
FAM120C	54954	broad.mit.edu	37	X	54185903	54185903	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:54185903C>G	ENST00000375180.2	-	2	902	c.846G>C	c.(844-846)tgG>tgC	p.W282C	FAM120C_ENST00000328235.4_Missense_Mutation_p.W282C	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	282							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TCTTCCCATTCCAGCTCAGTT	0.488																																						uc004dsz.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(844-846)TGG>TGC		hypothetical protein LOC54954							127.0	101.0	109.0					X																	54185903		2203	4300	6503	SO:0001583	missense	54954							g.chrX:54185903C>G	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.846G>C	X.37:g.54185903C>G	ENSP00000364324:p.Trp282Cys					FAM120C_uc011moh.1_Missense_Mutation_p.W282C	p.W282C	NM_017848	NP_060318	Q9NX05	F120C_HUMAN			2	929	-			282					B2RMT7	Missense_Mutation	SNP	ENST00000375180.2	37	c.846G>C	CCDS14356.1	.	.	.	.	.	.	.	.	.	.	c	13.61	2.287216	0.40494	.	.	ENSG00000184083	ENST00000375180;ENST00000328235	T;T	0.44482	0.92;0.92	5.13	4.26	0.50523	.	0.187429	0.50627	D	0.000115	T	0.47563	0.1452	N	0.22421	0.69	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.79108	0.975;0.992	T	0.39035	-0.9633	10	0.38643	T	0.18	-3.8185	11.7154	0.51650	0.0:0.9095:0.0:0.0905	.	282;282	F8W881;Q9NX05	.;F120C_HUMAN	C	282	ENSP00000364324:W282C;ENSP00000329896:W282C	ENSP00000329896:W282C	W	-	3	0	FAM120C	54202628	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.493000	0.35605	0.936000	0.37367	0.502000	0.49764	TGG		0.488	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2		NM_017848		4	89	0	0	0	0.009096	0	4	89		
DLG3	1741	broad.mit.edu	37	X	69670626	69670626	+	Silent	SNP	C	C	T	rs370555109		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:69670626C>T	ENST00000374360.3	+	6	1211	c.978C>T	c.(976-978)taC>taT	p.Y326Y	RNU4-81P_ENST00000363561.1_RNA|DLG3_ENST00000194900.4_Silent_p.Y344Y|DLG3_ENST00000374355.3_5'Flank|DLG3-AS1_ENST00000431103.1_RNA|DLG3-AS1_ENST00000424211.1_RNA	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	326					axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)	p.Y326Y(1)		endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					CCCCTGACTACGCCAGCAGTA	0.532																																						uc004dyi.1		NaN																	1	Substitution - coding silent(1)		large_intestine(1)	large_intestine(1)|pancreas(1)	2						c.(976-978)TAC>TAT		synapse-associated protein 102 isoform a		C		1,3834		0,1,1631,571	100.0	70.0	80.0		978	-0.9	1.0	X		80	0,6728		0,0,2428,1872	no	coding-synonymous	DLG3	NM_021120.3		0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095		326/818	69670626	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	1741				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	g.chrX:69670626C>T	U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"""neuroendocrine-dlg"", ""protein phosphatase 1, regulatory subunit 82"""	300189	"""discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"""			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.978C>T	X.37:g.69670626C>T						DLG3_uc004dyj.1_5'Flank	p.Y326Y	NM_021120	NP_066943	Q92796	DLG3_HUMAN			6	1306	+	Renal(35;0.156)		326					B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Silent	SNP	ENST00000374360.3	37	c.978C>T	CCDS14403.1																																																																																				0.532	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2		NM_021120		4	55	0	0	0	0.014758	0	4	55		
TEX11	56159	broad.mit.edu	37	X	70080735	70080735	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:70080735G>A	ENST00000395889.2	-	6	496	c.341C>T	c.(340-342)tCa>tTa	p.S114L	TEX11_ENST00000374333.2_Missense_Mutation_p.S99L|TEX11_ENST00000344304.3_Missense_Mutation_p.S114L	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	114					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					ACTTTGTTCTGAGGCAAATGA	0.343																																						uc004dyl.2		NaN																	0				ovary(3)|breast(1)|skin(1)	5						c.(340-342)TCA>TTA		testis expressed sequence 11 isoform 1							116.0	88.0	98.0					X																	70080735		2203	4300	6503	SO:0001583	missense	56159						protein binding	g.chrX:70080735G>A	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.341C>T	X.37:g.70080735G>A	ENSP00000379226:p.Ser114Leu					TEX11_uc004dym.2_Missense_Mutation_p.S99L	p.S114L	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN			6	503	-	Renal(35;0.156)		114					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	c.341C>T	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.619990	0.28801	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000344304	T;T;T	0.33865	1.39;1.4;1.4	4.83	2.9	0.33743	.	0.373533	0.24520	N	0.037820	T	0.26159	0.0638	L	0.46157	1.445	0.09310	N	1	P;B	0.37101	0.582;0.447	B;B	0.35688	0.208;0.103	T	0.10042	-1.0647	9	.	.	.	-5.5169	5.0723	0.14613	0.2822:0.0:0.7178:0.0	.	99;114	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	L	99;114;114	ENSP00000363453:S99L;ENSP00000379226:S114L;ENSP00000340995:S114L	.	S	-	2	0	TEX11	69997460	0.925000	0.31364	0.571000	0.28486	0.140000	0.21249	1.342000	0.33919	1.018000	0.39521	0.506000	0.49869	TCA		0.343	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1				3	24	0	0	0	0.004672	0	3	24		
MED12	9968	broad.mit.edu	37	X	70346320	70346320	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:70346320G>A	ENST00000374080.3	+	19	2703	c.2671G>A	c.(2671-2673)Gac>Aac	p.D891N	MED12_ENST00000374102.1_Missense_Mutation_p.D891N|MED12_ENST00000462984.1_3'UTR|MED12_ENST00000333646.6_Missense_Mutation_p.D891N			Q93074	MED12_HUMAN	mediator complex subunit 12	891					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGGCCTCATCGACTTTGCCAT	0.537			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															uc004dyy.2		NaN		Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(2671-2673)GAC>AAC		mediator complex subunit 12							155.0	145.0	148.0					X																	70346320		2081	4192	6273	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70346320G>A	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.2671G>A	X.37:g.70346320G>A	ENSP00000363193:p.Asp891Asn					MED12_uc011mpq.1_Missense_Mutation_p.D891N|MED12_uc004dyz.2_Missense_Mutation_p.D891N|MED12_uc004dza.2_Missense_Mutation_p.D738N	p.D891N	NM_005120	NP_005111	Q93074	MED12_HUMAN			19	2870	+	Renal(35;0.156)		891					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.2671G>A	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	22.6	4.305497	0.81247	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.88134	0.6355	M	0.63843	1.955	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.972;0.997;0.999	D;P;D;D	0.72625	0.978;0.625;0.912;0.967	D	0.89631	0.3855	10	0.87932	D	0	-16.3209	17.1036	0.86656	0.0:0.0:1.0:0.0	.	891;738;891;891	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	N	891;891;891;891;859	ENSP00000333125:D891N;ENSP00000363215:D891N;ENSP00000363193:D891N;ENSP00000414203:D859N	ENSP00000333125:D891N	D	+	1	0	MED12	70263045	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.986000	0.93492	2.217000	0.71921	0.529000	0.55759	GAC		0.537	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1		NM_005120		11	136	0	0	0	0.003163	0	11	136		
ATRX	546	broad.mit.edu	37	X	76937566	76937566	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:76937566G>C	ENST00000373344.5	-	9	3396	c.3182C>G	c.(3181-3183)tCt>tGt	p.S1061C	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S1023C	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1061					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AGCATAATCAGATAATTCATC	0.333			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3		NaN		Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		1	Unknown(1)		bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(3181-3183)TCT>TGT		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						108.0	120.0	116.0					X																	76937566		2203	4288	6491	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76937566G>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3182C>G	X.37:g.76937566G>C	ENSP00000362441:p.Ser1061Cys					ATRX_uc004ecq.3_Missense_Mutation_p.S1023C|ATRX_uc004eco.3_Missense_Mutation_p.S846C|ATRX_uc004ecr.2_Missense_Mutation_p.S993C|ATRX_uc010nlx.1_Missense_Mutation_p.S1032C|ATRX_uc010nly.1_Missense_Mutation_p.S1006C	p.S1061C	NM_000489	NP_000480	P46100	ATRX_HUMAN			9	3414	-			1061					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.3182C>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	8.913	0.959227	0.18507	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.94092	-3.35;-3.34	5.56	1.69	0.24217	.	0.500458	0.19071	N	0.123494	D	0.91331	0.7266	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.64830	0.979;0.994;0.969;0.975	P;P;P;P	0.60415	0.635;0.874;0.614;0.594	D	0.87247	0.2270	10	0.72032	D	0.01	0.9092	2.9072	0.05725	0.1583:0.1396:0.5544:0.1478	.	1061;993;1023;1061	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	C	1061;1023;988	ENSP00000362441:S1061C;ENSP00000378967:S1023C	ENSP00000362441:S1061C	S	-	2	0	ATRX	76824222	0.934000	0.31675	0.290000	0.24890	0.507000	0.33981	0.819000	0.27308	0.132000	0.18615	0.513000	0.50165	TCT		0.333	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2		NM_000489		21	158	0	0	0	0.008871	0	21	158		
MORC4	79710	broad.mit.edu	37	X	106221416	106221416	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:106221416C>T	ENST00000355610.4	-	8	1224	c.950G>A	c.(949-951)aGa>aAa	p.R317K	MORC4_ENST00000535534.1_Missense_Mutation_p.R65K|MORC4_ENST00000255495.7_Missense_Mutation_p.R317K	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	317						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						AAAGGTGATTCTCACCTGCTT	0.378																																						uc004emu.3		NaN																	0				ovary(1)	1						c.(949-951)AGA>AAA		zinc finger, CW type with coiled-coil domain 2							115.0	111.0	112.0					X																	106221416		2203	4300	6503	SO:0001583	missense	79710						ATP binding|zinc ion binding	g.chrX:106221416C>T	AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.950G>A	X.37:g.106221416C>T	ENSP00000347821:p.Arg317Lys					MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Missense_Mutation_p.R317K|MORC4_uc004emw.3_Missense_Mutation_p.R65K	p.R317K	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN			8	1193	-			317					A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	ENST00000355610.4	37	c.950G>A	CCDS14525.2	.	.	.	.	.	.	.	.	.	.	C	8.633	0.894243	0.17613	.	.	ENSG00000133131	ENST00000355610;ENST00000535534;ENST00000255495	T;T;T	0.27104	2.91;1.69;2.91	4.89	2.96	0.34315	.	0.171467	0.50627	N	0.000118	T	0.08268	0.0206	N	0.02225	-0.63	0.26027	N	0.981798	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.31613	-0.9937	10	0.17832	T	0.49	-5.6343	5.4353	0.16478	0.0:0.4998:0.0:0.5002	.	65;317;317	A1YR24;A1YR23;Q8TE76	.;.;MORC4_HUMAN	K	317;65;317	ENSP00000347821:R317K;ENSP00000440359:R65K;ENSP00000255495:R317K	ENSP00000255495:R317K	R	-	2	0	MORC4	106108072	0.742000	0.28228	1.000000	0.80357	0.865000	0.49528	0.061000	0.14366	0.433000	0.26313	-0.276000	0.10085	AGA		0.378	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3		NM_024657		14	83	0	0	0	0.016723	0	14	83		
IRS4	8471	broad.mit.edu	37	X	107978480	107978480	+	Silent	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:107978480C>G	ENST00000372129.2	-	1	1171	c.1095G>C	c.(1093-1095)ccG>ccC	p.P365P	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	365					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CCGGCTCGAGCGGCACCAAGC	0.637																																						uc004eoc.2		NaN																	0				ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						c.(1093-1095)CCG>CCC		insulin receptor substrate 4							80.0	85.0	83.0					X																	107978480		2203	4299	6502	SO:0001819	synonymous_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107978480C>G	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1095G>C	X.37:g.107978480C>G							p.P365P	NM_003604	NP_003595	O14654	IRS4_HUMAN			1	1128	-			365						Silent	SNP	ENST00000372129.2	37	c.1095G>C	CCDS14544.1																																																																																				0.637	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1		NM_003604		16	156	0	0	0	0.004007	0	16	156		
SAGE1	55511	broad.mit.edu	37	X	134993401	134993401	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:134993401C>A	ENST00000370709.3	+	16	2056	c.2056C>A	c.(2056-2058)Cag>Aag	p.Q686K	SAGE1_ENST00000535938.1_Missense_Mutation_p.Q686K|SAGE1_ENST00000324447.3_Missense_Mutation_p.Q686K|SAGE1_ENST00000537770.1_Missense_Mutation_p.Q310K			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	686						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AAATGGCCAACAGGCACCTGA	0.453																																						uc004ezh.2		NaN																	0				ovary(2)|skin(1)	3						c.(2056-2058)CAG>AAG		sarcoma antigen 1							157.0	125.0	136.0					X																	134993401		2203	4300	6503	SO:0001583	missense	55511							g.chrX:134993401C>A	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.2056C>A	X.37:g.134993401C>A	ENSP00000359743:p.Gln686Lys					SAGE1_uc010nry.1_Missense_Mutation_p.Q655K|SAGE1_uc011mvv.1_Missense_Mutation_p.Q310K	p.Q686K	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN			17	2223	+	Acute lymphoblastic leukemia(192;0.000127)		686					Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	c.2056C>A	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.276601	0.23307	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.30981	1.51;1.51;1.61;1.51	1.59	0.336	0.15958	.	0.988139	0.08193	U	0.983524	T	0.21145	0.0509	N	0.19112	0.55	0.09310	N	1	B;P	0.42337	0.356;0.776	B;P	0.48598	0.185;0.583	T	0.12785	-1.0534	10	0.07813	T	0.8	.	4.0159	0.09644	0.6048:0.3952:0.0:0.0	.	310;686	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	K	686;686;310;686	ENSP00000323191:Q686K;ENSP00000445959:Q686K;ENSP00000438276:Q310K;ENSP00000359743:Q686K	ENSP00000323191:Q686K	Q	+	1	0	SAGE1	134821067	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.316000	0.08071	0.008000	0.14787	0.179000	0.17066	CAG		0.453	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1		NM_018666		6	78	1	0	8.12818e-05	0.001984	8.70877e-05	6	78		
GPR50	9248	broad.mit.edu	37	X	150345317	150345317	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:150345317G>C	ENST00000218316.3	+	1	193	c.124G>C	c.(124-126)Gac>Cac	p.D42H	GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	42					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CATCGTTGTAGACCTAATCGG	0.507																																						uc010ntg.1		NaN																	0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(124-126)GAC>CAC		G protein-coupled receptor 50							149.0	145.0	146.0					X																	150345317		1919	4107	6026	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150345317G>C	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.124G>C	X.37:g.150345317G>C	ENSP00000218316:p.Asp42His					uc004fes.1_RNA|GPR50_uc011myc.1_Missense_Mutation_p.D42H	p.D42H	NM_004224	NP_004215	Q13585	MTR1L_HUMAN			1	259	+	Acute lymphoblastic leukemia(192;6.56e-05)		42			Helical; Name=1; (Potential).		Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.124G>C	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.128222	0.37533	.	.	ENSG00000102195	ENST00000218316	T	0.37058	1.22	4.2	4.2	0.49525	.	0.000000	0.85682	D	0.000000	T	0.34571	0.0902	N	0.08118	0	0.42311	D	0.992215	D	0.57257	0.979	P	0.62649	0.905	T	0.36311	-0.9753	10	0.59425	D	0.04	-19.3723	10.8612	0.46827	0.0:0.0:1.0:0.0	.	42	Q13585	MTR1L_HUMAN	H	42	ENSP00000218316:D42H	ENSP00000218316:D42H	D	+	1	0	GPR50	150095975	1.000000	0.71417	0.997000	0.53966	0.020000	0.10135	5.828000	0.69307	1.930000	0.55929	0.292000	0.19580	GAC		0.507	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1		NM_004224		12	140	0	0	0	0.010729	0	12	140		
TMLHE	55217	broad.mit.edu	37	X	154743794	154743794	+	Nonsense_Mutation	SNP	G	G	T	rs369612445		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:154743794G>T	ENST00000334398.3	-	4	636	c.491C>A	c.(490-492)tCg>tAg	p.S164*	TMLHE_ENST00000369439.4_Nonsense_Mutation_p.S164*|TMLHE-AS1_ENST00000452506.1_RNA	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	164					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|trimethyllysine dioxygenase activity (GO:0050353)			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	GCAATCTACCGATGGAACTTG	0.433																																						uc004fnn.2		NaN																	0				ovary(1)	1						c.(490-492)TCG>TAG		trimethyllysine hydroxylase, epsilon	Succinic acid(DB00139)|Vitamin C(DB00126)						149.0	127.0	134.0					X																	154743794		2203	4300	6503	SO:0001587	stop_gained	55217				carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity	g.chrX:154743794G>T	AF373407, X97513	CCDS14768.1, CCDS55547.1	Xq28	2006-07-14			ENSG00000185973	ENSG00000185973			18308	protein-coding gene	gene with protein product	"""butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2"""	300777				8908511, 11431483	Standard	NM_018196		Approved	TMLH, FLJ10727, BBOX2, XAP130	uc004fnn.3	Q9NVH6	OTTHUMG00000022674	ENST00000334398.3:c.491C>A	X.37:g.154743794G>T	ENSP00000335261:p.Ser164*					TMLHE_uc004fno.2_Nonsense_Mutation_p.S164*|TMLHE_uc004fnp.3_Nonsense_Mutation_p.S164*	p.S164*	NM_018196	NP_060666	Q9NVH6	TMLH_HUMAN			4	657	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		164					A8K6M9|B4E3R3|Q5TZB5|Q6IA90|Q8TBT0	Nonsense_Mutation	SNP	ENST00000334398.3	37	c.491C>A	CCDS14768.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678181	0.88542	.	.	ENSG00000185973	ENST00000334398;ENST00000369439	.	.	.	3.92	3.05	0.35203	.	0.334601	0.32593	N	0.005892	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-1.105	9.0801	0.36547	0.1165:0.0:0.8835:0.0	.	.	.	.	X	164	.	ENSP00000335261:S164X	S	-	2	0	TMLHE	154396988	1.000000	0.71417	0.977000	0.42913	0.707000	0.40811	6.793000	0.75130	0.612000	0.30071	0.513000	0.50165	TCG		0.433	TMLHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058817.1		NM_018196		6	109	1	0	0.00198382	0.001984	0.00208417	6	109		
SLAMF7	57823	broad.mit.edu	37	1	160721190	160721190	+	Frame_Shift_Del	DEL	C	C	-	rs554400150		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:160721190delC	ENST00000368043.3	+	5	862	c.825delC	c.(823-825)tgcfs	p.C275fs	SLAMF7_ENST00000368042.3_Frame_Shift_Del_p.C168fs|SLAMF7_ENST00000458602.2_Frame_Shift_Del_p.C128fs|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000441662.2_Frame_Shift_Del_p.C144fs|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000359331.4_Intron	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	275					cell adhesion (GO:0007155)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of natural killer cell activation (GO:0032814)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTAACATATGCCCCCATTCTG	0.468																																						uc001fwq.2		NaN																	0				skin(2)|ovary(1)	3						c.(823-825)TGCfs		SLAM family member 7							196.0	173.0	181.0					1																	160721190		2203	4300	6503	SO:0001589	frameshift_variant	57823				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity	g.chr1:160721190delC	AB027233	CCDS1209.1, CCDS60321.1, CCDS60322.1, CCDS60323.1, CCDS60324.1, CCDS60325.1, CCDS72956.1, CCDS72957.1	1q23.1-q24.1	2013-01-11			ENSG00000026751	ENSG00000026751		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	21394	protein-coding gene	gene with protein product		606625				11802771, 11220635	Standard	XM_005245386		Approved	CRACC, 19A, CS1, CD319	uc001fwq.3	Q9NQ25	OTTHUMG00000024008	ENST00000368043.3:c.825delC	1.37:g.160721190delC	ENSP00000357022:p.Cys275fs					SLAMF7_uc010pjn.1_Frame_Shift_Del_p.C181fs|SLAMF7_uc001fws.2_Frame_Shift_Del_p.C168fs|SLAMF7_uc001fwr.2_Intron|SLAMF7_uc010pjo.1_Frame_Shift_Del_p.C144fs|SLAMF7_uc010pjp.1_Frame_Shift_Del_p.C128fs|SLAMF7_uc010pjq.1_Intron|SLAMF7_uc010pjr.1_Intron	p.C275fs	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		5	840	+	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		275			Cytoplasmic (Potential).		A8K3U1|B4DPU4|B4DPY3|B4DWA3|Q8N6Y8|Q8ND32|Q9NY08|Q9NY23	Frame_Shift_Del	DEL	ENST00000368043.3	37	c.825delC	CCDS1209.1																																																																																				0.468	SLAMF7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060464.1		NM_021181		11	164	NaN	NaN	NaN	NaN	NaN	11	164	---	---
PCDH15	65217	broad.mit.edu	37	10	55973780	55973781	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:55973780_55973781insA	ENST00000320301.6	-	10	1407_1408	c.1013_1014insT	c.(1012-1014)ttcfs	p.F338fs	PCDH15_ENST00000395438.1_Frame_Shift_Ins_p.F338fs|PCDH15_ENST00000414778.1_Frame_Shift_Ins_p.F343fs|PCDH15_ENST00000361849.3_Frame_Shift_Ins_p.F338fs|PCDH15_ENST00000373957.3_Frame_Shift_Ins_p.F316fs|PCDH15_ENST00000373965.2_Frame_Shift_Ins_p.F338fs|PCDH15_ENST00000395445.1_Frame_Shift_Ins_p.F338fs|PCDH15_ENST00000437009.1_Frame_Shift_Ins_p.F338fs|PCDH15_ENST00000395432.2_Frame_Shift_Ins_p.F301fs|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Frame_Shift_Ins_p.F316fs|PCDH15_ENST00000395446.1_Frame_Shift_Ins_p.F338fs|PCDH15_ENST00000373955.1_Frame_Shift_Ins_p.F338fs|PCDH15_ENST00000395440.1_Frame_Shift_Ins_p.F338fs|PCDH15_ENST00000395442.1_Frame_Shift_Ins_p.F338fs|PCDH15_ENST00000395430.1_Frame_Shift_Ins_p.F338fs	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	338	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			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)				GATGCATATGGAAAAATCGTGG	0.366										HNSCC(58;0.16)																												uc001jju.1		NaN																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(1012-1014)TTCfs		protocadherin 15 isoform CD1-4 precursor																																				SO:0001589	frameshift_variant	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.chr10:55973780_55973781insA	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.1014dupT	10.37:g.55973785_55973785dupA	ENSP00000322604:p.Phe338fs	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Frame_Shift_Ins_p.F343fs|PCDH15_uc010qhr.1_Frame_Shift_Ins_p.F338fs|PCDH15_uc010qhs.1_Frame_Shift_Ins_p.F343fs|PCDH15_uc010qht.1_Frame_Shift_Ins_p.F338fs|PCDH15_uc010qhu.1_Frame_Shift_Ins_p.F338fs|PCDH15_uc001jjv.1_Frame_Shift_Ins_p.F316fs|PCDH15_uc010qhv.1_Frame_Shift_Ins_p.F338fs|PCDH15_uc010qhw.1_Frame_Shift_Ins_p.F301fs|PCDH15_uc010qhx.1_Frame_Shift_Ins_p.F338fs|PCDH15_uc010qhy.1_Frame_Shift_Ins_p.F343fs|PCDH15_uc010qhz.1_Frame_Shift_Ins_p.F338fs|PCDH15_uc010qia.1_Frame_Shift_Ins_p.F316fs|PCDH15_uc010qib.1_Frame_Shift_Ins_p.F316fs|PCDH15_uc001jjw.2_Frame_Shift_Ins_p.F338fs	p.F338fs	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			10	1408_1409	-		Melanoma(3;0.117)|Lung SC(717;0.238)	338			Cadherin 3.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Frame_Shift_Ins	INS	ENST00000320301.6	37	c.1013_1014insT	CCDS7248.1																																																																																				0.366	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2		NM_033056		8	57	NaN	NaN	NaN	NaN	NaN	8	57	---	---
CHEK1	1111	broad.mit.edu	37	11	125505377	125505378	+	Frame_Shift_Ins	INS	-	-	A	rs35817404		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:125505377_125505378insA	ENST00000534070.1	+	7	922_923	c.667_668insA	c.(667-669)gaafs	p.E223fs	CHEK1_ENST00000427383.2_Frame_Shift_Ins_p.E239fs|CHEK1_ENST00000428830.2_Frame_Shift_Ins_p.E223fs|CHEK1_ENST00000278916.3_Frame_Shift_Ins_p.E223fs|CHEK1_ENST00000438015.1_Frame_Shift_Ins_p.E223fs|CHEK1_ENST00000544373.1_Frame_Shift_Ins_p.E223fs|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000524737.1_Frame_Shift_Ins_p.E223fs	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	223	Interaction with CLSPN. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		E -> V (in dbSNP:rs35817404). {ECO:0000269|PubMed:17344846}.		cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	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;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TGACTGGAAAGAAAAAAAAACA	0.361								Other conserved DNA damage response genes																														uc009zbo.2		NaN																	0				central_nervous_system(3)|lung(2)|skin(1)	6						c.(667-669)GAAfs	Other_conserved_DNA_damage_response_genes	checkpoint kinase 1																																				SO:0001589	frameshift_variant	1111				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr11:125505377_125505378insA	AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"""CHK1 (checkpoint, S.pombe) homolog"", ""CHK1 checkpoint homolog (S. pombe)"""			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.676dupA	11.37:g.125505386_125505386dupA	ENSP00000435371:p.Glu223fs					CHEK1_uc010sbh.1_Frame_Shift_Ins_p.E239fs|CHEK1_uc010sbi.1_Frame_Shift_Ins_p.E223fs|CHEK1_uc001qcf.3_Frame_Shift_Ins_p.E223fs|CHEK1_uc009zbp.2_Frame_Shift_Ins_p.E223fs|CHEK1_uc001qcg.3_Frame_Shift_Ins_p.E223fs|CHEK1_uc009zbq.2_Frame_Shift_Ins_p.E223fs|CHEK1_uc001qci.1_RNA	p.E223fs	NM_001114122	NP_001107594	O14757	CHK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)	7	1559_1560	+	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)	223			Protein kinase.		A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Frame_Shift_Ins	INS	ENST00000534070.1	37	c.667_668insA	CCDS8459.1																																																																																				0.361	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386714.1		NM_001274		8	126	NaN	NaN	NaN	NaN	NaN	8	126	---	---
RBFOX1	54715	broad.mit.edu	37	16	7645615	7645616	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr16:7645615_7645616insCA	ENST00000550418.1	+	8	1521_1522	c.533_534insCA	c.(532-537)ggcaccfs	p.GT178fs	RBFOX1_ENST00000436368.2_Frame_Shift_Ins_p.GT198fs|RBFOX1_ENST00000553186.1_Frame_Shift_Ins_p.GT178fs|RBFOX1_ENST00000340209.4_Frame_Shift_Ins_p.GT183fs|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000311745.5_Frame_Shift_Ins_p.GT198fs|RBFOX1_ENST00000355637.4_Frame_Shift_Ins_p.GT198fs|RBFOX1_ENST00000547338.1_Frame_Shift_Ins_p.GT178fs|RBFOX1_ENST00000547372.1_Frame_Shift_Ins_p.GT221fs|RBFOX1_ENST00000552089.1_Frame_Shift_Ins_p.GT195fs|RBFOX1_ENST00000422070.4_Frame_Shift_Ins_p.GT221fs	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	178	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AAATTACACGGCACCGTGGTAG	0.45																																					Ovarian(157;934 2567 15163 39509)	uc002cys.2		NaN																	0					0						c.(532-534)GGCfs		ataxin 2-binding protein 1 isoform 4																																				SO:0001589	frameshift_variant	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7645615_7645616insCA	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.534_535dupCA	16.37:g.7645616_7645617dupCA	ENSP00000450031:p.Gly178fs					A2BP1_uc010buf.1_Frame_Shift_Ins_p.G178fs|A2BP1_uc002cyr.1_Frame_Shift_Ins_p.G177fs|A2BP1_uc002cyt.2_Frame_Shift_Ins_p.G178fs|A2BP1_uc010uxz.1_Frame_Shift_Ins_p.G221fs|A2BP1_uc010uya.1_Intron|A2BP1_uc002cyv.1_Frame_Shift_Ins_p.G178fs|A2BP1_uc010uyb.1_Frame_Shift_Ins_p.G178fs|A2BP1_uc002cyw.2_Frame_Shift_Ins_p.G198fs|A2BP1_uc002cyy.2_Frame_Shift_Ins_p.G198fs|A2BP1_uc002cyx.2_Frame_Shift_Ins_p.G198fs|A2BP1_uc010uyc.1_Frame_Shift_Ins_p.G198fs	p.G178fs	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)	8	1521_1522	+		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)	178			RRM.		Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Frame_Shift_Ins	INS	ENST00000550418.1	37	c.533_534insCA	CCDS55983.1																																																																																				0.450	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2		NM_145891		8	133	NaN	NaN	NaN	NaN	NaN	8	133	---	---
MC4R	4160	broad.mit.edu	37	18	58038747	58038748	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr18:58038747_58038748delCA	ENST00000299766.3	-	1	1253_1254	c.835_836delTG	c.(835-837)tgcfs	p.C279fs		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	279					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				AGACATGAAGCACACACAATAT	0.421																																						uc002lie.1		NaN																	0				lung(1)	1						c.(835-837)TGCfs		melanocortin 4 receptor																																				SO:0001589	frameshift_variant	4160				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding	g.chr18:58038747_58038748delCA	AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"""GPCR / Class A : Melanocortin receptors"""	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.835_836delTG	18.37:g.58038753_58038754delCA	ENSP00000299766:p.Cys279fs						p.C279fs	NM_005912	NP_005903	P32245	MC4R_HUMAN			1	1254_1255	-		Colorectal(73;0.0946)	279			Extracellular (Potential).		B2RAC3|Q16317|Q3MIJ6	Frame_Shift_Del	DEL	ENST00000299766.3	37	c.835_836delTG	CCDS11976.1																																																																																				0.421	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256139.1		NM_005912		11	59	NaN	NaN	NaN	NaN	NaN	11	59	---	---
NKAIN4	128414	broad.mit.edu	37	20	61873940	61873941	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr20:61873940_61873941delAG	ENST00000370316.3	-	6	656_657	c.567_568delCT	c.(565-570)ctctacfs	p.Y190fs	NKAIN4_ENST00000466885.1_5'UTR|NKAIN4_ENST00000370313.1_Intron|NKAIN4_ENST00000370307.2_Frame_Shift_Del_p.Y128fs	NM_152864.3	NP_690603.3	Q8IVV8	NKAI4_HUMAN	Na+/K+ transporting ATPase interacting 4	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|lung(1)|ovary(1)	4	all_cancers(38;2.72e-09)					TTGACATGGTAGAGAGGAAATG	0.446																																						uc002yek.2		NaN																	0					0						c.(565-570)CTCTACfs		Na+/K+ transporting ATPase interacting 4																																				SO:0001589	frameshift_variant	128414					integral to membrane|plasma membrane		g.chr20:61873940_61873941delAG	BC041812	CCDS13514.1	20q13.33	2007-10-04	2007-10-04	2007-10-04	ENSG00000101198	ENSG00000101198		"""Na+/K+ transporting ATPase interacting"""	16191	protein-coding gene	gene with protein product		612873	"""chromosome 20 open reading frame 58"""	C20orf58		17606467	Standard	NM_152864		Approved	bA261N11.2, FAM77A	uc002yek.3	Q8IVV8	OTTHUMG00000032959	ENST00000370316.3:c.567_568delCT	20.37:g.61873944_61873945delAG	ENSP00000359340:p.Tyr190fs						p.L189fs	NM_152864	NP_690603	Q8IVV8	NKAI4_HUMAN			6	657_658	-	all_cancers(38;2.72e-09)		189_190					Q4VXQ6|Q9BQU8|Q9BQU9	Frame_Shift_Del	DEL	ENST00000370316.3	37	c.567_568delCT	CCDS13514.1																																																																																				0.446	NKAIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080117.3		NM_152864		36	247	NaN	NaN	NaN	NaN	NaN	36	247	---	---
